Variant report

Variant	rs883768
Chromosome Location	chr10:116300958-116300959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:116299755..116302305-chr10:116302434..116304411,2	MCF-7	breast:
2	chr10:116285513..116287019-chr10:116299308..116302056,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099204	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10749169	0.85[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs10749170	0.85[CHD][hapmap];0.90[JPT][hapmap];0.82[MEX][hapmap];0.81[ASN][1000 genomes]
rs10885572	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10885575	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10885580	0.81[ASN][1000 genomes]
rs11196779	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11196780	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196781	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11196785	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs12569428	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]
rs2145894	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247528	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2247624	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253338	0.80[TSI][hapmap]
rs2475239	0.83[CHB][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs2475240	0.87[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2475241	0.96[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2475242	0.91[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2483531	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2483564	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2483567	0.83[TSI][hapmap]
rs2483571	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483577	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2483579	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2483580	0.92[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2483584	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2483585	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483587	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483588	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483596	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483599	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2483612	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497708	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs2497710	0.91[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2497712	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2497717	0.85[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2497718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2497720	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2497721	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2497722	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2497723	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35078486	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4144582	0.85[CHD][hapmap];0.90[JPT][hapmap];0.81[MEX][hapmap];0.81[ASN][1000 genomes]
rs4514325	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4568918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56001223	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56086836	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56339171	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7094292	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs867736	1.00[CEU][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]
rs883511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs914938	0.90[LWK][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs9421179	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	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
rs883768	ABLIM1	cis	cerebellum	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116287000-116301200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr10:116287200-116301600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr10:116287200-116307200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:116287400-116303200	Weak transcription	Brain Anterior Caudate	brain
5	chr10:116287400-116303800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr10:116287400-116310600	Weak transcription	Brain Angular Gyrus	brain
7	chr10:116287400-116310600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr10:116292400-116303800	Weak transcription	Pancreas	Pancrea
9	chr10:116296600-116301400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr10:116296600-116303600	Enhancers	Fetal Thymus	thymus
11	chr10:116296800-116303400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr10:116297000-116301000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr10:116297600-116305200	Enhancers	Dnd41	blood
14	chr10:116297600-116308600	Enhancers	Primary B cells from peripheral blood	blood
15	chr10:116297800-116308600	Enhancers	Stomach Mucosa	stomach
16	chr10:116298000-116301800	Enhancers	GM12878-XiMat	blood
17	chr10:116298000-116302800	Enhancers	Right Atrium	heart
18	chr10:116298000-116308800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:116298200-116302600	Weak transcription	HUVEC	blood vessel
20	chr10:116298200-116307800	Strong transcription	Fetal Intestine Small	intestine
21	chr10:116298400-116303600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr10:116298400-116307200	Strong transcription	Liver	Liver
23	chr10:116298400-116307600	Weak transcription	Brain Substantia Nigra	brain
24	chr10:116298400-116310200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr10:116298600-116301000	Enhancers	Thymus	Thymus
26	chr10:116298600-116303200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr10:116298600-116303400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:116298600-116303400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr10:116298600-116303400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr10:116298600-116304800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr10:116298600-116311600	Weak transcription	Gastric	stomach
32	chr10:116298800-116302400	Weak transcription	Lung	lung
33	chr10:116298800-116302400	Weak transcription	Spleen	Spleen
34	chr10:116298800-116303400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr10:116298800-116310400	Weak transcription	Small Intestine	intestine
36	chr10:116298800-116310600	Weak transcription	Colonic Mucosa	Colon
37	chr10:116299400-116301000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr10:116299400-116301400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr10:116299600-116308200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:116299800-116302000	Weak transcription	Primary B cells from cord blood	blood
41	chr10:116299800-116308800	Genic enhancers	Left Ventricle	heart
42	chr10:116300000-116301200	Weak transcription	Fetal Lung	lung
43	chr10:116300000-116302000	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr10:116300000-116302000	Enhancers	Fetal Muscle Trunk	muscle
45	chr10:116300000-116303400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:116300000-116304000	Genic enhancers	Right Ventricle	heart
47	chr10:116300000-116306400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr10:116300200-116301000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr10:116300200-116301000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr10:116300200-116301200	Genic enhancers	HSMMtube	muscle

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