Variant report

Variant	rs7832755
Chromosome Location	chr8:120814566-120814567
allele	C/T
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	CEBPB	chr8:120814409-120814609	K562	blood:	n/a	chr8:120814450-120814461

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:120802211..120803960-chr8:120811769..120814577,2	MCF-7	breast:

Variant related genes	Relation type
TAF2	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10086913	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10088232	0.80[ASN][1000 genomes]
rs10092747	0.88[CHD][hapmap];0.83[JPT][hapmap];0.83[ASN][1000 genomes]
rs10095282	0.86[JPT][hapmap]
rs10096486	0.88[ASN][1000 genomes]
rs10096846	0.86[JPT][hapmap]
rs10101278	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs10103886	0.86[JPT][hapmap]
rs10107579	0.80[YRI][hapmap]
rs10108071	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10109513	0.88[ASN][1000 genomes]
rs10109951	0.86[JPT][hapmap]
rs10110061	0.81[ASN][1000 genomes]
rs10110601	0.86[JPT][hapmap]
rs10113252	0.89[ASN][1000 genomes]
rs10113562	0.82[ASN][1000 genomes]
rs10216503	0.85[YRI][hapmap]
rs10505374	0.81[JPT][hapmap]
rs1055130	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1055131	0.87[CHB][hapmap];0.82[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs1055133	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs10955941	0.83[YRI][hapmap]
rs12155707	0.90[ASN][1000 genomes]
rs12542706	0.86[JPT][hapmap]
rs12543087	0.86[JPT][hapmap]
rs12707880	0.86[JPT][hapmap]
rs13257316	0.83[YRI][hapmap]
rs13258336	0.86[ASN][1000 genomes]
rs13261032	0.86[JPT][hapmap]
rs13262434	0.86[JPT][hapmap]
rs13268676	0.87[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.88[ASN][1000 genomes]
rs13270831	0.86[JPT][hapmap]
rs13272214	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs13279398	0.82[YRI][hapmap]
rs14027	0.86[JPT][hapmap]
rs1433951	0.86[JPT][hapmap]
rs1433952	0.87[ASN][1000 genomes]
rs1509348	0.87[ASN][1000 genomes]
rs1567358	0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1567359	0.86[JPT][hapmap]
rs16893077	0.86[JPT][hapmap]
rs16893101	0.86[JPT][hapmap]
rs16893113	0.86[JPT][hapmap]
rs16893140	0.85[JPT][hapmap]
rs1828238	0.86[JPT][hapmap]
rs1976575	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs2043430	0.86[JPT][hapmap]
rs2043431	0.86[JPT][hapmap]
rs2048239	0.86[JPT][hapmap]
rs2136375	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2164022	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2289011	0.86[JPT][hapmap]
rs2326377	0.86[JPT][hapmap]
rs2326378	0.86[JPT][hapmap]
rs2634	0.86[JPT][hapmap]
rs28486048	0.82[ASN][1000 genomes]
rs28715681	0.82[ASN][1000 genomes]
rs28756749	0.82[ASN][1000 genomes]
rs35019302	0.87[ASN][1000 genomes]
rs35103910	0.81[ASN][1000 genomes]
rs35148850	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3812463	0.86[JPT][hapmap]
rs4380974	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4870931	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4870956	0.88[ASN][1000 genomes]
rs4871577	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871578	0.86[JPT][hapmap]
rs4871587	1.00[CEU][hapmap]
rs4871595	0.87[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4871597	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871629	0.87[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4871634	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4871648	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs6469846	0.87[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6469849	0.86[JPT][hapmap]
rs6469852	0.86[JPT][hapmap]
rs6469853	0.86[JPT][hapmap]
rs67905698	0.80[ASN][1000 genomes]
rs6982522	0.83[ASN][1000 genomes]
rs6983932	0.86[JPT][hapmap]
rs6987099	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6989559	0.87[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs6989791	0.87[CHB][hapmap];0.83[CHD][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs6992109	0.84[ASN][1000 genomes]
rs6996250	0.88[ASN][1000 genomes]
rs7009073	0.86[JPT][hapmap]
rs7011974	0.86[JPT][hapmap]
rs7012857	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs7015470	0.82[YRI][hapmap]
rs7017010	0.87[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs7017045	0.91[ASN][1000 genomes]
rs7017279	0.86[JPT][hapmap]
rs7813438	0.87[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.83[LWK][hapmap];0.91[ASN][1000 genomes]
rs7813651	0.86[JPT][hapmap]
rs7813680	0.83[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs7821501	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs7825803	0.86[JPT][hapmap]
rs7827482	0.87[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs7829198	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7833112	0.86[JPT][hapmap]
rs7833490	0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs7833706	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7837213	0.86[JPT][hapmap]
rs7837589	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs7839110	0.87[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs9297604	0.86[JPT][hapmap]
rs9297605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9693207	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534028	chr8:120348940-120906079	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv949368	chr8:120568034-121019872	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1021071	chr8:120589963-120968317	Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv465789	chr8:120636850-120994394	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv612111	chr8:120636850-120994394	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv427826	chr8:120642181-120953395	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers 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	26 gene(s)	inside rSNPs	diseases
8	esv3481251	chr8:120800778-120823850	Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3481253	chr8:120800792-120823847	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7832755	TAF2	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120744000-120814600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:120744400-120824400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:120781200-120829400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:120781600-120844200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr8:120791000-120833200	Weak transcription	Fetal Heart	heart
6	chr8:120800200-120821800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:120801800-120830400	Weak transcription	NHEK	skin
8	chr8:120802600-120818200	Weak transcription	Small Intestine	intestine
9	chr8:120804800-120824200	Weak transcription	Stomach Mucosa	stomach
10	chr8:120805200-120814600	Weak transcription	HepG2	liver
11	chr8:120805200-120841400	Weak transcription	Gastric	stomach
12	chr8:120805200-120843000	Weak transcription	Psoas Muscle	Psoas
13	chr8:120806600-120814800	Weak transcription	Pancreas	Pancrea
14	chr8:120806600-120836800	Weak transcription	Esophagus	oesophagus
15	chr8:120807600-120814800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:120807600-120815000	Weak transcription	Fetal Brain Male	brain
17	chr8:120808000-120830200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:120808400-120815000	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:120810600-120815400	Weak transcription	HUVEC	blood vessel
20	chr8:120812000-120821800	Strong transcription	Liver	Liver
21	chr8:120812600-120818600	Strong transcription	Left Ventricle	heart
22	chr8:120812600-120823000	Strong transcription	Adipose Nuclei	Adipose
23	chr8:120812600-120833000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:120812800-120814600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:120812800-120814800	ZNF genes & repeats	GM12878-XiMat	blood
26	chr8:120812800-120815000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:120812800-120815200	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr8:120812800-120815200	Strong transcription	HMEC	breast
29	chr8:120812800-120815400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr8:120812800-120816600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
31	chr8:120812800-120817200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:120812800-120817200	Strong transcription	Brain Hippocampus Middle	brain
33	chr8:120812800-120817600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:120812800-120817600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:120812800-120817800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:120812800-120818000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:120812800-120818400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:120812800-120818600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr8:120812800-120818600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:120812800-120818600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr8:120812800-120818600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr8:120812800-120818800	Strong transcription	Fetal Intestine Large	intestine
43	chr8:120812800-120819000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:120812800-120819400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:120812800-120819800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:120812800-120820200	Strong transcription	Fetal Stomach	stomach
47	chr8:120812800-120820800	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr8:120812800-120821400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr8:120812800-120822000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr8:120812800-120822600	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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