Variant report

Variant	rs61995709
Chromosome Location	chr8:96281492-96281493
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:427)
CpG islands
(count:122)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF4	chr8:96281416-96282218	GM12878	blood:	n/a	n/a
2	ARID3A	chr8:96281485-96282681	K562	blood:	n/a	chr8:96282168-96282184
3	HEY1	chr8:96280995-96282433	HepG2	liver:	n/a	chr8:96281241-96281256
4	ELK1	chr8:96281220-96282503	K562	blood:	n/a	n/a
5	SIN3A	chr8:96280710-96282538	H1-hESC	embryonic stem cell:	n/a	chr8:96281619-96281627 chr8:96281191-96281202
6	NFYB	chr8:96281335-96281641	GM12878	blood:	n/a	n/a
7	MYBL2	chr8:96281009-96282485	HepG2	liver:	n/a	n/a
8	POLR2A	chr8:96281057-96282699	PBDE	blood:	n/a	n/a
9	TEAD4	chr8:96280975-96282628	K562	blood:	n/a	n/a
10	MYC	chr8:96281352-96282256	K562	blood:	n/a	chr8:96281719-96281735 chr8:96281536-96281545
11	NFIC	chr8:96281192-96282568	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:96280639-96282505	MCF-7	breast:	n/a	n/a
13	TAF1	chr8:96281040-96281787	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr8:96280733-96282556	GM19099	blood:	n/a	n/a
15	TRIM28	chr8:96281279-96282309	K562	blood:	n/a	n/a
16	RELA	chr8:96280765-96282444	GM10847	blood:	n/a	n/a
17	MYC	chr8:96281180-96282587	K562	blood:	n/a	chr8:96281719-96281735 chr8:96281536-96281545
18	YY1	chr8:96280967-96282424	K562	blood:	n/a	chr8:96281242-96281253 chr8:96281193-96281202
19	MAX	chr8:96280771-96282508	MCF-7	breast:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
20	TAF1	chr8:96280993-96282460	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr8:96281483-96282404	K562	blood:	n/a	n/a
22	UBTF	chr8:96281154-96281985	K562	blood:	n/a	n/a
23	POLR2A	chr8:96281009-96282158	GM12891	blood:	n/a	n/a
24	POLR2A	chr8:96281039-96282129	GM12891	blood:	n/a	n/a
25	MYC	chr8:96280791-96282464	Hela-S3	cervix:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
26	FOXP2	chr8:96280999-96282149	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr8:96280775-96282011	A549	lung:	n/a	n/a
28	POLR2A	chr8:96280729-96282519	GM18526	blood:	n/a	n/a
29	MAZ	chr8:96280405-96282448	Hela-S3	cervix:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
30	MAX	chr8:96280696-96282275	H1-hESC	embryonic stem cell:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
31	HA-E2F1	chr8:96280562-96282388	MCF-7	breast:	n/a	chr8:96282082-96282091 chr8:96281518-96281527
32	EP300	chr8:96281371-96282275	HepG2	liver:	n/a	n/a
33	ZBTB33	chr8:96281245-96282216	A549	lung:	n/a	n/a
34	USF1	chr8:96281224-96282273	A549	lung:	n/a	n/a
35	POLR2A	chr8:96280997-96282558	K562	blood:	n/a	n/a
36	POLR2A	chr8:96280992-96281763	GM12878	blood:	n/a	n/a
37	POLR2A	chr8:96281009-96282174	GM12892	blood:	n/a	n/a
38	POLR2A	chr8:96280985-96282152	GM12891	blood:	n/a	n/a
39	HDAC2	chr8:96281348-96281842	K562	blood:	n/a	chr8:96281517-96281526
40	TCF7L2	chr8:96281013-96282405	PANC-1	pancreas:	n/a	n/a
41	MAFK	chr8:96281385-96282507	K562	blood:	n/a	chr8:96281869-96281880 chr8:96282100-96282111 chr8:96281869-96281880
42	POLR2A	chr8:96281006-96282458	ECC-1	luminal epithelium:	n/a	n/a
43	POLR2A	chr8:96280996-96282085	A549	lung:	n/a	n/a
44	POLR2A	chr8:96280710-96282469	U87	brain:	n/a	n/a
45	E2F6	chr8:96281337-96281799	K562	blood:	n/a	chr8:96281518-96281527
46	POLR2A	chr8:96280989-96282332	GM12892	blood:	n/a	n/a
47	TBP	chr8:96280709-96282768	H1-hESC	embryonic stem cell:	n/a	n/a
48	EP300	chr8:96281172-96282659	GM12878	blood:	n/a	n/a
49	POLR2A	chr8:96280761-96282053	Gliobla	brain:	n/a	n/a
50	POLR2A	chr8:96280679-96282501	GM12892	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:96281491-96281541	HIPEpiC	eye:	n/a
2	chr8:96281491-96281541	HCT-116	colon:	n/a
3	chr8:96281491-96281541	MCF-7	breast:	n/a
4	chr8:96281491-96281541	AG04449	skin:	fetal
5	chr8:96281478-96281528	SK-N-SH_RA	brain:	n/a
6	chr8:96281478-96281528	PANC-1	pancreas:	n/a
7	chr8:96281491-96281541	ovcar-3	ovarian:	n/a
8	chr8:96281478-96281528	NB4	blood:	n/a
9	chr8:96281491-96281541	HNPCEpiC	eye:	n/a
10	chr8:96281478-96281528	GM12878	blood:	n/a
11	chr8:96281491-96281541	SK-N-SH_RA	brain:	n/a
12	chr8:96281491-96281541	T-47D	breast:	n/a
13	chr8:96281491-96281541	ECC-1	luminal epithelium:	n/a
14	chr8:96281478-96281528	H1-hESC	embryonic stem cell:	embryo
15	chr8:96281491-96281541	GM12892	blood:	n/a
16	chr8:96281478-96281528	ECC-1	luminal epithelium:	n/a
17	chr8:96281478-96281528	MCF10A-Er-Src	breast:	n/a
18	chr8:96281491-96281541	AoSMC	blood vessel:	n/a
19	chr8:96281491-96281541	HRPEpiC	eye:	n/a
20	chr8:96281478-96281528	NHDF-neo	bronchial:	n/a
21	chr8:96281478-96281528	NHBE	bronchial:	n/a
22	chr8:96281491-96281541	HPAEpiC	pulmonary alveolar:	n/a
23	chr8:96281478-96281528	RPTEC	kidney:	n/a
24	chr8:96281491-96281541	Hela-S3	cervix:	n/a
25	chr8:96281478-96281528	Hela-S3	cervix:	n/a
26	chr8:96281491-96281541	HRCEpiC	kidney:	n/a
27	chr8:96281478-96281528	SKMC	muscle:	n/a
28	chr8:96281491-96281541	NT2-D1	testis:	n/a
29	chr8:96281491-96281541	NHBE	bronchial:	n/a
30	chr8:96281478-96281528	HRCEpiC	kidney:	n/a
31	chr8:96281478-96281528	HCF	heart:	n/a
32	chr8:96281478-96281528	Caco-2	colon:	n/a
33	chr8:96281478-96281528	HCPEpiC	choroid plexus:	n/a
34	chr8:96281478-96281528	AG09309	skin:	n/a
35	chr8:96281491-96281541	HMEC	breast:	n/a
36	chr8:96281491-96281541	NH-A	brain:	n/a
37	chr8:96281478-96281528	A549	lung:	n/a
38	chr8:96281491-96281541	AG10803	skin:	n/a
39	chr8:96281478-96281528	SAEC	small airway:	n/a
40	chr8:96281491-96281541	NHDF-neo	bronchial:	n/a
41	chr8:96281491-96281541	HAEpiC	amniotic membrane:	n/a
42	chr8:96281478-96281528	T-47D	breast:	n/a
43	chr8:96281491-96281541	Jurkat	blood:	n/a
44	chr8:96281491-96281541	HRE	kidney:	n/a
45	chr8:96281478-96281528	HCM	heart:	n/a
46	chr8:96281478-96281528	GM12892	blood:	n/a
47	chr8:96281491-96281541	HCF	heart:	n/a
48	chr8:96281478-96281528	ProgFib	skin:	n/a
49	chr8:96281478-96281528	HL-60	blood:	n/a
50	chr8:96281491-96281541	ProgFib	skin:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:54909734..54911738-chr8:96280729..96282427,2	MCF-7	breast:
2	chr8:96111950..96115004-chr8:96279819..96283605,3	MCF-7	breast:
3	chr8:95651016..95653604-chr8:96280429..96282986,2	MCF-7	breast:
4	chr2:61244154..61244948-chr8:96281339..96281903,2	Hela-S3	cervix:
5	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
6	chr8:96144909..96147734-chr8:96280323..96283069,4	K562	blood:
7	chr14:70232370..70233879-chr8:96280749..96282540,2	MCF-7	breast:
8	chr8:95835507..95837268-chr8:96280531..96283343,2	MCF-7	breast:
9	chr8:95907501..95911346-chr8:96279945..96283030,5	MCF-7	breast:
10	chr20:3776660..3777368-chr8:96281076..96281913,2	HCT-116	colon:
11	chr12:92538830..92539812-chr8:96281362..96282131,2	Hela-S3	cervix:
12	chr8:95906455..95910081-chr8:96279389..96281894,5	K562	blood:
13	chr8:96044471..96047276-chr8:96280162..96282608,2	MCF-7	breast:
14	chr8:95960086..95962162-chr8:96280907..96282894,2	MCF-7	breast:
15	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
16	chr8:96143208..96147491-chr8:96279441..96282856,8	MCF-7	breast:
17	chr2:97521965..97524958-chr8:96280956..96282974,2	MCF-7	breast:
18	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:
19	chr8:96279721..96282098-chr8:97246962..97249259,2	MCF-7	breast:

No data

Variant related genes	Relation type
C8orf37	TF binding region
C8orf37	CpG island
ENSG00000163126	Chromatin interaction
ENSG00000214226	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000101224	Chromatin interaction
ENSG00000156467	Chromatin interaction
ENSG00000254224	Chromatin interaction
ENSG00000153933	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000162927	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000162928	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000245904	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs13260234	1.00[ASN][1000 genomes]
rs13267037	1.00[ASN][1000 genomes]
rs13267333	1.00[ASN][1000 genomes]
rs13267612	1.00[ASN][1000 genomes]
rs13271205	1.00[ASN][1000 genomes]
rs13276926	1.00[ASN][1000 genomes]
rs1994794	1.00[ASN][1000 genomes]
rs34196697	1.00[ASN][1000 genomes]
rs34289076	1.00[ASN][1000 genomes]
rs34389602	1.00[ASN][1000 genomes]
rs34463279	1.00[ASN][1000 genomes]
rs34861861	1.00[ASN][1000 genomes]
rs34962193	1.00[ASN][1000 genomes]
rs35141355	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35175236	1.00[ASN][1000 genomes]
rs35195888	1.00[ASN][1000 genomes]
rs35273564	1.00[ASN][1000 genomes]
rs35511040	1.00[ASN][1000 genomes]
rs35530445	1.00[ASN][1000 genomes]
rs35543354	1.00[ASN][1000 genomes]
rs35559164	1.00[ASN][1000 genomes]
rs35809593	1.00[ASN][1000 genomes]
rs36032317	1.00[ASN][1000 genomes]
rs36096184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55677759	1.00[ASN][1000 genomes]
rs56186143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56237137	1.00[ASN][1000 genomes]
rs57183551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58191899	1.00[ASN][1000 genomes]
rs58229316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58471124	1.00[ASN][1000 genomes]
rs58979833	1.00[ASN][1000 genomes]
rs59707579	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60835162	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61185934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61730932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61997199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471526	1.00[ASN][1000 genomes]
rs7004873	1.00[ASN][1000 genomes]
rs71532351	1.00[ASN][1000 genomes]
rs71532352	1.00[ASN][1000 genomes]
rs71532353	1.00[ASN][1000 genomes]
rs73266490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268303	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73268328	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695429	1.00[ASN][1000 genomes]
rs73695431	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695432	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695433	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695435	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695436	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695437	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695438	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73695439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814173	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7815085	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894149	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023866	chr8:96273255-96306378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96280000-96282400	Active TSS	Brain Angular Gyrus	brain
2	chr8:96280200-96282800	Active TSS	Brain Germinal Matrix	brain
3	chr8:96280400-96282400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr8:96280400-96282400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:96280400-96282400	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr8:96280400-96282400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:96280400-96282400	Active TSS	Fetal Brain Female	brain
8	chr8:96280400-96282400	Active TSS	HUVEC	blood vessel
9	chr8:96280400-96282400	Active TSS	NHLF	lung
10	chr8:96280400-96282600	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:96280400-96282600	Active TSS	Fetal Heart	heart
12	chr8:96280400-96282600	Active TSS	HMEC	breast
13	chr8:96280400-96282800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:96280400-96282800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:96280400-96282800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:96280400-96282800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:96280400-96282800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:96280400-96282800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:96280400-96282800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:96280400-96282800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:96280400-96282800	Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:96280400-96282800	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr8:96280400-96282800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:96280400-96282800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:96280400-96282800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:96280400-96282800	Active TSS	Fetal Intestine Large	intestine
27	chr8:96280400-96282800	Active TSS	Fetal Kidney	kidney
28	chr8:96280400-96282800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:96280400-96282800	Active TSS	Fetal Lung	lung
30	chr8:96280400-96282800	Active TSS	Left Ventricle	heart
31	chr8:96280400-96282800	Active TSS	Psoas Muscle	Psoas
32	chr8:96280400-96282800	Active TSS	Rectal Smooth Muscle	rectum
33	chr8:96280400-96282800	Active TSS	Right Atrium	heart
34	chr8:96280400-96282800	Active TSS	A549	lung
35	chr8:96280400-96283000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr8:96280400-96283000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:96280400-96283000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr8:96280400-96283000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr8:96280400-96283000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:96280400-96283200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:96280400-96283200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:96280400-96283200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:96280600-96282200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:96280600-96282600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:96280600-96282600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:96280600-96282600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:96280600-96282600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr8:96280600-96282600	Active TSS	Brain Substantia Nigra	brain
49	chr8:96280600-96282600	Active TSS	Lung	lung
50	chr8:96280600-96282600	Active TSS	Osteobl	bone

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