Variant report

Variant	rs10245767
Chromosome Location	chr7:87493681-87493682
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	POLR2A	chr7:87490959-87494072	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87493589..87495813-chr7:87498469..87500039,2	MCF-7	breast:
2	chr7:87490284..87494525-chr7:87503945..87507315,5	MCF-7	breast:

Variant related genes	Relation type
SLC25A40	TF binding region
ENSG00000075303	Chromatin interaction
ENSG00000006634	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:139)

rs_ID	r²[population]
rs1015415	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs10215700	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10215973	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216040	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10225955	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10226830	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10226849	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10227951	0.91[EUR][1000 genomes]
rs10230718	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10231033	0.86[ASN][1000 genomes]
rs10231094	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs10232449	0.93[ASN][1000 genomes]
rs10232457	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10235112	0.81[LWK][hapmap];0.80[YRI][hapmap]
rs10235854	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10237097	0.86[CEU][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap];1.00[EUR][1000 genomes]
rs10237201	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10238564	0.87[EUR][1000 genomes]
rs10239908	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10239922	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244734	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10245617	0.93[ASN][1000 genomes]
rs10246786	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10247258	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10248345	0.88[ASN][1000 genomes]
rs10249603	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10252226	0.93[ASN][1000 genomes]
rs10252990	1.00[CEU][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs10253106	1.00[CEU][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10253864	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10255051	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10256319	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs10258021	0.93[ASN][1000 genomes]
rs10259182	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10260007	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs10261685	0.86[JPT][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs10263074	1.00[JPT][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs10264856	0.87[EUR][1000 genomes]
rs10264991	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.93[ASN][1000 genomes]
rs10266417	1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10268868	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269158	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275831	0.86[ASN][1000 genomes]
rs10276409	0.93[ASN][1000 genomes]
rs10276499	0.87[EUR][1000 genomes]
rs10276819	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10278483	0.94[CHD][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.86[ASN][1000 genomes]
rs10280397	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs10280686	0.86[ASN][1000 genomes]
rs10280904	0.93[ASN][1000 genomes]
rs10281645	0.93[ASN][1000 genomes]
rs10486997	0.93[ASN][1000 genomes]
rs10487000	1.00[JPT][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10952899	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs11972683	0.93[ASN][1000 genomes]
rs11982729	0.86[ASW][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12532279	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532358	1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12532941	0.91[EUR][1000 genomes]
rs12533477	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535013	0.95[ASN][1000 genomes]
rs12537294	0.93[ASN][1000 genomes]
rs12538627	1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12539395	0.87[EUR][1000 genomes]
rs12540032	0.91[EUR][1000 genomes]
rs12540931	1.00[CEU][hapmap];0.86[JPT][hapmap]
rs12669619	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13437761	0.93[ASN][1000 genomes]
rs13438341	0.93[ASN][1000 genomes]
rs13438651	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17149840	0.81[ASN][1000 genomes]
rs17149864	1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17149924	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17149946	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17149963	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17150006	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17150008	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17150009	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17169578	0.93[ASN][1000 genomes]
rs2041049	0.94[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.95[ASN][1000 genomes]
rs2073985	0.91[EUR][1000 genomes]
rs2106522	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2157926	0.87[EUR][1000 genomes]
rs2157929	1.00[CEU][hapmap]
rs2188523	0.93[ASN][1000 genomes]
rs2188527	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2188530	1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap]
rs2188828	0.91[EUR][1000 genomes]
rs2214101	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2214106	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2285646	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2285649	0.91[EUR][1000 genomes]
rs2373574	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28375568	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28379741	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28437979	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs28449219	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28449354	0.89[EUR][1000 genomes]
rs28470575	0.93[ASN][1000 genomes]
rs28535601	0.88[ASN][1000 genomes]
rs28535947	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28537604	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28546778	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572147	0.91[ASN][1000 genomes]
rs28624877	0.93[ASN][1000 genomes]
rs28627774	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642834	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28645115	0.91[EUR][1000 genomes]
rs28666506	0.98[ASN][1000 genomes]
rs28742881	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.98[ASN][1000 genomes]
rs28774398	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28831998	0.87[EUR][1000 genomes]
rs28879532	0.93[ASN][1000 genomes]
rs28890472	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4148727	0.86[ASN][1000 genomes]
rs4148729	0.86[ASN][1000 genomes]
rs58638862	1.00[EUR][1000 genomes]
rs59058733	0.95[EUR][1000 genomes]
rs6465117	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6465118	0.86[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap]
rs6948061	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952943	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955897	0.94[CHD][hapmap];0.88[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.82[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6957599	0.94[CHD][hapmap];0.86[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap]
rs6972098	0.91[EUR][1000 genomes]
rs73706914	0.86[EUR][1000 genomes]
rs73706916	0.91[EUR][1000 genomes]
rs73706922	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73706924	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73706950	1.00[EUR][1000 genomes]
rs7790722	0.87[EUR][1000 genomes]
rs7794263	1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[YRI][hapmap];0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7796247	0.86[JPT][hapmap];0.80[YRI][hapmap]
rs7798074	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7801337	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9655954	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9655955	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs976602	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs992422	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87460600-87498000	Weak transcription	Fetal Heart	heart
2	chr7:87467800-87494800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:87470200-87499600	Weak transcription	NHEK	skin
4	chr7:87471000-87495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:87471200-87495600	Weak transcription	Right Ventricle	heart
6	chr7:87471200-87499800	Weak transcription	NHLF	lung
7	chr7:87473200-87495800	Weak transcription	Lung	lung
8	chr7:87475000-87494800	Weak transcription	Pancreas	Pancrea
9	chr7:87475000-87495800	Weak transcription	Aorta	Aorta
10	chr7:87475000-87495800	Weak transcription	Spleen	Spleen
11	chr7:87475000-87500000	Weak transcription	Gastric	stomach
12	chr7:87475200-87495200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:87476000-87495200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:87480200-87494800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:87481000-87503800	Weak transcription	NH-A	brain
16	chr7:87481200-87504000	Weak transcription	Osteobl	bone
17	chr7:87482200-87503200	Weak transcription	HMEC	breast
18	chr7:87482800-87494800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:87483200-87494000	Weak transcription	A549	lung
20	chr7:87483200-87495600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:87485600-87495600	Weak transcription	Small Intestine	intestine
22	chr7:87486000-87504400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:87486400-87504800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:87486800-87499600	Weak transcription	HSMM	muscle
25	chr7:87487000-87495400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr7:87487000-87501800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:87487400-87503800	Weak transcription	HUVEC	blood vessel
28	chr7:87487600-87494400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:87487600-87495200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:87487600-87495600	Weak transcription	Brain Anterior Caudate	brain
31	chr7:87487600-87497000	Weak transcription	Fetal Kidney	kidney
32	chr7:87487600-87497000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr7:87487800-87494800	Weak transcription	Left Ventricle	heart
34	chr7:87487800-87495200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:87487800-87499800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:87488000-87494800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr7:87488000-87494800	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr7:87488000-87495200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:87488000-87495200	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:87488000-87495400	Weak transcription	Psoas Muscle	Psoas
41	chr7:87488000-87495600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr7:87488000-87495600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:87488000-87499800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:87488000-87499800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:87488000-87500200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:87488000-87503400	Weak transcription	Colon Smooth Muscle	Colon
47	chr7:87488200-87494600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr7:87488200-87495000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:87488200-87495200	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr7:87488200-87495200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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