Variant report

Variant	nsv887971
Chromosome Location	chr7:39662268-39745775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1406)
CpG islands
(count:1221)
Chromatin interactive
region (count:91)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1406 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:39662382-39662770	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:39694267-39694295	K562	blood:	n/a	n/a
3	ARID3A	chr7:39664305-39665535	K562	blood:	n/a	n/a
4	ARID3A	chr7:39665786-39665859	K562	blood:	n/a	n/a
5	ARID3A	chr7:39663150-39663350	K562	blood:	n/a	n/a
6	ARID3A	chr7:39665001-39665487	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:39661542-39662375	K562	blood:	n/a	n/a
8	ARID3A	chr7:39667373-39667715	K562	blood:	n/a	n/a
9	ARID3A	chr7:39663005-39663466	HepG2	liver:	n/a	n/a
10	ATF1	chr7:39690475-39690605	K562	blood:	n/a	n/a
11	ATF1	chr7:39718603-39718753	K562	blood:	n/a	n/a
12	ATF1	chr7:39664595-39665241	K562	blood:	n/a	n/a
13	ATF2	chr7:39662493-39663333	GM12878	blood:	n/a	n/a
14	ATF2	chr7:39662699-39663183	H1-hESC	embryonic stem cell:	n/a	n/a
15	ATF2	chr7:39725736-39726281	GM12878	blood:	n/a	n/a
16	ATF2	chr7:39662798-39663276	GM12878	blood:	n/a	n/a
17	ATF2	chr7:39725815-39726461	GM12878	blood:	n/a	n/a
18	ATF2	chr7:39662511-39663130	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr7:39662785-39663157	K562	blood:	n/a	chr7:39663136-39663145 chr7:39662943-39662963
20	BACH1	chr7:39662540-39663263	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr7:39725852-39726071	GM12878	blood:	n/a	n/a
22	BATF	chr7:39725768-39726061	GM12878	blood:	n/a	n/a
23	BCL11A	chr7:39725824-39726075	GM12878	blood:	n/a	n/a
24	BCL11A	chr7:39725821-39726166	GM12878	blood:	n/a	n/a
25	BCL3	chr7:39662613-39663330	A549	lung:	n/a	chr7:39663141-39663154 chr7:39663032-39663041
26	BCL3	chr7:39725779-39726139	GM12878	blood:	n/a	n/a
27	BCLAF1	chr7:39662499-39663499	GM12878	blood:	n/a	chr7:39663469-39663482 chr7:39663477-39663486 chr7:39663141-39663154 chr7:39663436-39663449 chr7:39663472-39663485 chr7:39663473-39663486 chr7:39663474-39663483 chr7:39663032-39663041
28	BCLAF1	chr7:39662717-39663474	GM12878	blood:	n/a	chr7:39663141-39663154 chr7:39663436-39663449 chr7:39663032-39663041
29	BHLHE40	chr7:39666038-39666217	K562	blood:	n/a	n/a
30	BHLHE40	chr7:39662471-39665231	K562	blood:	n/a	chr7:39663497-39663513 chr7:39663776-39663792 chr7:39663770-39663786 chr7:39663467-39663483
31	BHLHE40	chr7:39724607-39724614	A549	lung:	n/a	n/a
32	BHLHE40	chr7:39697849-39697953	GM12878	blood:	n/a	n/a
33	BHLHE40	chr7:39662312-39664819	GM12878	blood:	n/a	chr7:39663497-39663513 chr7:39663776-39663792 chr7:39663770-39663786 chr7:39663467-39663483
34	BHLHE40	chr7:39662571-39663717	HepG2	liver:	n/a	chr7:39663497-39663513 chr7:39663467-39663483
35	BRCA1	chr7:39663924-39664629	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr7:39662989-39663350	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr7:39681948-39682046	Hela-S3	cervix:	n/a	n/a
38	BRCA1	chr7:39662899-39663383	HepG2	liver:	n/a	n/a
39	CBX3	chr7:39701584-39701845	K562	blood:	n/a	n/a
40	CBX3	chr7:39662846-39663445	K562	blood:	n/a	n/a
41	CCNT2	chr7:39662438-39663899	K562	blood:	n/a	chr7:39662984-39662993
42	CCNT2	chr7:39667077-39667286	K562	blood:	n/a	n/a
43	CCNT2	chr7:39664973-39665229	K562	blood:	n/a	n/a
44	CEBPB	chr7:39735684-39736004	K562	blood:	n/a	chr7:39735828-39735839
45	CEBPB	chr7:39731209-39731807	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr7:39742820-39743094	IMR90	lung:	n/a	n/a
47	CEBPB	chr7:39671713-39672139	IMR90	lung:	n/a	n/a
48	CEBPB	chr7:39662903-39663867	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr7:39709723-39709857	HepG2	liver:	n/a	chr7:39709800-39709811
50	CEBPB	chr7:39735652-39736011	IMR90	lung:	n/a	chr7:39735828-39735839

(count:1221 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:39706299-39706349	HepG2	liver:	n/a
2	chr7:39706299-39706349	HepG2	liver:	n/a
3	chr7:39706299-39706349	HCF	heart:	n/a
4	chr7:39662998-39663048	MCF10A-Er-Src	breast:	n/a
5	chr7:39662930-39662980	NHBE	bronchial:	n/a
6	chr7:39665132-39665182	HEK293	kidney:	embryo
7	chr7:39697947-39697997	HAEpiC	amniotic membrane:	n/a
8	chr7:39664614-39664664	ProgFib	skin:	n/a
9	chr7:39663190-39663240	GM19239	blood:	n/a
10	chr7:39666811-39666861	SK-N-SH_RA	brain:	n/a
11	chr7:39663756-39663806	AG10803	skin:	n/a
12	chr7:39690982-39691032	GM12892	blood:	n/a
13	chr7:39706299-39706349	A549	lung:	n/a
14	chr7:39662764-39662814	AG09309	skin:	n/a
15	chr7:39662764-39662814	SAEC	small airway:	n/a
16	chr7:39683993-39684043	K562	blood:	n/a
17	chr7:39683993-39684043	HUVEC	blood vessel:	n/a
18	chr7:39662998-39663048	BE2_C	brain:	n/a
19	chr7:39706299-39706349	HPAEpiC	pulmonary alveolar:	n/a
20	chr7:39731097-39731147	HPAEpiC	pulmonary alveolar:	n/a
21	chr7:39662764-39662814	H1-hESC	embryonic stem cell:	embryo
22	chr7:39697947-39697997	A549	lung:	n/a
23	chr7:39683993-39684043	HL-60	blood:	n/a
24	chr7:39683993-39684043	HAEpiC	amniotic membrane:	n/a
25	chr7:39662764-39662814	AoSMC	blood vessel:	n/a
26	chr7:39663190-39663240	SAEC	small airway:	n/a
27	chr7:39662998-39663048	NB4	blood:	n/a
28	chr7:39662764-39662814	PrEC	prostate:	n/a
29	chr7:39662467-39662517	NH-A	brain:	n/a
30	chr7:39697947-39697997	BE2_C	brain:	n/a
31	chr7:39740448-39740498	Jurkat	blood:	n/a
32	chr7:39697947-39697997	AG04449	skin:	fetal
33	chr7:39663054-39663104	HCF	heart:	n/a
34	chr7:39663043-39663093	NT2-D1	testis:	n/a
35	chr7:39731097-39731147	HAEpiC	amniotic membrane:	n/a
36	chr7:39683993-39684043	SK-N-SH_RA	brain:	n/a
37	chr7:39662998-39663048	HRCEpiC	kidney:	n/a
38	chr7:39666811-39666861	SK-N-MC	brain:	n/a
39	chr7:39697947-39697997	NT2-D1	testis:	n/a
40	chr7:39663043-39663093	HCM	heart:	n/a
41	chr7:39665132-39665182	HMEC	breast:	n/a
42	chr7:39662995-39663045	NH-A	brain:	n/a
43	chr7:39731097-39731147	NH-A	brain:	n/a
44	chr7:39662764-39662814	GM19239	blood:	n/a
45	chr7:39731097-39731147	ProgFib	skin:	n/a
46	chr7:39663190-39663240	Caco-2	colon:	n/a
47	chr7:39662467-39662517	Jurkat	blood:	n/a
48	chr7:39666811-39666861	SK-N-SH	brain:	n/a
49	chr7:39666811-39666861	A549	lung:	n/a
50	chr7:39663043-39663093	PANC-1	pancreas:	n/a

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:39617765..39620727-chr7:39709688..39712417,2	K562	blood:
2	chr7:39736933..39739214-chr7:39753535..39757472,3	K562	blood:
3	chr7:39678848..39680622-chr7:39760404..39763010,2	K562	blood:
4	chr7:39732340..39735300-chr7:39760265..39762340,2	K562	blood:
5	chr7:39683867..39685408-chr7:39690529..39693050,2	K562	blood:
6	chr14:103988878..103989543-chr7:39662895..39663568,2	Hela-S3	cervix:
7	chr7:39660619..39666370-chr7:39771379..39777121,13	MCF-7	breast:
8	chr7:39686447..39688717-chr7:39690234..39692105,2	K562	blood:
9	chr7:39662103..39664147-chr7:39707477..39710458,2	MCF-7	breast:
10	chr7:39671141..39673039-chr7:39755169..39757969,2	K562	blood:
11	chr7:39643128..39644638-chr7:39660434..39662671,2	MCF-7	breast:
12	chr7:39649814..39652615-chr7:39661583..39664092,3	MCF-7	breast:
13	chr7:39728943..39730510-chr7:39730672..39733182,2	K562	blood:
14	chr7:39716806..39718805-chr7:39760155..39761984,2	K562	blood:
15	chr7:39604710..39608797-chr7:39663149..39665225,4	K562	blood:
16	chr7:39678677..39680860-chr7:39681239..39684252,3	K562	blood:
17	chr7:39678677..39680860-chr7:39681239..39684252,3	K562	blood:
18	chr5:102455392..102456302-chr7:39663362..39664060,2	Hela-S3	cervix:
19	chr7:39729892..39732423-chr7:39733568..39735787,2	K562	blood:
20	chr17:56735362..56737542-chr7:39660335..39663097,2	MCF-7	breast:
21	chr15:66585689..66586420-chr7:39662975..39663496,2	HCT-116	colon:
22	chr7:39705505..39707124-chr7:39714403..39716218,2	K562	blood:
23	chr7:39670051..39674974-chr7:39675213..39680609,7	K562	blood:
24	chr7:39683867..39685408-chr7:39690529..39693050,2	K562	blood:
25	chr7:39670051..39673950-chr7:39675213..39677568,3	K562	blood:
26	chr1:167906122..167906709-chr7:39663072..39663679,2	Hela-S3	cervix:
27	chr7:39660345..39662229-chr7:39666445..39668711,2	MCF-7	breast:
28	chr7:39674562..39677134-chr7:39680609..39682142,2	K562	blood:
29	chr7:39666780..39669048-chr7:39669920..39673887,3	MCF-7	breast:
30	chr7:39666780..39669048-chr7:39669920..39673887,3	MCF-7	breast:
31	chr7:39660516..39662861-chr7:39772033..39774524,2	K562	blood:
32	chr7:12726248..12727150-chr7:39662597..39663297,2	Hela-S3	cervix:
33	chr7:39661536..39664471-chr7:39679572..39681314,3	MCF-7	breast:
34	chr3:186285270..186285782-chr7:39663616..39664262,2	Hela-S3	cervix:
35	chr7:39661973..39663935-chr7:39682940..39685459,2	MCF-7	breast:
36	chr7:39661695..39665595-chr7:39674627..39679140,4	MCF-7	breast:
37	chr7:39672032..39673667-chr7:39681503..39683307,2	K562	blood:
38	chr7:39659213..39661444-chr7:39666943..39669270,2	K562	blood:
39	chr7:39739429..39741292-chr7:39741440..39743225,2	MCF-7	breast:
40	chr7:39677650..39680177-chr7:39682752..39684306,2	K562	blood:
41	chr7:39728943..39730510-chr7:39730672..39733182,2	K562	blood:
42	chr7:39723283..39725435-chr7:39727516..39730400,2	MCF-7	breast:
43	chr7:39696448..39698562-chr7:39706313..39708864,2	K562	blood:
44	chr7:39650430..39653003-chr7:39667356..39670007,2	K562	blood:
45	chr7:39663965..39666888-chr7:39745709..39748529,2	K562	blood:
46	chr7:39663090..39665724-chr7:39988469..39990285,2	MCF-7	breast:
47	chr7:39745397..39755065-chr7:39757582..39762895,14	K562	blood:
48	chr7:39672032..39673667-chr7:39681503..39683307,2	K562	blood:
49	chr7:39605969..39608430-chr7:39663149..39665540,3	K562	blood:
50	chr7:39661332..39663000-chr7:39732479..39734683,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALA-1	chr7:39739682-39740168	l_3400_chr7:39739484-39777213_ovary
2	lnc-RALA-1	chr7:39739485-39739674	l_3400_chr7:39739484-39777213_ovary
3	lnc-C7orf11-4	chr7:39742579-39742895	ENSG00000228554.1
4	lnc-C7orf11-4	chr7:39739940-39740353	ENSG00000228554.1

No data

Variant related genes	Relation type
ENSG00000228554	TF binding region
RALA	TF binding region
ENSG00000228554	CpG island
RALA	CpG island
ENSG00000231951	chromatin interactions
ENSG00000122644	chromatin interactions
ENSG00000228554	chromatin interactions
ENSG00000261318	chromatin interactions
ENSG00000259826	chromatin interactions
ENSG00000227172	chromatin interactions
ENSG00000143158	chromatin interactions
ENSG00000166165	chromatin interactions
ENSG00000143164	chromatin interactions
ENSG00000065883	chromatin interactions
ENSG00000257433	chromatin interactions
ENSG00000005175	chromatin interactions
ENSG00000145725	chromatin interactions
ENSG00000145723	chromatin interactions
ENSG00000188185	chromatin interactions
ENSG00000241127	chromatin interactions
ENSG00000096060	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000166938	chromatin interactions
ENSG00000006451	chromatin interactions

Extended variants
information (count: 2835 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:2835 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2008819	chr7:39662268-39662269	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs143596055	chr7:39662308-39662309	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs115070198	chr7:39662315-39662316	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs73689214	chr7:39662333-39662334	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs557656346	chr7:39662348-39662349	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs138222673	chr7:39662397-39662398	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs370044028	chr7:39662436-39662437	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs573644956	chr7:39662459-39662460	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs35772755	chr7:39662462-39662463	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs542619074	chr7:39662481-39662482	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs552937143	chr7:39662514-39662515	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs573046117	chr7:39662560-39662561	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs545461056	chr7:39662595-39662596	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs564970058	chr7:39662596-39662597	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs576794955	chr7:39662651-39662652	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs35120057	chr7:39662686-39662687	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
17	rs541021211	chr7:39662803-39662804	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs377070160	chr7:39662843-39662844	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs544051073	chr7:39662857-39662858	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs561172855	chr7:39662919-39662920	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs6976303	chr7:39662925-39662926	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112491054	chr7:39662964-39662965	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs546658734	chr7:39662967-39662968	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs560188684	chr7:39662997-39662998	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs532275226	chr7:39663025-39663026	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs367918326	chr7:39663038-39663039	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs192369004	chr7:39663088-39663089	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs568830599	chr7:39663111-39663112	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs537654996	chr7:39663156-39663157	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs550852719	chr7:39663200-39663201	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs567655795	chr7:39663201-39663202	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs536543697	chr7:39663423-39663424	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs552975934	chr7:39663441-39663442	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs572887912	chr7:39663454-39663455	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
35	rs538623575	chr7:39663457-39663458	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
36	rs541683658	chr7:39663498-39663499	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs575604881	chr7:39663623-39663624	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs544405601	chr7:39663685-39663686	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs561055306	chr7:39663693-39663694	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs184788795	chr7:39663723-39663724	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs372511040	chr7:39663728-39663729	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs188767700	chr7:39663743-39663744	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs532154652	chr7:39663745-39663746	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs542035265	chr7:39663747-39663748	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
45	rs182010937	chr7:39663754-39663755	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs562612346	chr7:39663804-39663805	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs563251545	chr7:39663815-39663816	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs186319028	chr7:39663825-39663826	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs551199029	chr7:39663874-39663875	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs139750628	chr7:39663896-39663897	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3245 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39658000-39662400	Weak transcription	Esophagus	oesophagus
2	chr7:39660400-39662400	Enhancers	Primary hematopoietic stem cells	blood
3	chr7:39661000-39662400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr7:39661000-39662400	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:39661200-39662400	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr7:39661200-39662600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:39661200-39662800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr7:39661400-39662400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:39661400-39662600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:39661400-39662800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:39661400-39662800	Flanking Active TSS	NH-A	brain
12	chr7:39661600-39662400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:39661600-39662400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:39661600-39662400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:39661600-39662400	Weak transcription	Spleen	Spleen
16	chr7:39661600-39662400	Flanking Active TSS	GM12878-XiMat	blood
17	chr7:39661600-39662400	Flanking Active TSS	NHLF	lung
18	chr7:39661600-39662600	Flanking Active TSS	Dnd41	blood
19	chr7:39661600-39662600	Flanking Active TSS	K562	blood
20	chr7:39661600-39662800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:39661600-39663000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr7:39661600-39664600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr7:39661800-39662400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:39661800-39662400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr7:39661800-39662400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr7:39661800-39662400	Enhancers	Small Intestine	intestine
27	chr7:39661800-39662400	Flanking Active TSS	HepG2	liver
28	chr7:39661800-39662600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:39661800-39662600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:39661800-39662600	Flanking Active TSS	HSMM	muscle
31	chr7:39661800-39662600	Flanking Active TSS	HSMMtube	muscle
32	chr7:39661800-39662800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr7:39661800-39664400	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr7:39661800-39664600	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr7:39662000-39662400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:39662000-39662400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:39662000-39662400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr7:39662000-39662400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:39662000-39662400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:39662000-39662400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr7:39662000-39662400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:39662000-39662400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr7:39662000-39662400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr7:39662000-39662400	Weak transcription	Pancreas	Pancrea
45	chr7:39662000-39662400	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr7:39662000-39662600	Flanking Active TSS	Liver	Liver
47	chr7:39662000-39662600	Active TSS	Brain Germinal Matrix	brain
48	chr7:39662000-39662600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
49	chr7:39662000-39662600	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr7:39662000-39662600	Flanking Active TSS	Fetal Intestine Small	intestine

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