Variant report

Variant	rs11187980
Chromosome Location	chr10:96254106-96254107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96249261..96251407-chr10:96253951..96256386,2	K562	blood:

Extended variants
information (count: 116 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10786168	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[EUR][1000 genomes]
rs10786169	1.00[CEU][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1079504	0.85[EUR][1000 genomes]
rs10882452	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10882454	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10882460	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10882463	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10882469	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10882470	0.84[LWK][hapmap];0.86[MEX][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10882471	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882473	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10882474	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs10882477	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11187937	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11187938	0.81[EUR][1000 genomes]
rs11187939	1.00[CEU][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11187944	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11187948	0.95[LWK][hapmap];0.86[MEX][hapmap];0.82[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11187952	1.00[CEU][hapmap];0.95[GIH][hapmap];0.80[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11187958	0.85[EUR][1000 genomes]
rs11187966	0.85[EUR][1000 genomes]
rs11187972	0.95[CEU][hapmap];0.81[CHB][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11187973	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11187985	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11187996	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11188009	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11188019	0.83[ASW][hapmap];1.00[CEU][hapmap];0.81[GIH][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11188040	0.81[MEX][hapmap];0.81[TSI][hapmap]
rs11527881	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11592354	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11638	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.85[ASN][1000 genomes]
rs12218213	0.81[MEX][hapmap];0.81[TSI][hapmap]
rs12218216	0.81[MEX][hapmap];0.81[TSI][hapmap]
rs12219906	0.81[MEX][hapmap];0.83[TSI][hapmap]
rs12220588	0.81[MEX][hapmap];0.83[TSI][hapmap]
rs12221475	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12572040	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12573638	0.82[EUR][1000 genomes]
rs12762574	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1326839	0.92[CEU][hapmap];0.89[GIH][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs1359263	0.81[MEX][hapmap];0.83[TSI][hapmap]
rs1749352	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1749355	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1749356	0.81[EUR][1000 genomes]
rs1854035	0.83[EUR][1000 genomes]
rs1886272	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1889485	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1889486	0.83[ASW][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.90[MKK][hapmap];0.84[TSI][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1969815	0.85[CEU][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap]
rs1977290	0.86[AFR][1000 genomes]
rs1980741	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2012670	0.81[AFR][1000 genomes]
rs2095380	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2244241	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2265362	0.82[EUR][1000 genomes]
rs2265364	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2274096	0.86[EUR][1000 genomes]
rs2274417	0.81[MEX][hapmap];0.83[TSI][hapmap]
rs2281791	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs2860760	0.84[EUR][1000 genomes]
rs2860821	0.81[MEX][hapmap];0.83[TSI][hapmap]
rs2901764	0.83[EUR][1000 genomes]
rs2901765	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3740358	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs3758522	0.81[EUR][1000 genomes]
rs3758523	0.84[EUR][1000 genomes]
rs3781262	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs4316436	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4351744	1.00[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4611135	0.82[EUR][1000 genomes]
rs4917505	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4918333	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4918402	1.00[CEU][hapmap];0.89[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.86[EUR][1000 genomes]
rs4918404	0.86[EUR][1000 genomes]
rs4918409	0.85[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs4918412	0.80[EUR][1000 genomes]
rs4918419	0.85[CEU][hapmap]
rs517784	1.00[CEU][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs522111	0.81[EUR][1000 genomes]
rs541704	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs542540	0.81[EUR][1000 genomes]
rs555782	0.80[EUR][1000 genomes]
rs556055	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56020662	0.85[EUR][1000 genomes]
rs576517	0.80[EUR][1000 genomes]
rs581165	0.84[EUR][1000 genomes]
rs6583943	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6583944	0.85[CEU][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap]
rs6583946	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs692872	1.00[CEU][hapmap];0.95[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs701885	1.00[CEU][hapmap];0.91[GIH][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap]
rs7073639	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7078236	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7078811	0.83[ASW][hapmap];1.00[CEU][hapmap];0.91[GIH][hapmap];0.86[LWK][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7079934	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7083898	1.00[CEU][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7086462	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7087472	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7089094	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7393251	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7895305	0.82[EUR][1000 genomes]
rs7898330	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7906843	0.83[ASW][hapmap];0.96[CEU][hapmap];0.91[GIH][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7913343	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7921721	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.98[GIH][hapmap];0.95[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8181426	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs912466	0.83[ASW][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.98[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9420641	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs945123	0.86[EUR][1000 genomes]
rs955694	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9633675	0.83[EUR][1000 genomes]
rs9633699	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1053747	chr10:96211618-96366396	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96211600-96292200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:96215600-96255200	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr10:96219800-96283400	Weak transcription	Lung	lung
4	chr10:96221800-96255600	Weak transcription	Ovary	ovary
5	chr10:96222800-96255800	Weak transcription	HepG2	liver
6	chr10:96223200-96293600	Weak transcription	NHDF-Ad	bronchial
7	chr10:96227800-96255600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:96235000-96255200	Weak transcription	Osteobl	bone
9	chr10:96236000-96254400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr10:96236400-96268600	Weak transcription	HSMMtube	muscle
11	chr10:96237600-96258800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr10:96237600-96271400	Weak transcription	Placenta	Placenta
13	chr10:96238200-96258400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:96238200-96273400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr10:96240200-96271000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr10:96244000-96255800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr10:96244000-96262200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:96244000-96282600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr10:96244400-96258400	Weak transcription	Fetal Stomach	stomach
20	chr10:96244400-96283600	Weak transcription	Pancreas	Pancrea
21	chr10:96244400-96304600	Weak transcription	Aorta	Aorta
22	chr10:96245200-96267000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr10:96246800-96261400	Weak transcription	Fetal Intestine Large	intestine
24	chr10:96247400-96267400	Weak transcription	Fetal Muscle Leg	muscle
25	chr10:96248000-96273800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr10:96248800-96256000	Weak transcription	Liver	Liver
27	chr10:96249000-96255600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:96249000-96267800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr10:96249200-96255600	Weak transcription	Psoas Muscle	Psoas
30	chr10:96249200-96267400	Weak transcription	Left Ventricle	heart
31	chr10:96249200-96286200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr10:96249400-96268600	Weak transcription	Colon Smooth Muscle	Colon
33	chr10:96249400-96288600	Weak transcription	Gastric	stomach
34	chr10:96249600-96267800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:96250400-96281000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:96250600-96256000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr10:96250600-96261000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr10:96250600-96271400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr10:96250800-96258800	Weak transcription	Fetal Lung	lung
40	chr10:96250800-96268600	Weak transcription	Brain Hippocampus Middle	brain
41	chr10:96250800-96281000	Weak transcription	Brain Angular Gyrus	brain
42	chr10:96250800-96294000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr10:96250800-96297400	Weak transcription	Small Intestine	intestine
44	chr10:96251000-96258000	Weak transcription	Adipose Nuclei	Adipose
45	chr10:96251000-96271600	Weak transcription	Brain Substantia Nigra	brain
46	chr10:96251200-96267200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:96251600-96254400	Strong transcription	HSMM	muscle
48	chr10:96251600-96260000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr10:96253200-96255800	Strong transcription	Fetal Intestine Small	intestine
50	chr10:96253600-96255200	Weak transcription	GM12878-XiMat	blood

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