Variant report

Variant	rs13261505
Chromosome Location	chr8:96085479-96085480
allele	C/G
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	EBF1	chr8:96085223-96085940	GM12878	blood:	n/a	chr8:96085691-96085701 chr8:96085692-96085701 chr8:96085692-96085701 chr8:96085690-96085703 chr8:96085690-96085701
2	TCF12	chr8:96085478-96085951	H1-hESC	embryonic stem cell:	n/a	chr8:96085767-96085774
3	PAX5	chr8:96085450-96086003	GM12878	blood:	n/a	chr8:96085737-96085755 chr8:96085735-96085754 chr8:96085634-96085643
4	ZEB1	chr8:96085462-96086028	GM12878	blood:	n/a	n/a
5	FOXM1	chr8:96085347-96085993	GM12878	blood:	n/a	n/a
6	EBF1	chr8:96085375-96085932	GM12878	blood:	n/a	chr8:96085691-96085701 chr8:96085692-96085701 chr8:96085692-96085701 chr8:96085690-96085703 chr8:96085690-96085701
7	MAX	chr8:96085002-96085934	GM12878	blood:	n/a	chr8:96085731-96085741
8	PML	chr8:96085478-96085729	GM12878	blood:	n/a	n/a
9	CTCF	chr8:96085286-96085802	GM12878	blood:	n/a	n/a
10	POLR2A	chr8:96085249-96085733	GM12878	blood:	n/a	n/a
11	SMC3	chr8:96085234-96085601	GM12878	blood:	n/a	n/a
12	E2F6	chr8:96084981-96085527	H1-hESC	embryonic stem cell:	n/a	n/a
13	BHLHE40	chr8:96085430-96085924	GM12878	blood:	n/a	chr8:96085637-96085653
14	RCOR1	chr8:96085388-96085871	GM12878	blood:	n/a	n/a
15	CHD1	chr8:96085419-96085651	GM12878	blood:	n/a	n/a
16	ELF1	chr8:96085146-96085985	GM12878	blood:	n/a	n/a
17	EP300	chr8:96085475-96085798	GM12878	blood:	n/a	chr8:96085638-96085654
18	BCL3	chr8:96085477-96085869	GM12878	blood:	n/a	chr8:96085645-96085658
19	ATF2	chr8:96085182-96086003	GM12878	blood:	n/a	n/a
20	POLR2A	chr8:96085229-96085799	GM12878	blood:	n/a	n/a
21	POLR2A	chr8:96085346-96085954	GM12878	blood:	n/a	n/a
22	MAZ	chr8:96085410-96086034	GM12878	blood:	n/a	chr8:96085731-96085741
23	RUNX3	chr8:96085212-96086118	GM12878	blood:	n/a	n/a
24	RUNX3	chr8:96085178-96085983	GM12878	blood:	n/a	n/a
25	FOXM1	chr8:96085412-96085872	GM12878	blood:	n/a	n/a
26	STAT5A	chr8:96085062-96085951	GM12878	blood:	n/a	chr8:96085751-96085763 chr8:96085733-96085745
27	E2F6	chr8:96084856-96085989	H1-hESC	embryonic stem cell:	n/a	n/a
28	MTA3	chr8:96084461-96086139	GM12878	blood:	n/a	n/a
29	RAD21	chr8:96085472-96085612	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr8:96085168-96085854	GM12892	blood:	n/a	n/a
31	NFIC	chr8:96085451-96085994	GM12878	blood:	n/a	n/a
32	BCLAF1	chr8:96085352-96085881	GM12878	blood:	n/a	chr8:96085645-96085658
33	POLR2A	chr8:96085417-96085955	GM12892	blood:	n/a	n/a
34	MEF2A	chr8:96085244-96086015	GM12878	blood:	n/a	n/a
35	NFIC	chr8:96085173-96087285	GM12878	blood:	n/a	n/a
36	PML	chr8:96085098-96086028	GM12878	blood:	n/a	n/a
37	CTCF	chr8:96085420-96085570	GM12873	blood:	n/a	n/a
38	NFATC1	chr8:96085439-96086056	GM12878	blood:	n/a	n/a
39	YY1	chr8:96085473-96086040	GM12878	blood:	n/a	chr8:96085730-96085739 chr8:96085643-96085654
40	EBF1	chr8:96085313-96086097	GM12878	blood:	n/a	chr8:96085691-96085701 chr8:96085692-96085701 chr8:96085692-96085701 chr8:96085690-96085703 chr8:96085690-96085701
41	ZNF143	chr8:96085444-96085888	GM12878	blood:	n/a	n/a
42	TBL1XR1	chr8:96085380-96085873	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:96085448-96085498	AG09319	gingival:	n/a
2	chr8:96085448-96085498	HL-60	blood:	n/a
3	chr8:96085448-96085498	LNCaP	prostate:	n/a
4	chr8:96085448-96085498	HRPEpiC	eye:	n/a
5	chr8:96085448-96085498	A549	lung:	n/a
6	chr8:96085448-96085498	SK-N-SH	brain:	n/a
7	chr8:96085448-96085498	AG09309	skin:	n/a
8	chr8:96085448-96085498	HCPEpiC	choroid plexus:	n/a
9	chr8:96085448-96085498	Jurkat	blood:	n/a
10	chr8:96085448-96085498	U87	brain:	n/a
11	chr8:96085448-96085498	GM12892	blood:	n/a
12	chr8:96085448-96085498	GM12878	blood:	n/a
13	chr8:96085448-96085498	BE2_C	brain:	n/a
14	chr8:96085448-96085498	HCM	heart:	n/a
15	chr8:96085448-96085498	SK-N-SH_RA	brain:	n/a
16	chr8:96085448-96085498	HCT-116	colon:	n/a
17	chr8:96085448-96085498	IMR90	lung:	fetal
18	chr8:96085448-96085498	GM06990	blood:	n/a
19	chr8:96085448-96085498	HAEpiC	amniotic membrane:	n/a
20	chr8:96085448-96085498	HEEpiC	esophagus:	n/a
21	chr8:96085448-96085498	HepG2	liver:	n/a
22	chr8:96085448-96085498	NT2-D1	testis:	n/a
23	chr8:96085448-96085498	HCF	heart:	n/a
24	chr8:96085448-96085498	SK-N-MC	brain:	n/a
25	chr8:96085448-96085498	PrEC	prostate:	n/a
26	chr8:96085448-96085498	AG04450	lung:	fetal
27	chr8:96085448-96085498	MCF-7	breast:	n/a
28	chr8:96085448-96085498	ProgFib	skin:	n/a
29	chr8:96085448-96085498	HIPEpiC	eye:	n/a
30	chr8:96085448-96085498	ECC-1	luminal epithelium:	n/a
31	chr8:96085448-96085498	GM19239	blood:	n/a
32	chr8:96085448-96085498	H1-hESC	embryonic stem cell:	embryo
33	chr8:96085448-96085498	NB4	blood:	n/a
34	chr8:96085448-96085498	AG04449	skin:	fetal
35	chr8:96085448-96085498	PFSK-1	brain:	n/a
36	chr8:96085448-96085498	AG10803	skin:	n/a
37	chr8:96085448-96085498	HUVEC	blood vessel:	n/a
38	chr8:96085448-96085498	HNPCEpiC	eye:	n/a
39	chr8:96085448-96085498	ovcar-3	ovarian:	n/a
40	chr8:96085448-96085498	HMEC	breast:	n/a
41	chr8:96085448-96085498	NHDF-neo	bronchial:	n/a
42	chr8:96085448-96085498	HRE	kidney:	n/a
43	chr8:96085448-96085498	T-47D	breast:	n/a
44	chr8:96085448-96085498	HEK293	kidney:	embryo
45	chr8:96085448-96085498	NHBE	bronchial:	n/a
46	chr8:96085448-96085498	AoSMC	blood vessel:	n/a
47	chr8:96085448-96085498	K562	blood:	n/a
48	chr8:96085448-96085498	HRCEpiC	kidney:	n/a
49	chr8:96085448-96085498	GM12891	blood:	n/a
50	chr8:96085448-96085498	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
2	chr8:96085236..96087766-chr9:140513238..140514849,2	MCF-7	breast:
3	chr8:96033508..96040236-chr8:96084539..96089897,8	MCF-7	breast:
4	chr8:96037199..96039610-chr8:96084206..96086584,2	K562	blood:
5	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
6	chr8:96081666..96087784-chr8:96143058..96146914,11	MCF-7	breast:
7	chr8:96077629..96090166-chr8:96105796..96116852,50	MCF-7	breast:
8	chr8:95907632..95909697-chr8:96084733..96086751,2	MCF-7	breast:

Variant related genes	Relation type
MIR3150A	TF binding region
MIR3150A	CpG island
ENSG00000175895	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000181090	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000203993	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10087402	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10089123	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11779506	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs12544717	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13279040	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs35518242	0.84[EUR][1000 genomes]
rs6471511	0.84[ASN][1000 genomes]
rs71504377	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71504378	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71532343	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv891205	chr8:96062601-96115476	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
5	esv1808302	chr8:96079879-96085479	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96081400-96086600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:96081600-96087800	Weak transcription	A549	lung
4	chr8:96084000-96086600	Weak transcription	K562	blood
5	chr8:96084200-96086000	Weak transcription	HepG2	liver
6	chr8:96084400-96087400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr8:96084600-96085800	Weak transcription	Liver	Liver
8	chr8:96084600-96086000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr8:96084800-96085600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:96084800-96085800	Enhancers	Spleen	Spleen
11	chr8:96084800-96086000	Flanking Active TSS	Primary B cells from peripheral blood	blood
12	chr8:96084800-96086000	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr8:96084800-96086200	Flanking Active TSS	GM12878-XiMat	blood
14	chr8:96084800-96088400	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:96085000-96085800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:96085000-96086000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr8:96085000-96086000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:96085000-96086000	Flanking Active TSS	Thymus	Thymus
19	chr8:96085000-96086200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:96085000-96087200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr8:96085200-96085600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:96085200-96085600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
23	chr8:96085200-96085600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr8:96085200-96085600	Flanking Active TSS	Colonic Mucosa	Colon
25	chr8:96085200-96085600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
26	chr8:96085200-96085600	Flanking Active TSS	Esophagus	oesophagus
27	chr8:96085200-96085600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr8:96085200-96085600	Flanking Active TSS	Gastric	stomach
29	chr8:96085200-96085600	Flanking Active TSS	Right Ventricle	heart
30	chr8:96085200-96085600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
31	chr8:96085200-96085600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
32	chr8:96085200-96085800	Active TSS	Primary T cells from cord blood	blood
33	chr8:96085200-96085800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr8:96085200-96085800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:96085200-96085800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr8:96085200-96085800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:96085200-96085800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:96085200-96085800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr8:96085200-96085800	Bivalent/Poised TSS	Fetal Brain Female	brain
40	chr8:96085200-96085800	Bivalent Enhancer	Fetal Lung	lung
41	chr8:96085200-96085800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr8:96085200-96085800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
43	chr8:96085200-96085800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
44	chr8:96085200-96085800	Flanking Bivalent TSS/Enh	Left Ventricle	heart
45	chr8:96085200-96085800	Flanking Active TSS	Pancreas	Pancrea
46	chr8:96085200-96085800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
47	chr8:96085200-96085800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
48	chr8:96085200-96085800	Bivalent/Poised TSS	NHDF-Ad	bronchial
49	chr8:96085200-96085800	Bivalent/Poised TSS	Osteobl	bone
50	chr8:96085200-96086000	Active TSS	H1 Cell Line	embryonic stem cell

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