Variant report

Variant	rs4641029
Chromosome Location	chr8:96085317-96085318
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

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	MAX	chr8:96085002-96085934	GM12878	blood:	n/a	chr8:96085731-96085741
3	CTCF	chr8:96085286-96085802	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:96085249-96085733	GM12878	blood:	n/a	n/a
5	SMC3	chr8:96085234-96085601	GM12878	blood:	n/a	n/a
6	E2F6	chr8:96084981-96085527	H1-hESC	embryonic stem cell:	n/a	n/a
7	ELF1	chr8:96085146-96085985	GM12878	blood:	n/a	n/a
8	MXI1	chr8:96085307-96085407	GM12878	blood:	n/a	n/a
9	STAT1	chr8:96085306-96085471	GM12878	blood:	n/a	n/a
10	ATF2	chr8:96085182-96086003	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:96085229-96085799	GM12878	blood:	n/a	n/a
12	RUNX3	chr8:96085212-96086118	GM12878	blood:	n/a	n/a
13	RUNX3	chr8:96085178-96085983	GM12878	blood:	n/a	n/a
14	STAT5A	chr8:96085062-96085951	GM12878	blood:	n/a	chr8:96085751-96085763 chr8:96085733-96085745
15	E2F6	chr8:96084856-96085989	H1-hESC	embryonic stem cell:	n/a	n/a
16	MTA3	chr8:96084461-96086139	GM12878	blood:	n/a	n/a
17	POLR2A	chr8:96085168-96085854	GM12892	blood:	n/a	n/a
18	MEF2A	chr8:96085244-96086015	GM12878	blood:	n/a	n/a
19	NFIC	chr8:96085173-96087285	GM12878	blood:	n/a	n/a
20	MAX	chr8:96084951-96085467	H1-hESC	embryonic stem cell:	n/a	n/a
21	PML	chr8:96085098-96086028	GM12878	blood:	n/a	n/a
22	EBF1	chr8:96085313-96086097	GM12878	blood:	n/a	chr8:96085691-96085701 chr8:96085692-96085701 chr8:96085692-96085701 chr8:96085690-96085703 chr8:96085690-96085701

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:96085270-96085320	SK-N-SH_RA	brain:	n/a
2	chr8:96085270-96085320	HRPEpiC	eye:	n/a
3	chr8:96085270-96085320	HepG2	liver:	n/a
4	chr8:96085270-96085320	AG09319	gingival:	n/a
5	chr8:96085270-96085320	HCPEpiC	choroid plexus:	n/a
6	chr8:96085270-96085320	MCF10A-Er-Src	breast:	n/a
7	chr8:96085270-96085320	CMK	blood:	n/a
8	chr8:96085270-96085320	AG04449	skin:	fetal
9	chr8:96085270-96085320	HMEC	breast:	n/a
10	chr8:96085270-96085320	RPTEC	kidney:	n/a
11	chr8:96085270-96085320	K562	blood:	n/a
12	chr8:96085270-96085320	ECC-1	luminal epithelium:	n/a
13	chr8:96085270-96085320	Hela-S3	cervix:	n/a
14	chr8:96085270-96085320	AG09309	skin:	n/a
15	chr8:96085270-96085320	HCT-116	colon:	n/a
16	chr8:96085270-96085320	ProgFib	skin:	n/a
17	chr8:96085270-96085320	GM12878	blood:	n/a
18	chr8:96085270-96085320	A549	lung:	n/a
19	chr8:96085270-96085320	IMR90	lung:	fetal
20	chr8:96085270-96085320	HCM	heart:	n/a
21	chr8:96085270-96085320	U87	brain:	n/a
22	chr8:96085270-96085320	HRE	kidney:	n/a
23	chr8:96085270-96085320	NHDF-neo	bronchial:	n/a
24	chr8:96085270-96085320	T-47D	breast:	n/a
25	chr8:96085270-96085320	MCF-7	breast:	n/a
26	chr8:96085270-96085320	GM19239	blood:	n/a
27	chr8:96085270-96085320	ovcar-3	ovarian:	n/a
28	chr8:96085270-96085320	NHBE	bronchial:	n/a
29	chr8:96085270-96085320	HCF	heart:	n/a
30	chr8:96085270-96085320	HEEpiC	esophagus:	n/a
31	chr8:96085270-96085320	AG04450	lung:	fetal
32	chr8:96085270-96085320	HL-60	blood:	n/a
33	chr8:96085270-96085320	Hepatocyte	liver:	n/a
34	chr8:96085270-96085320	NB4	blood:	n/a
35	chr8:96085270-96085320	HUVEC	blood vessel:	n/a
36	chr8:96085270-96085320	PANC-1	pancreas:	n/a
37	chr8:96085270-96085320	GM06990	blood:	n/a
38	chr8:96085270-96085320	SK-N-MC	brain:	n/a
39	chr8:96085270-96085320	Caco-2	colon:	n/a
40	chr8:96085270-96085320	Jurkat	blood:	n/a
41	chr8:96085270-96085320	NT2-D1	testis:	n/a
42	chr8:96085270-96085320	SAEC	small airway:	n/a
43	chr8:96085270-96085320	PFSK-1	brain:	n/a
44	chr8:96085270-96085320	BJ	skin:	n/a
45	chr8:96085270-96085320	BE2_C	brain:	n/a
46	chr8:96085270-96085320	HAEpiC	amniotic membrane:	n/a
47	chr8:96085270-96085320	HPAEpiC	pulmonary alveolar:	n/a
48	chr8:96085270-96085320	AG10803	skin:	n/a
49	chr8:96085270-96085320	SKMC	muscle:	n/a
50	chr8:96085270-96085320	AoSMC	blood vessel:	n/a

(count:8 , 50 per page) page: 1

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:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53INP1-1	chr8:96085157-96085410	ENSG00000245080

No data

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11778995	0.83[ASN][1000 genomes]
rs11785698	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs1878736	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1996500	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2044899	0.85[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2119588	0.85[CEU][hapmap];0.88[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs2165496	0.81[EUR][1000 genomes]
rs2165497	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs2599701	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2599702	0.85[CEU][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2599703	0.85[CEU][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2599704	1.00[CEU][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2599705	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2678825	0.85[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2678826	0.85[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2678839	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2678840	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28416970	0.82[ASN][1000 genomes]
rs2923814	0.85[CEU][hapmap];0.88[GIH][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2945565	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2945566	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34824997	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4379417	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs6471509	0.86[CEU][hapmap];0.81[EUR][1000 genomes]
rs6471510	0.85[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs6471513	0.85[CEU][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs6471514	0.85[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs6471515	0.81[EUR][1000 genomes]
rs6980872	0.83[ASN][1000 genomes]
rs6982086	0.80[JPT][hapmap];0.83[ASN][1000 genomes]
rs7002090	0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7011768	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs7011919	0.91[CEU][hapmap];0.81[EUR][1000 genomes]
rs966459	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs9720421	0.86[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:84 , 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	chr8:96082400-96085400	Weak transcription	HMEC	breast
5	chr8:96083000-96085400	Enhancers	Placenta	Placenta
6	chr8:96084000-96086600	Weak transcription	K562	blood
7	chr8:96084200-96086000	Weak transcription	HepG2	liver
8	chr8:96084400-96087400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr8:96084600-96085800	Weak transcription	Liver	Liver
10	chr8:96084600-96086000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr8:96084800-96085400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr8:96084800-96085600	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:96084800-96085800	Enhancers	Spleen	Spleen
14	chr8:96084800-96086000	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr8:96084800-96086000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr8:96084800-96086200	Flanking Active TSS	GM12878-XiMat	blood
17	chr8:96084800-96088400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:96085000-96085400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr8:96085000-96085400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr8:96085000-96085400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:96085000-96085400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:96085000-96085800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:96085000-96086000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:96085000-96086000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:96085000-96086000	Flanking Active TSS	Thymus	Thymus
26	chr8:96085000-96086200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:96085000-96087200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr8:96085200-96085400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
29	chr8:96085200-96085400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
30	chr8:96085200-96085400	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr8:96085200-96085400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:96085200-96085400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
33	chr8:96085200-96085400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
34	chr8:96085200-96085400	Bivalent/Poised TSS	Psoas Muscle	Psoas
35	chr8:96085200-96085400	Active TSS	Rectal Smooth Muscle	rectum
36	chr8:96085200-96085400	Flanking Active TSS	Right Atrium	heart
37	chr8:96085200-96085400	Bivalent/Poised TSS	HUVEC	blood vessel
38	chr8:96085200-96085400	Bivalent/Poised TSS	NHEK	skin
39	chr8:96085200-96085600	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:96085200-96085600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
41	chr8:96085200-96085600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
42	chr8:96085200-96085600	Flanking Active TSS	Colonic Mucosa	Colon
43	chr8:96085200-96085600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
44	chr8:96085200-96085600	Flanking Active TSS	Esophagus	oesophagus
45	chr8:96085200-96085600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
46	chr8:96085200-96085600	Flanking Active TSS	Gastric	stomach
47	chr8:96085200-96085600	Flanking Active TSS	Right Ventricle	heart
48	chr8:96085200-96085600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
49	chr8:96085200-96085600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
50	chr8:96085200-96085800	Active TSS	Primary T cells from cord blood	blood

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