Variant report

Variant	rs976320
Chromosome Location	chr9:95502943-95502944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:95497607..95506128-chr9:95524589..95529183,18	MCF-7	breast:
2	chr9:95501028..95504984-chr9:95544023..95547039,4	MCF-7	breast:
3	chr9:95501735..95504314-chr9:95520700..95522204,2	MCF-7	breast:
4	chr9:95501433..95503464-chr9:95508395..95511050,2	K562	blood:
5	chr9:95502006..95503566-chr9:95523305..95525520,2	K562	blood:
6	chr9:95484940..95486655-chr9:95500825..95503723,2	K562	blood:
7	chr9:95498170..95500745-chr9:95500865..95503028,2	K562	blood:
8	chr9:95502928..95505168-chr9:95526225..95528443,2	K562	blood:
9	chr9:95495321..95504616-chr9:95523710..95529272,20	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185963	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs1010823	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820997	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs10821000	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10821001	0.83[ASN][1000 genomes]
rs10821002	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10821003	0.83[ASN][1000 genomes]
rs10821004	0.83[ASN][1000 genomes]
rs10821005	0.82[ASN][1000 genomes]
rs10821007	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10821009	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10821010	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821011	0.85[ASN][1000 genomes]
rs10821012	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821014	0.85[ASN][1000 genomes]
rs10821015	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10821016	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992402	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10992403	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10992404	0.80[EUR][1000 genomes]
rs10992406	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10992413	0.92[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992414	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs10992416	0.83[ASN][1000 genomes]
rs10992417	0.83[ASN][1000 genomes]
rs10992418	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10992419	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992420	0.83[ASN][1000 genomes]
rs10992422	0.83[ASN][1000 genomes]
rs10992423	0.83[ASN][1000 genomes]
rs10992426	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10992427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10992430	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992431	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992432	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10992433	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10992434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10992436	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992437	0.85[ASN][1000 genomes]
rs10992438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10992442	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992443	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992448	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10992451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992453	0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992456	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992460	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992461	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs10992462	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10992469	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs10992472	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1125063	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1125064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11533010	0.83[ASN][1000 genomes]
rs11535540	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12236393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12236516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236747	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12236754	0.85[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs12236788	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12237216	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12238691	0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs12683839	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12683944	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12684587	0.85[ASN][1000 genomes]
rs12685080	0.84[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12685256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12685257	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685358	0.83[ASN][1000 genomes]
rs12685780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12685791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12686058	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1407944	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1552908	0.81[YRI][hapmap];0.92[AMR][1000 genomes]
rs1810696	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs1874128	0.88[AMR][1000 genomes]
rs1980705	0.87[AMR][1000 genomes]
rs2038686	0.88[AMR][1000 genomes]
rs2088055	0.82[AMR][1000 genomes]
rs2181584	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2181586	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2274413	0.88[AMR][1000 genomes]
rs2277164	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2277166	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2281888	0.87[AMR][1000 genomes]
rs2296080	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3203916	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3739605	0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs41266683	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4545157	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56111209	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56203846	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56311406	0.85[ASN][1000 genomes]
rs56339669	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57421019	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57720404	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57737182	0.85[ASN][1000 genomes]
rs58045868	0.85[AMR][1000 genomes]
rs58952648	0.82[ASN][1000 genomes]
rs60173654	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60457563	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60498616	0.84[ASN][1000 genomes]
rs66493272	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68022962	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68046436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7031163	0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs7037961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs753802	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753803	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs753804	0.85[ASN][1000 genomes]
rs7850871	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7851947	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7860628	0.83[ASN][1000 genomes]
rs7862106	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7863890	0.81[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7864889	0.89[CHB][hapmap];0.83[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7869529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7869603	0.84[ASN][1000 genomes]
rs7871537	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs7875225	0.94[JPT][hapmap]
rs7875227	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8181065	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878610	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs879812	0.81[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs912259	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs912261	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs976321	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430081	chr9:95502571-95568110	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs976320	BICD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95485600-95511600	Weak transcription	Aorta	Aorta
2	chr9:95490000-95507400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr9:95491200-95503000	Weak transcription	Fetal Kidney	kidney
4	chr9:95491400-95507600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr9:95491600-95503000	Weak transcription	Fetal Lung	lung
6	chr9:95491800-95507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:95492200-95503200	Weak transcription	HepG2	liver
8	chr9:95496800-95506600	Enhancers	Primary B cells from peripheral blood	blood
9	chr9:95497000-95503000	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr9:95497000-95503600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr9:95497000-95503600	Enhancers	Left Ventricle	heart
12	chr9:95497000-95503600	Enhancers	Ovary	ovary
13	chr9:95497000-95503600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr9:95497000-95504200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr9:95497000-95504800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:95497200-95503400	Weak transcription	A549	lung
17	chr9:95497200-95503800	Enhancers	HMEC	breast
18	chr9:95497400-95503000	Enhancers	Colon Smooth Muscle	Colon
19	chr9:95497400-95503600	Enhancers	Fetal Muscle Leg	muscle
20	chr9:95497400-95504200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr9:95497400-95506200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:95498000-95503000	Enhancers	Brain Hippocampus Middle	brain
23	chr9:95498000-95503600	Enhancers	Brain Substantia Nigra	brain
24	chr9:95498000-95504000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr9:95498200-95503000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:95498200-95503000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr9:95498600-95503600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr9:95498600-95510200	Weak transcription	Hela-S3	cervix
29	chr9:95498800-95503200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr9:95498800-95505000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr9:95498800-95507400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:95499000-95503000	Enhancers	GM12878-XiMat	blood
33	chr9:95499000-95503600	Enhancers	Primary T cells fromperipheralblood	blood
34	chr9:95499000-95503600	Enhancers	Brain Angular Gyrus	brain
35	chr9:95499000-95503600	Enhancers	HSMMtube	muscle
36	chr9:95499200-95503400	Enhancers	Small Intestine	intestine
37	chr9:95499200-95503600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:95499400-95503400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr9:95499400-95503600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:95499600-95503000	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr9:95499600-95503000	Weak transcription	K562	blood
42	chr9:95499600-95504400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr9:95499800-95503600	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr9:95500000-95504600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr9:95500200-95503000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr9:95500200-95503000	Enhancers	NHEK	skin
47	chr9:95500200-95504200	Enhancers	Brain Germinal Matrix	brain
48	chr9:95500200-95508000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr9:95500400-95503000	Enhancers	HSMM	muscle
50	chr9:95500400-95503400	Enhancers	Duodenum Mucosa	Duodenum

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