Variant report

Variant	esv3387688
Chromosome Location	chr8:103665726-103668424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:103666299-103666499	K562	blood:	n/a	n/a
2	ARID3A	chr8:103665722-103666083	K562	blood:	n/a	n/a
3	ARID3A	chr8:103665662-103666391	HepG2	liver:	n/a	n/a
4	ARID3A	chr8:103667838-103668151	K562	blood:	n/a	n/a
5	ARID3A	chr8:103667768-103668497	HepG2	liver:	n/a	n/a
6	ATF1	chr8:103665806-103666426	K562	blood:	n/a	n/a
7	ATF2	chr8:103665714-103666493	GM12878	blood:	n/a	n/a
8	ATF2	chr8:103667639-103668170	GM12878	blood:	n/a	n/a
9	ATF2	chr8:103668191-103668858	GM12878	blood:	n/a	n/a
10	ATF3	chr8:103667923-103668235	HepG2	liver:	n/a	n/a
11	ATF3	chr8:103665726-103666490	K562	blood:	n/a	chr8:103666308-103666317 chr8:103666240-103666249
12	ATF3	chr8:103666129-103666472	HepG2	liver:	n/a	chr8:103666308-103666317 chr8:103666240-103666249
13	ATF3	chr8:103666124-103666479	HepG2	liver:	n/a	chr8:103666308-103666317 chr8:103666240-103666249
14	ATF3	chr8:103667845-103668184	HepG2	liver:	n/a	n/a
15	ATF3	chr8:103666107-103666401	K562	blood:	n/a	chr8:103666308-103666317 chr8:103666240-103666249
16	ATF3	chr8:103667700-103668180	A549	lung:	n/a	n/a
17	BACH1	chr8:103665804-103668823	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr8:103666022-103666337	GM12878	blood:	n/a	n/a
19	BCL11A	chr8:103666023-103666412	GM12878	blood:	n/a	chr8:103666265-103666278 chr8:103666240-103666253 chr8:103666309-103666318
20	BCL3	chr8:103666062-103666472	GM12878	blood:	n/a	chr8:103666265-103666278 chr8:103666240-103666253 chr8:103666309-103666318
21	BCL3	chr8:103665743-103666676	A549	lung:	n/a	chr8:103666265-103666278 chr8:103666240-103666253 chr8:103666309-103666318
22	BCL3	chr8:103667555-103668061	A549	lung:	n/a	chr8:103667922-103667935 chr8:103667925-103667934 chr8:103667926-103667939 chr8:103667919-103667932 chr8:103667928-103667937 chr8:103667925-103667938
23	BCL3	chr8:103665590-103666222	A549	lung:	n/a	n/a
24	BCL3	chr8:103667685-103668200	GM12878	blood:	n/a	chr8:103667922-103667935 chr8:103667925-103667934 chr8:103667926-103667939 chr8:103667919-103667932 chr8:103667928-103667937 chr8:103667925-103667938
25	BCL3	chr8:103667722-103668031	K562	blood:	n/a	chr8:103667922-103667935 chr8:103667925-103667934 chr8:103667926-103667939 chr8:103667919-103667932 chr8:103667928-103667937 chr8:103667925-103667938
26	BCL3	chr8:103667610-103668583	A549	lung:	n/a	chr8:103668357-103668366 chr8:103667922-103667935 chr8:103667925-103667934 chr8:103667926-103667939 chr8:103667919-103667932 chr8:103667928-103667937 chr8:103668246-103668255 chr8:103668204-103668217 chr8:103668203-103668212 chr8:103668371-103668380 chr8:103667925-103667938
27	BCLAF1	chr8:103667678-103668173	GM12878	blood:	n/a	chr8:103667922-103667935 chr8:103667925-103667934 chr8:103667926-103667939 chr8:103667919-103667932 chr8:103667928-103667937 chr8:103667925-103667938
28	BCLAF1	chr8:103666112-103666478	GM12878	blood:	n/a	chr8:103666265-103666278 chr8:103666240-103666253 chr8:103666309-103666318
29	BCLAF1	chr8:103668210-103668744	GM12878	blood:	n/a	chr8:103668691-103668704 chr8:103668357-103668366 chr8:103668655-103668668 chr8:103668246-103668255 chr8:103668685-103668698 chr8:103668371-103668380
30	BHLHE40	chr8:103667917-103668534	A549	lung:	n/a	chr8:103667919-103667935 chr8:103668428-103668444 chr8:103667920-103667936
31	BHLHE40	chr8:103667535-103668616	HepG2	liver:	n/a	chr8:103667919-103667935 chr8:103668428-103668444 chr8:103667920-103667936
32	BHLHE40	chr8:103665792-103666940	HepG2	liver:	n/a	chr8:103666627-103666643 chr8:103666686-103666702 chr8:103666635-103666651
33	BHLHE40	chr8:103667586-103668728	K562	blood:	n/a	chr8:103667919-103667935 chr8:103668694-103668710 chr8:103668682-103668698 chr8:103668428-103668444 chr8:103667920-103667936
34	BHLHE40	chr8:103665714-103667019	GM12878	blood:	n/a	chr8:103666627-103666643 chr8:103666686-103666702 chr8:103666635-103666651
35	BHLHE40	chr8:103665772-103666549	A549	lung:	n/a	n/a
36	BHLHE40	chr8:103666114-103666537	HepG2	liver:	n/a	n/a
37	BHLHE40	chr8:103665741-103667096	K562	blood:	n/a	chr8:103667017-103667033 chr8:103666627-103666643 chr8:103666686-103666702 chr8:103666635-103666651
38	BHLHE40	chr8:103666135-103666476	HepG2	liver:	n/a	n/a
39	BHLHE40	chr8:103667841-103668207	HepG2	liver:	n/a	chr8:103667919-103667935 chr8:103667920-103667936
40	BHLHE40	chr8:103667717-103669304	GM12878	blood:	n/a	chr8:103667919-103667935 chr8:103668694-103668710 chr8:103668828-103668844 chr8:103668682-103668698 chr8:103668428-103668444 chr8:103667920-103667936
41	BRCA1	chr8:103667763-103668022	GM12878	blood:	n/a	n/a
42	BRCA1	chr8:103667118-103667360	HepG2	liver:	n/a	n/a
43	BRCA1	chr8:103666269-103666864	HepG2	liver:	n/a	n/a
44	BRCA1	chr8:103665898-103666067	HepG2	liver:	n/a	n/a
45	BRCA1	chr8:103667682-103668121	HepG2	liver:	n/a	n/a
46	BRCA1	chr8:103665733-103666374	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr8:103667721-103668128	Hela-S3	cervix:	n/a	n/a
48	BRCA1	chr8:103668398-103668758	GM12878	blood:	n/a	n/a
49	CBX3	chr8:103667613-103668663	K562	blood:	n/a	n/a
50	CBX3	chr8:103665683-103666557	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:103668104-103668154	HEEpiC	esophagus:	n/a
2	chr8:103668104-103668154	HEEpiC	esophagus:	n/a
3	chr8:103666178-103666228	HRCEpiC	kidney:	n/a
4	chr8:103668147-103668197	IMR90	lung:	fetal
5	chr8:103668147-103668197	HCM	heart:	n/a
6	chr8:103667415-103667465	HCF	heart:	n/a
7	chr8:103667092-103667142	HNPCEpiC	eye:	n/a
8	chr8:103667900-103667950	PFSK-1	brain:	n/a
9	chr8:103666178-103666228	HPAEpiC	pulmonary alveolar:	n/a
10	chr8:103666233-103666283	GM19239	blood:	n/a
11	chr8:103668053-103668103	AG10803	skin:	n/a
12	chr8:103666201-103666251	HPAEpiC	pulmonary alveolar:	n/a
13	chr8:103665964-103666014	HEK293	kidney:	embryo
14	chr8:103667900-103667950	Jurkat	blood:	n/a
15	chr8:103667917-103667967	GM12891	blood:	n/a
16	chr8:103666796-103666846	NT2-D1	testis:	n/a
17	chr8:103667415-103667465	Caco-2	colon:	n/a
18	chr8:103665964-103666014	NB4	blood:	n/a
19	chr8:103665964-103666014	HCPEpiC	choroid plexus:	n/a
20	chr8:103667415-103667465	ProgFib	skin:	n/a
21	chr8:103667900-103667950	AG10803	skin:	n/a
22	chr8:103667092-103667142	NHDF-neo	bronchial:	n/a
23	chr8:103666178-103666228	RPTEC	kidney:	n/a
24	chr8:103667253-103667303	HCM	heart:	n/a
25	chr8:103666796-103666846	HRPEpiC	eye:	n/a
26	chr8:103668147-103668197	PFSK-1	brain:	n/a
27	chr8:103667760-103667810	HEEpiC	esophagus:	n/a
28	chr8:103667760-103667810	LNCaP	prostate:	n/a
29	chr8:103667092-103667142	HCPEpiC	choroid plexus:	n/a
30	chr8:103666233-103666283	NHBE	bronchial:	n/a
31	chr8:103667092-103667142	HUVEC	blood vessel:	n/a
32	chr8:103668104-103668154	MCF10A-Er-Src	breast:	n/a
33	chr8:103666178-103666228	SKMC	muscle:	n/a
34	chr8:103667760-103667810	HUVEC	blood vessel:	n/a
35	chr8:103667900-103667950	SK-N-MC	brain:	n/a
36	chr8:103665964-103666014	AoSMC	blood vessel:	n/a
37	chr8:103666168-103666218	HRPEpiC	eye:	n/a
38	chr8:103667253-103667303	AoSMC	blood vessel:	n/a
39	chr8:103667760-103667810	CMK	blood:	n/a
40	chr8:103667415-103667465	GM19239	blood:	n/a
41	chr8:103667253-103667303	Jurkat	blood:	n/a
42	chr8:103667760-103667810	HCM	heart:	n/a
43	chr8:103666201-103666251	CMK	blood:	n/a
44	chr8:103667760-103667810	NB4	blood:	n/a
45	chr8:103666178-103666228	A549	lung:	n/a
46	chr8:103667917-103667967	BJ	skin:	n/a
47	chr8:103667917-103667967	IMR90	lung:	fetal
48	chr8:103667415-103667465	HCT-116	colon:	n/a
49	chr8:103666233-103666283	PFSK-1	brain:	n/a
50	chr8:103666168-103666218	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:42976234..42976734-chr8:103667761..103668262,2	Hela-S3	cervix:
2	chr8:103570250..103572915-chr8:103665541..103668437,2	MCF-7	breast:
3	chr8:103665570..103666349-chr8:103822679..103823550,2	MCF-7	breast:
4	chr8:103424815..103426910-chr8:103666602..103668807,2	MCF-7	breast:
5	chr17:57922210..57925041-chr8:103666708..103669073,2	MCF-7	breast:
6	chr8:103667482..103670285-chr8:103698237..103701283,5	MCF-7	breast:
7	chr11:60672587..60674671-chr8:103667348..103669319,2	MCF-7	breast:
8	chr8:103665446..103666548-chr8:103822796..103823768,4	MCF-7	breast:
9	chr8:103666355..103668286-chr8:103744275..103747247,3	K562	blood:
10	chr8:103668385..103670802-chr8:103734647..103737242,2	K562	blood:
11	chr8:103667409..103668879-chr8:103818175..103819938,6	MCF-7	breast:
12	chr8:103668322..103669992-chr8:103842318..103844733,2	K562	blood:
13	chr8:103666551..103669632-chr8:103873253..103876487,4	K562	blood:
14	chr8:103647192..103649158-chr8:103663461..103665768,2	K562	blood:
15	chr8:103663808..103666386-chr8:103714227..103715917,2	K562	blood:
16	chr8:103667252..103668985-chr8:145157486..145159881,2	MCF-7	breast:
17	chr8:102217029..102218923-chr8:103667742..103670301,2	MCF-7	breast:
18	chr6:26215473..26218378-chr8:103666198..103668102,2	MCF-7	breast:
19	chr8:103666370..103667135-chr8:103818610..103819735,3	MCF-7	breast:
20	chr8:103422740..103426162-chr8:103661845..103666384,4	MCF-7	breast:
21	chr8:103664543..103668719-chr8:103874742..103878936,8	MCF-7	breast:
22	chr8:103251288..103253851-chr8:103665938..103668117,3	MCF-7	breast:
23	chr8:103668324..103669911-chr8:103703170..103705007,2	MCF-7	breast:
24	chr8:103540947..103542816-chr8:103666262..103668771,2	K562	blood:
25	chr5:72793784..72794452-chr8:103667515..103668043,2	Hela-S3	cervix:
26	chr22:43011161..43011707-chr8:103667264..103668246,2	Hela-S3	cervix:
27	chr8:102504729..102507317-chr8:103666096..103668970,4	MCF-7	breast:
28	chr8:103667418..103667971-chr8:103798353..103799273,2	MCF-7	breast:
29	chr1:76251320..76252039-chr8:103667296..103668087,2	Hela-S3	cervix:
30	chr6:27806319..27806852-chr8:103667961..103668475,2	HCT-116	colon:
31	chr3:49058820..49059490-chr8:103667349..103667977,2	NB4	blood:
32	chr8:103668401..103671307-chr8:103686739..103688259,2	K562	blood:
33	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
34	chr5:64921692..64922217-chr8:103667690..103668612,2	Hela-S3	cervix:
35	chr1:149222331..149224721-chr8:103666579..103669168,2	MCF-7	breast:
36	chr11:64140352..64141276-chr8:103667092..103668087,2	Hela-S3	cervix:
37	chr8:103664643..103666146-chr8:103754646..103756274,2	K562	blood:
38	chr7:100303689..100304213-chr8:103667675..103668260,2	Hela-S3	cervix:
39	chr1:235490500..235491488-chr8:103667802..103668401,2	HCT-116	colon:
40	chr11:62620136..62622532-chr8:103666422..103668667,2	K562	blood:
41	chr15:31616920..31619586-chr8:103667733..103670691,2	MCF-7	breast:
42	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
43	chr8:103665043..103667902-chr8:104032502..104034925,2	K562	blood:
44	chr6:13574305..13575294-chr8:103665947..103666716,2	Hela-S3	cervix:
45	chr8:103665615..103668454-chr9:19407713..19410281,2	MCF-7	breast:
46	chr21:44816498..44817222-chr8:103667168..103667816,2	Hela-S3	cervix:
47	chr8:103664622..103666232-chr8:103692078..103693686,2	K562	blood:
48	chr8:103667089..103668046-chr8:103819732..103820386,3	MCF-7	breast:
49	chr8:103251275..103253446-chr8:103664809..103667608,3	K562	blood:
50	chr20:60639221..60642112-chr8:103666965..103668940,2	MCF-7	breast:

Variant related genes	Relation type
KLF10	TF binding region
KLF10	CpG island
ENSG00000113595	chromatin interactions
ENSG00000107643	chromatin interactions
ENSG00000100439	chromatin interactions
ENSG00000254236	chromatin interactions
ENSG00000253633	chromatin interactions
ENSG00000167131	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000253320	chromatin interactions
ENSG00000130699	chromatin interactions
ENSG00000187990	chromatin interactions
ENSG00000255717	chromatin interactions
ENSG00000177076	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000104517	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000110107	chromatin interactions
ENSG00000169926	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000054267	chromatin interactions
ENSG00000120963	chromatin interactions
ENSG00000155097	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000172660	chromatin interactions
ENSG00000179632	chromatin interactions
ENSG00000128016	chromatin interactions
ENSG00000264364	chromatin interactions
ENSG00000250684	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000272525	chromatin interactions
ENSG00000100299	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000068097	chromatin interactions
ENSG00000172336	chromatin interactions
ENSG00000265306	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000137955	chromatin interactions
ENSG00000257052	chromatin interactions
ENSG00000233822	chromatin interactions
ENSG00000155087	chromatin interactions
ENSG00000272146	chromatin interactions
ENSG00000108883	chromatin interactions
ENSG00000130522	chromatin interactions
ENSG00000145741	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000253669	chromatin interactions
ENSG00000266799	chromatin interactions
ENSG00000152904	chromatin interactions
ENSG00000083307	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000270022	chromatin interactions
ENSG00000168274	chromatin interactions
ENSG00000253251	chromatin interactions
ENSG00000179526	chromatin interactions
ENSG00000233016	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000124523	chromatin interactions

Extended variants
information (count: 113 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370036000	chr8:103665738-103665739	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs73698981	chr8:103665753-103665754	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377187766	chr8:103665760-103665761	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs184991368	chr8:103665761-103665762	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs575688388	chr8:103665763-103665764	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs560046515	chr8:103665788-103665789	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs533362573	chr8:103665808-103665809	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs114833508	chr8:103665873-103665874	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs563818982	chr8:103665887-103665888	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs190680917	chr8:103665896-103665897	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs146850720	chr8:103665908-103665909	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs567955811	chr8:103665962-103665963	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs11779292	chr8:103665971-103665972	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs547295088	chr8:103665989-103665990	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs565611231	chr8:103665990-103665991	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs567193850	chr8:103666038-103666039	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs535859812	chr8:103666045-103666046	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs193039494	chr8:103666058-103666059	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs536745442	chr8:103666059-103666060	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs557504932	chr8:103666074-103666075	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs569241121	chr8:103666075-103666076	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs575973212	chr8:103666082-103666083	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs566929945	chr8:103666087-103666088	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs536796047	chr8:103666088-103666089	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs555490119	chr8:103666127-103666128	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs2471847	chr8:103666172-103666173	Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs117431243	chr8:103666218-103666219	Weak transcription Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs560109426	chr8:103666233-103666234	Weak transcription Active TSS	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs578161857	chr8:103666332-103666333	Weak transcription Active TSS	Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs59144814	chr8:103666339-103666340	Weak transcription Active TSS	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
31	rs563560085	chr8:103666433-103666434	Weak transcription Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	rs530930422	chr8:103666500-103666501	Weak transcription Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
33	rs184580482	chr8:103666555-103666556	Weak transcription Active TSS	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
34	rs549075209	chr8:103666682-103666683	Weak transcription Active TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
35	rs2974996	chr8:103666708-103666709	Weak transcription Active TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
36	rs188083234	chr8:103666847-103666848	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
37	rs376661674	chr8:103666865-103666866	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
38	rs529076166	chr8:103666992-103666993	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
39	rs369586345	chr8:103666999-103667000	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
40	rs2570968	chr8:103667018-103667019	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
41	rs547157072	chr8:103667091-103667092	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
42	rs538291683	chr8:103667104-103667105	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
43	rs539380616	chr8:103667114-103667115	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
44	rs551652709	chr8:103667132-103667133	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
45	rs372249616	chr8:103667135-103667136	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
46	rs569588986	chr8:103667186-103667187	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
47	rs545078279	chr8:103667194-103667195	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs181319293	chr8:103667229-103667230	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
49	rs573747802	chr8:103667235-103667236	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
50	rs58866287	chr8:103667239-103667240	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103662800-103665800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr8:103663400-103665800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:103663400-103666000	Transcr. at gene 5' and 3'	A549	lung
4	chr8:103663400-103666000	Transcr. at gene 5' and 3'	HSMM	muscle
5	chr8:103664000-103665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:103664000-103665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr8:103664000-103667200	Active TSS	Fetal Brain Female	brain
8	chr8:103664000-103669600	Active TSS	Psoas Muscle	Psoas
9	chr8:103664200-103665800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:103664200-103665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:103664200-103665800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:103664200-103665800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:103664200-103665800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr8:103664200-103665800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:103664200-103665800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:103664200-103665800	Weak transcription	Brain Substantia Nigra	brain
17	chr8:103664200-103665800	Weak transcription	Esophagus	oesophagus
18	chr8:103664200-103665800	Weak transcription	Gastric	stomach
19	chr8:103664200-103665800	Weak transcription	Left Ventricle	heart
20	chr8:103664200-103665800	Weak transcription	Ovary	ovary
21	chr8:103664200-103665800	Weak transcription	Pancreas	Pancrea
22	chr8:103664200-103665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr8:103664200-103665800	Weak transcription	Small Intestine	intestine
24	chr8:103664200-103666000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr8:103664200-103666600	Weak transcription	Lung	lung
26	chr8:103664200-103666600	Weak transcription	Spleen	Spleen
27	chr8:103664200-103669200	Active TSS	HSMMtube	muscle
28	chr8:103664200-103670000	Active TSS	Right Atrium	heart
29	chr8:103664400-103665800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr8:103664400-103665800	Transcr. at gene 5' and 3'	NH-A	brain
31	chr8:103664400-103666000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr8:103664400-103666000	Flanking Active TSS	Adipose Nuclei	Adipose
33	chr8:103664400-103666000	Flanking Active TSS	HUVEC	blood vessel
34	chr8:103664400-103668800	Active TSS	Right Ventricle	heart
35	chr8:103664600-103666000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:103664600-103667000	Active TSS	Brain Germinal Matrix	brain
37	chr8:103664600-103668600	Active TSS	Stomach Smooth Muscle	stomach
38	chr8:103664800-103665800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:103664800-103665800	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr8:103664800-103665800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr8:103664800-103665800	Flanking Active TSS	Hela-S3	cervix
42	chr8:103664800-103669800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr8:103665000-103665800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr8:103665000-103665800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr8:103665000-103665800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr8:103665000-103666000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr8:103665000-103666000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr8:103665000-103666800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:103665000-103667200	Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr8:103665000-103667600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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