Variant report

Variant	rs10957167
Chromosome Location	chr8:61815886-61815887
allele	A/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	RXRA	chr8:61815674-61815913	HepG2	liver:	n/a	chr8:61815796-61815809 chr8:61815796-61815809 chr8:61815796-61815809
2	ATF2	chr8:61815624-61817391	GM12878	blood:	n/a	n/a
3	CEBPB	chr8:61815763-61817408	GM12878	blood:	n/a	chr8:61816914-61816925 chr8:61816913-61816924
4	CREB1	chr8:61815558-61817462	GM12878	blood:	n/a	chr8:61816088-61816101
5	CHD2	chr8:61815805-61817258	GM12878	blood:	n/a	n/a
6	FOXM1	chr8:61815587-61817330	GM12878	blood:	n/a	n/a
7	RCOR1	chr8:61815859-61817300	GM12878	blood:	n/a	n/a
8	RELA	chr8:61815672-61817295	GM12878	blood:	n/a	n/a
9	TBL1XR1	chr8:61815662-61817282	GM12878	blood:	n/a	n/a
10	FOXM1	chr8:61815862-61817318	GM12878	blood:	n/a	n/a
11	FOXA1	chr8:61815536-61816072	HepG2	liver:	n/a	n/a
12	RELA	chr8:61815642-61817205	GM19099	blood:	n/a	n/a
13	STAT5A	chr8:61815886-61817213	GM12878	blood:	n/a	chr8:61816517-61816525 chr8:61816916-61816924 chr8:61816347-61816355 chr8:61816232-61816244
14	EP300	chr8:61815835-61817305	GM12878	blood:	n/a	chr8:61816911-61816925
15	GATA3	chr8:61815599-61815978	T-47D	breast:	n/a	n/a
16	JUND	chr8:61815851-61817358	GM12878	blood:	n/a	n/a
17	EP300	chr8:61815605-61817307	GM12878	blood:	n/a	chr8:61816911-61816925
18	FOXA1	chr8:61815615-61815962	HepG2	liver:	n/a	n/a
19	GATA1	chr8:61815488-61817403	K562	blood:	n/a	chr8:61816190-61816206 chr8:61816685-61816692 chr8:61816685-61816692 chr8:61816685-61816692 chr8:61816377-61816387 chr8:61816685-61816695 chr8:61816683-61816693
20	GATA3	chr8:61815645-61815999	T-47D	breast:	n/a	n/a
21	SP1	chr8:61815564-61815992	HepG2	liver:	n/a	n/a
22	FOXA1	chr8:61815511-61816101	HepG2	liver:	n/a	n/a
23	CREB1	chr8:61815839-61817382	GM12878	blood:	n/a	chr8:61816088-61816101
24	NFIC	chr8:61815636-61817311	GM12878	blood:	n/a	n/a
25	MEF2C	chr8:61815865-61817316	GM12878	blood:	n/a	chr8:61815955-61815976 chr8:61816847-61816868 chr8:61815962-61815971 chr8:61815958-61815975 chr8:61815961-61815972 chr8:61816847-61816868 chr8:61815959-61815974 chr8:61816848-61816863 chr8:61815959-61815975 chr8:61815955-61815976 chr8:61816047-61816063 chr8:61816379-61816387
26	FOXA1	chr8:61815703-61815906	T-47D	breast:	n/a	n/a
27	TBP	chr8:61815767-61817321	GM12878	blood:	n/a	n/a
28	RELA	chr8:61815580-61817305	GM18505	blood:	n/a	n/a
29	MAZ	chr8:61815837-61817102	GM12878	blood:	n/a	n/a
30	MTA3	chr8:61815459-61817321	GM12878	blood:	n/a	n/a
31	HNF4A	chr8:61815652-61815940	HepG2	liver:	n/a	chr8:61815794-61815809 chr8:61815793-61815811 chr8:61815794-61815809
32	ATF2	chr8:61815744-61817395	GM12878	blood:	n/a	n/a
33	NFATC1	chr8:61815867-61817367	GM12878	blood:	n/a	n/a
34	MEF2A	chr8:61815779-61816491	GM12878	blood:	n/a	chr8:61815955-61815976 chr8:61815962-61815971 chr8:61815958-61815975 chr8:61815961-61815972 chr8:61815959-61815974 chr8:61815959-61815975 chr8:61815955-61815976 chr8:61816047-61816063 chr8:61816379-61816387
35	FOXA1	chr8:61815574-61815890	T-47D	breast:	n/a	n/a
36	SMC3	chr8:61815690-61817247	GM12878	blood:	n/a	n/a
37	RAD21	chr8:61815827-61817200	GM12878	blood:	n/a	n/a
38	EP300	chr8:61815562-61815927	HepG2	liver:	n/a	n/a
39	GATA3	chr8:61815536-61815999	MCF-7	breast:	n/a	n/a
40	FOXA2	chr8:61815587-61815976	HepG2	liver:	n/a	n/a
41	MEF2A	chr8:61815832-61817287	GM12878	blood:	n/a	chr8:61815955-61815976 chr8:61816847-61816868 chr8:61815962-61815971 chr8:61815958-61815975 chr8:61815961-61815972 chr8:61816847-61816868 chr8:61815959-61815974 chr8:61816848-61816863 chr8:61815959-61815975 chr8:61815955-61815976 chr8:61816047-61816063 chr8:61816379-61816387
42	FOXA1	chr8:61815510-61815923	HepG2	liver:	n/a	n/a
43	RELA	chr8:61815822-61817166	GM12891	blood:	n/a	n/a
44	PML	chr8:61815836-61817396	GM12878	blood:	n/a	n/a
45	STAT3	chr8:61815746-61817303	GM12878	blood:	n/a	chr8:61816517-61816525 chr8:61816916-61816924 chr8:61816347-61816355 chr8:61816232-61816244
46	CUX1	chr8:61815750-61817301	GM12878	blood:	n/a	n/a
47	NFIC	chr8:61815437-61817426	GM12878	blood:	n/a	n/a
48	HDAC2	chr8:61815649-61815899	HepG2	liver:	n/a	chr8:61815728-61815742
49	RUNX3	chr8:61815494-61817479	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61814318..61816214-chr8:61820305..61823088,2	K562	blood:
2	chr8:61814901..61816723-chr8:61822451..61825300,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271377	TF binding region
ENSG00000254777	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11784736	0.80[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap]
rs28415696	0.85[ASN][1000 genomes]
rs35283678	0.87[ASN][1000 genomes]
rs4370573	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009473	0.87[ASN][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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61811800-61817000	Enhancers	Fetal Thymus	thymus
2	chr8:61812000-61817200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr8:61812000-61817600	Enhancers	Primary T cells from cord blood	blood
4	chr8:61812200-61821200	Weak transcription	Right Atrium	heart
5	chr8:61813000-61816000	Weak transcription	Primary B cells from cord blood	blood
6	chr8:61813000-61816000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:61813800-61817200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr8:61814200-61816000	Enhancers	HUVEC	blood vessel
9	chr8:61814200-61816200	Enhancers	Stomach Mucosa	stomach
10	chr8:61814200-61817400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr8:61814400-61816200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr8:61814400-61816400	Enhancers	Fetal Intestine Large	intestine
13	chr8:61814600-61816200	Enhancers	HepG2	liver
14	chr8:61814600-61817400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:61814800-61816200	Enhancers	Fetal Intestine Small	intestine
16	chr8:61814800-61816600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:61814800-61817200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:61814800-61817400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:61815000-61816800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr8:61815000-61817000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr8:61815000-61817200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:61815200-61816800	Enhancers	Small Intestine	intestine
23	chr8:61815200-61817200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr8:61815200-61817200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr8:61815400-61816000	Enhancers	Duodenum Mucosa	Duodenum
26	chr8:61815400-61817200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr8:61815600-61816000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr8:61815600-61816200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr8:61815600-61816200	Active TSS	Colonic Mucosa	Colon
30	chr8:61815600-61816400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:61815600-61817000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:61815600-61817000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr8:61815600-61817200	Enhancers	Primary B cells from peripheral blood	blood
34	chr8:61815600-61817200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr8:61815600-61817400	Flanking Active TSS	GM12878-XiMat	blood
36	chr8:61815600-61818000	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:61815800-61816000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr8:61815800-61816200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:61815800-61816600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:61815800-61817000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr8:61815800-61817200	Enhancers	K562	blood

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