Variant report

Variant	esv3441759
Chromosome Location	chr8:103423401-103425949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:775)
CpG islands
(count:488)
Chromatin interactive
region (count:42)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:775 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:103422805-103423666	K562	blood:	n/a	n/a
2	ARID3A	chr8:103424910-103425297	HepG2	liver:	n/a	n/a
3	ATF1	chr8:103424995-103425364	K562	blood:	n/a	n/a
4	ATF2	chr8:103424245-103424556	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr8:103424984-103425487	GM12878	blood:	n/a	n/a
6	ATF2	chr8:103423373-103423801	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr8:103423894-103424296	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr8:103425038-103425526	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr8:103423818-103424580	GM12878	blood:	n/a	n/a
10	ATF2	chr8:103424739-103425619	GM12878	blood:	n/a	n/a
11	BACH1	chr8:103424911-103424915	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr8:103423975-103424181	GM12878	blood:	n/a	n/a
13	BCL3	chr8:103424673-103425536	A549	lung:	n/a	chr8:103424960-103424973 chr8:103424704-103424717 chr8:103424965-103424974 chr8:103424674-103424687 chr8:103424764-103424777 chr8:103424728-103424741
14	BCL3	chr8:103424691-103425367	GM12878	blood:	n/a	chr8:103424960-103424973 chr8:103424704-103424717 chr8:103424965-103424974 chr8:103424764-103424777 chr8:103424728-103424741
15	BCLAF1	chr8:103423935-103424412	GM12878	blood:	n/a	chr8:103424199-103424212
16	BCLAF1	chr8:103424750-103425513	GM12878	blood:	n/a	chr8:103424960-103424973 chr8:103424965-103424974 chr8:103424764-103424777
17	BCLAF1	chr8:103422790-103423686	GM12878	blood:	n/a	chr8:103423303-103423312
18	BCLAF1	chr8:103423823-103424457	GM12878	blood:	n/a	chr8:103424199-103424212
19	BHLHE40	chr8:103424197-103424429	HepG2	liver:	n/a	chr8:103424313-103424329 chr8:103424284-103424300
20	BHLHE40	chr8:103424860-103425418	GM12878	blood:	n/a	n/a
21	BHLHE40	chr8:103424142-103424405	K562	blood:	n/a	chr8:103424313-103424329 chr8:103424284-103424300
22	BHLHE40	chr8:103424848-103425535	K562	blood:	n/a	n/a
23	BHLHE40	chr8:103424954-103425274	HepG2	liver:	n/a	n/a
24	BHLHE40	chr8:103424882-103425419	HepG2	liver:	n/a	n/a
25	BHLHE40	chr8:103424030-103424432	GM12878	blood:	n/a	chr8:103424313-103424329 chr8:103424284-103424300
26	BRCA1	chr8:103424885-103425414	GM12878	blood:	n/a	n/a
27	BRCA1	chr8:103424904-103425533	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr8:103425170-103425318	HepG2	liver:	n/a	n/a
29	CBX3	chr8:103424728-103425408	K562	blood:	n/a	n/a
30	CCNT2	chr8:103424127-103425304	K562	blood:	n/a	chr8:103424337-103424346 chr8:103424362-103424371 chr8:103424279-103424288 chr8:103424970-103424979 chr8:103424519-103424528
31	CEBPB	chr8:103424365-103424427	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr8:103425102-103425194	HepG2	liver:	n/a	n/a
33	CEBPB	chr8:103424755-103425098	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr8:103425015-103425616	GM12878	blood:	n/a	n/a
35	CEBPB	chr8:103424929-103425181	IMR90	lung:	n/a	n/a
36	CEBPB	chr8:103425008-103425496	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr8:103425048-103425408	K562	blood:	n/a	n/a
38	CEBPD	chr8:103424755-103425423	K562	blood:	n/a	n/a
39	CEBPD	chr8:103424845-103425076	HepG2	liver:	n/a	n/a
40	CEBPD	chr8:103424741-103425352	HepG2	liver:	n/a	n/a
41	CEBPD	chr8:103423861-103424420	HepG2	liver:	n/a	n/a
42	CHD1	chr8:103423929-103424301	GM12878	blood:	n/a	n/a
43	CHD1	chr8:103424664-103425699	GM12878	blood:	n/a	chr8:103424770-103424780
44	CHD1	chr8:103424813-103424920	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD1	chr8:103422501-103423642	GM12878	blood:	n/a	n/a
46	CHD1	chr8:103421809-103426023	IMR90	lung:	n/a	chr8:103424770-103424780 chr8:103424642-103424652 chr8:103424362-103424372
47	CHD1	chr8:103423252-103424096	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr8:103424801-103425385	HepG2	liver:	n/a	n/a
49	CHD2	chr8:103424778-103425523	K562	blood:	n/a	n/a
50	CHD2	chr8:103423231-103424492	H1-hESC	embryonic stem cell:	n/a	chr8:103424362-103424372

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:103425193-103425243	AG10803	skin:	n/a
2	chr8:103425193-103425243	SKMC	muscle:	n/a
3	chr8:103424275-103424325	SAEC	small airway:	n/a
4	chr8:103424494-103424544	SAEC	small airway:	n/a
5	chr8:103425193-103425243	HCF	heart:	n/a
6	chr8:103424826-103424876	AG04449	skin:	fetal
7	chr8:103424275-103424325	CMK	blood:	n/a
8	chr8:103424372-103424422	HCT-116	colon:	n/a
9	chr8:103424826-103424876	HCT-116	colon:	n/a
10	chr8:103424477-103424527	A549	lung:	n/a
11	chr8:103423869-103423919	HIPEpiC	eye:	n/a
12	chr8:103424494-103424544	Caco-2	colon:	n/a
13	chr8:103424372-103424422	H1-hESC	embryonic stem cell:	embryo
14	chr8:103423869-103423919	ProgFib	skin:	n/a
15	chr8:103424477-103424527	NT2-D1	testis:	n/a
16	chr8:103424494-103424544	HCM	heart:	n/a
17	chr8:103424275-103424325	HEEpiC	esophagus:	n/a
18	chr8:103424372-103424422	AG10803	skin:	n/a
19	chr8:103424275-103424325	HEK293	kidney:	embryo
20	chr8:103424494-103424544	SK-N-SH_RA	brain:	n/a
21	chr8:103424275-103424325	AG04449	skin:	fetal
22	chr8:103424372-103424422	SK-N-SH	brain:	n/a
23	chr8:103424372-103424422	HUVEC	blood vessel:	n/a
24	chr8:103425293-103425343	AG10803	skin:	n/a
25	chr8:103423869-103423919	AG04449	skin:	fetal
26	chr8:103424275-103424325	MCF-7	breast:	n/a
27	chr8:103424826-103424876	SKMC	muscle:	n/a
28	chr8:103424372-103424422	HRCEpiC	kidney:	n/a
29	chr8:103425293-103425343	PrEC	prostate:	n/a
30	chr8:103424275-103424325	RPTEC	kidney:	n/a
31	chr8:103424372-103424422	HPAEpiC	pulmonary alveolar:	n/a
32	chr8:103424372-103424422	NH-A	brain:	n/a
33	chr8:103424494-103424544	SK-N-SH	brain:	n/a
34	chr8:103425193-103425243	NHDF-neo	bronchial:	n/a
35	chr8:103425293-103425343	HCPEpiC	choroid plexus:	n/a
36	chr8:103424826-103424876	GM12878	blood:	n/a
37	chr8:103425193-103425243	HRPEpiC	eye:	n/a
38	chr8:103425193-103425243	AG09319	gingival:	n/a
39	chr8:103424477-103424527	AoSMC	blood vessel:	n/a
40	chr8:103424372-103424422	HEEpiC	esophagus:	n/a
41	chr8:103424372-103424422	Jurkat	blood:	n/a
42	chr8:103425193-103425243	PANC-1	pancreas:	n/a
43	chr8:103425293-103425343	HNPCEpiC	eye:	n/a
44	chr8:103425193-103425243	HRE	kidney:	n/a
45	chr8:103424372-103424422	T-47D	breast:	n/a
46	chr8:103424494-103424544	Jurkat	blood:	n/a
47	chr8:103425193-103425243	Hela-S3	cervix:	n/a
48	chr8:103424494-103424544	HIPEpiC	eye:	n/a
49	chr8:103424372-103424422	AG09309	skin:	n/a
50	chr8:103424477-103424527	HUVEC	blood vessel:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49395721..49396616-chr8:103424172..103424743,2	NB4	blood:
2	chr8:103421399..103423830-chr8:103819502..103822467,3	K562	blood:
3	chr8:103283674..103286136-chr8:103423497..103425082,2	MCF-7	breast:
4	chr8:103422101..103424296-chr8:103588950..103591613,2	K562	blood:
5	chr8:103423558..103425413-chr8:104426002..104428087,2	MCF-7	breast:
6	chr20:45987491..45990463-chr8:103421927..103424903,2	MCF-7	breast:
7	chr8:103371293..103374711-chr8:103423320..103425587,3	K562	blood:
8	chr5:74632034..74632846-chr8:103424779..103425435,2	Hela-S3	cervix:
9	chr8:103422183..103424651-chr8:103483632..103485797,2	K562	blood:
10	chr8:103422495..103425381-chr8:103875147..103876814,2	MCF-7	breast:
11	chr8:103420136..103427906-chr8:103815410..103825210,22	MCF-7	breast:
12	chr8:103250055..103252401-chr8:103423281..103425578,3	K562	blood:
13	chr8:103423150..103424688-chr8:103591046..103593635,2	MCF-7	breast:
14	chr8:103424815..103426910-chr8:103666602..103668807,2	MCF-7	breast:
15	chr8:103421430..103426226-chr8:103872960..103876390,5	K562	blood:
16	chr8:103422537..103426688-chr8:103540100..103542473,3	K562	blood:
17	chr1:62207014..62208687-chr8:103424188..103425708,2	MCF-7	breast:
18	chr8:103359154..103362889-chr8:103423110..103427139,3	K562	blood:
19	chr8:103423160..103425899-chr8:103539167..103542509,5	MCF-7	breast:
20	chr8:103422537..103425322-chr8:103540234..103542841,3	K562	blood:
21	chr8:103422161..103424073-chr8:103822681..103825599,2	MCF-7	breast:
22	chr8:103425193..103428090-chr8:103658555..103660884,2	MCF-7	breast:
23	chr8:103420666..103426323-chr8:103664417..103668286,11	K562	blood:
24	chr8:103421260..103424312-chr8:103817341..103821389,4	K562	blood:
25	chr8:103400271..103401857-chr8:103422976..103425727,2	MCF-7	breast:
26	chr8:103421691..103424111-chr8:103663160..103665928,2	K562	blood:
27	chr17:56707832..56709571-chr8:103422818..103425286,2	MCF-7	breast:
28	chr12:53773983..53774648-chr8:103424425..103425352,2	HCT-116	colon:
29	chr8:103273290..103276043-chr8:103422341..103425463,3	MCF-7	breast:
30	chr8:101961253..101963473-chr8:103423229..103424964,2	MCF-7	breast:
31	chr8:103396572..103398863-chr8:103422256..103424667,2	K562	blood:
32	chr8:103423355..103425914-chr8:103664541..103666736,4	MCF-7	breast:
33	chr8:103422090..103425844-chr8:103540841..103544782,4	MCF-7	breast:
34	chr8:103412213..103414330-chr8:103420838..103423448,2	MCF-7	breast:
35	chr8:103327228..103329926-chr8:103422908..103424806,2	MCF-7	breast:
36	chr19:1268527..1269488-chr8:103425067..103425598,2	HCT-116	colon:
37	chr8:103422749..103426860-chr8:103874401..103878662,6	MCF-7	breast:
38	chr8:103422007..103426020-chr8:103666229..103670037,6	K562	blood:
39	chr8:103354048..103356355-chr8:103421459..103423886,2	MCF-7	breast:
40	chr8:103421569..103424868-chr8:103447011..103449629,3	MCF-7	breast:
41	chr8:103396006..103397979-chr8:103422778..103424559,3	MCF-7	breast:
42	chr8:103423071..103424843-chr8:103817018..103819955,2	MCF-7	breast:

No data

Variant related genes	Relation type
UBR5	TF binding region
ENSG00000253923	TF binding region
UBR5	CpG island
ENSG00000253923	CpG island
ENSG00000164934	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000164924	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000238533	chromatin interactions
ENSG00000113161	chromatin interactions
ENSG00000164933	chromatin interactions
ENSG00000253669	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000104517	chromatin interactions
ENSG00000271200	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000132849	chromatin interactions
ENSG00000233276	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000155090	chromatin interactions
ENSG00000247372	chromatin interactions
ENSG00000185591	chromatin interactions
ENSG00000253320	chromatin interactions
ENSG00000253633	chromatin interactions

Extended variants
information (count: 90 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72606690	chr8:103423441-103423442	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533744699	chr8:103423456-103423457	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs558618094	chr8:103423502-103423503	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs556284338	chr8:103423508-103423509	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs537514026	chr8:103423582-103423583	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs556230359	chr8:103423587-103423588	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs574898338	chr8:103423618-103423619	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs574507134	chr8:103423620-103423621	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs150714210	chr8:103423658-103423659	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs572435298	chr8:103423660-103423661	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs545778568	chr8:103423672-103423673	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs36077096	chr8:103423673-103423674	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs564289912	chr8:103423686-103423687	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs538350221	chr8:103423689-103423690	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs13270916	chr8:103423713-103423714	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187141559	chr8:103423751-103423752	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
17	rs529910550	chr8:103423759-103423760	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs139060173	chr8:103423788-103423789	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs566754842	chr8:103423813-103423814	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs534043936	chr8:103423816-103423817	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs143519707	chr8:103423881-103423882	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs117782297	chr8:103423933-103423934	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs537860083	chr8:103423989-103423990	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs555980026	chr8:103424028-103424029	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs369227718	chr8:103424082-103424083	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs374136727	chr8:103424098-103424099	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs191676285	chr8:103424103-103424104	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs557824116	chr8:103424105-103424106	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs553980388	chr8:103424217-103424218	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs572321456	chr8:103424220-103424221	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs112043052	chr8:103424226-103424227	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs564810255	chr8:103424239-103424240	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs576348182	chr8:103424279-103424280	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs543845179	chr8:103424286-103424287	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs368687311	chr8:103424364-103424365	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs370935672	chr8:103424367-103424368	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
37	rs529439861	chr8:103424377-103424378	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs547923999	chr8:103424383-103424384	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
39	rs375131598	chr8:103424392-103424393	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs200446456	chr8:103424415-103424416	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs115842451	chr8:103424464-103424465	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
42	rs371979726	chr8:103424467-103424468	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs376765196	chr8:103424468-103424469	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs367743863	chr8:103424473-103424474	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs570767113	chr8:103424487-103424488	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs371484628	chr8:103424488-103424489	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs375868496	chr8:103424499-103424500	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs531208383	chr8:103424646-103424647	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs183083205	chr8:103424659-103424660	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs567801053	chr8:103424668-103424669	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Autism	22495309	CNVD
Prostate cancer	22341455	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:310 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103421600-103423600	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr8:103421600-103425400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:103421800-103423600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:103422000-103423600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:103422000-103423600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:103422000-103423600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:103422200-103423600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr8:103422200-103424000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:103422200-103424000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:103422200-103424200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:103422200-103425400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:103422200-103425400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:103422200-103425800	Active TSS	Fetal Brain Female	brain
14	chr8:103422200-103425800	Active TSS	HMEC	breast
15	chr8:103422200-103426000	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr8:103422400-103423600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr8:103422400-103423600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr8:103422400-103423600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:103422400-103423600	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr8:103422400-103424000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:103422400-103424200	Active TSS	Right Atrium	heart
22	chr8:103422400-103425600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:103422400-103425800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr8:103422400-103425800	Active TSS	NHLF	lung
25	chr8:103422600-103423600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr8:103422600-103425400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr8:103422600-103425400	Active TSS	HepG2	liver
28	chr8:103422600-103425600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:103422600-103425600	Active TSS	Right Ventricle	heart
30	chr8:103422600-103425800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr8:103422600-103425800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:103422600-103425800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:103422600-103425800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:103422600-103425800	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr8:103422600-103425800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr8:103422800-103423600	Flanking Active TSS	Fetal Muscle Leg	muscle
37	chr8:103422800-103423800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr8:103422800-103423800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr8:103422800-103423800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr8:103422800-103423800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr8:103422800-103423800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr8:103422800-103425400	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr8:103422800-103425400	Active TSS	Muscle Satellite Cultured Cells	--
44	chr8:103422800-103425400	Active TSS	Colon Smooth Muscle	Colon
45	chr8:103422800-103425400	Active TSS	Esophagus	oesophagus
46	chr8:103422800-103425400	Active TSS	Pancreas	Pancrea
47	chr8:103422800-103425400	Active TSS	Small Intestine	intestine
48	chr8:103422800-103425600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:103422800-103425600	Active TSS	Aorta	Aorta
50	chr8:103422800-103425600	Active TSS	Fetal Muscle Trunk	muscle

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