Variant report

Variant	rs580891
Chromosome Location	chr11:65954681-65954682
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65948158..65951834-chr11:65952872..65956194,5	K562	blood:
2	chr11:65948163..65952826-chr11:65952922..65956273,5	K562	blood:
3	chr11:65954321..65956732-chr11:65958143..65960901,2	MCF-7	breast:
4	chr11:65950174..65952396-chr11:65952934..65955921,3	MCF-7	breast:

Extended variants
information (count: 137 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1055615	0.93[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs10750777	0.93[EUR][1000 genomes]
rs10750778	0.97[EUR][1000 genomes]
rs10750780	0.83[EUR][1000 genomes]
rs10750781	0.83[EUR][1000 genomes]
rs10791838	0.93[CEU][hapmap]
rs10791840	0.93[CEU][hapmap]
rs10791849	0.97[EUR][1000 genomes]
rs10791850	0.98[EUR][1000 genomes]
rs10791851	0.97[EUR][1000 genomes]
rs10791852	0.97[EUR][1000 genomes]
rs10791853	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791854	0.96[EUR][1000 genomes]
rs10791855	0.96[EUR][1000 genomes]
rs10791856	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10791858	0.95[EUR][1000 genomes]
rs10791859	0.95[EUR][1000 genomes]
rs10791860	0.87[EUR][1000 genomes]
rs10791861	0.89[CEU][hapmap];0.85[EUR][1000 genomes]
rs10791862	0.83[EUR][1000 genomes]
rs10791863	0.86[CEU][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs10896075	0.93[CEU][hapmap]
rs10896077	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs10896080	0.93[EUR][1000 genomes]
rs10896081	0.93[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs10896085	0.95[EUR][1000 genomes]
rs10896087	0.95[EUR][1000 genomes]
rs10896089	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs10896090	0.98[EUR][1000 genomes]
rs10896091	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs10896092	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896093	0.93[EUR][1000 genomes]
rs10896094	0.97[EUR][1000 genomes]
rs10896095	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896097	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10896098	0.96[EUR][1000 genomes]
rs10896099	0.97[EUR][1000 genomes]
rs10896100	0.87[EUR][1000 genomes]
rs10896105	0.85[EUR][1000 genomes]
rs11227403	0.93[EUR][1000 genomes]
rs11227409	0.92[EUR][1000 genomes]
rs11227410	0.93[CEU][hapmap];0.93[EUR][1000 genomes]
rs11227411	0.90[CEU][hapmap];0.95[EUR][1000 genomes]
rs11227413	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs11227414	0.95[EUR][1000 genomes]
rs11227415	0.93[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs11227420	0.97[EUR][1000 genomes]
rs11227426	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11227433	0.85[EUR][1000 genomes]
rs11227439	0.86[EUR][1000 genomes]
rs11227447	0.86[CEU][hapmap]
rs11227448	0.85[GIH][hapmap];0.80[TSI][hapmap]
rs11607393	0.83[CEU][hapmap];0.93[EUR][1000 genomes]
rs12049852	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12226649	0.93[EUR][1000 genomes]
rs12576969	0.93[CEU][hapmap]
rs12797158	0.97[EUR][1000 genomes]
rs12797586	0.97[EUR][1000 genomes]
rs12800670	0.96[EUR][1000 genomes]
rs1717671	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1862005	0.93[EUR][1000 genomes]
rs1987678	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2017969	0.80[EUR][1000 genomes]
rs2155030	0.86[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs2155031	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs2155198	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs2155201	0.86[CEU][hapmap];0.83[EUR][1000 genomes]
rs2177053	0.97[EUR][1000 genomes]
rs2177054	0.98[EUR][1000 genomes]
rs2236651	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs2236652	0.86[CEU][hapmap];0.89[GIH][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs2270448	0.82[GIH][hapmap]
rs2276036	0.86[CEU][hapmap];0.80[TSI][hapmap];0.84[EUR][1000 genomes]
rs2282568	0.85[CEU][hapmap]
rs2293121	0.93[CEU][hapmap];0.93[GIH][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs2298466	0.82[GIH][hapmap]
rs2298468	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs2430979	0.93[CEU][hapmap]
rs2452682	0.93[CEU][hapmap]
rs2889313	0.98[EUR][1000 genomes]
rs3088328	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3132851	0.86[CEU][hapmap];0.89[MEX][hapmap]
rs3814738	0.86[CEU][hapmap]
rs3814744	0.93[CEU][hapmap]
rs3825067	0.93[CEU][hapmap];0.82[GIH][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs3862386	0.86[CEU][hapmap];0.96[EUR][1000 genomes]
rs3953856	0.98[EUR][1000 genomes]
rs4013917	0.95[EUR][1000 genomes]
rs4393319	0.85[EUR][1000 genomes]
rs4483592	0.84[EUR][1000 genomes]
rs4604890	0.91[EUR][1000 genomes]
rs471484	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs472518	0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs476551	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs485857	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs488320	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs489337	0.84[JPT][hapmap]
rs512421	0.96[GIH][hapmap]
rs524281	0.86[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs527897	0.86[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs535395	0.94[ASW][hapmap];0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs549187	0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs565198	0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs571434	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6591203	0.93[CEU][hapmap]
rs6591207	0.93[CEU][hapmap];0.89[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs6591208	0.93[CEU][hapmap];0.89[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs7115081	0.94[EUR][1000 genomes]
rs7120326	0.93[CEU][hapmap];0.85[GIH][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs7124165	0.97[EUR][1000 genomes]
rs71270566	0.80[EUR][1000 genomes]
rs7127808	0.86[EUR][1000 genomes]
rs730787	0.93[CEU][hapmap]
rs7925123	0.86[CEU][hapmap];0.84[EUR][1000 genomes]
rs7926402	0.95[EUR][1000 genomes]
rs7929909	0.97[EUR][1000 genomes]
rs7931477	0.92[EUR][1000 genomes]
rs7931544	0.95[EUR][1000 genomes]
rs7935336	0.93[EUR][1000 genomes]
rs7937281	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7941431	0.97[EUR][1000 genomes]
rs7941469	0.93[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7942894	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7943911	0.97[EUR][1000 genomes]
rs7946447	0.86[EUR][1000 genomes]
rs7946917	0.80[CEU][hapmap];0.93[GIH][hapmap];0.94[TSI][hapmap];0.97[EUR][1000 genomes]
rs7951079	0.88[EUR][1000 genomes]
rs918299	0.95[EUR][1000 genomes]
rs9645684	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs9736673	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv1804701	chr11:65922589-65957003	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1813498	chr11:65922589-65957003	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv1806665	chr11:65933975-65957003	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1809732	chr11:65934549-65956577	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65906000-65960200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:65920400-65954800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:65925400-65955000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:65925800-65955000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:65927200-65958400	Weak transcription	Gastric	stomach
6	chr11:65928800-65957000	Weak transcription	Left Ventricle	heart
7	chr11:65929400-65960200	Weak transcription	HSMM	muscle
8	chr11:65929600-65977800	Weak transcription	HSMMtube	muscle
9	chr11:65930000-65960200	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:65930000-65960800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:65936400-65956800	Weak transcription	Fetal Intestine Small	intestine
12	chr11:65937000-65956000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:65937400-65958200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:65938400-65978000	Weak transcription	Aorta	Aorta
15	chr11:65938600-65960800	Weak transcription	Dnd41	blood
16	chr11:65939400-65960200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr11:65939800-65956400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:65940000-65958200	Weak transcription	Lung	lung
19	chr11:65940000-65978000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr11:65940200-65956200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:65940200-65960400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:65940200-65960400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr11:65940400-65978000	Weak transcription	Esophagus	oesophagus
24	chr11:65942000-65955000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:65943200-65959600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr11:65944400-65977800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:65944600-65955800	Weak transcription	NHEK	skin
28	chr11:65944600-65963600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr11:65945000-65955800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr11:65947800-65961000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:65948400-65955600	Weak transcription	HUVEC	blood vessel
32	chr11:65949600-65955800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:65949600-65955800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:65949600-65956000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:65949600-65956400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:65949800-65960400	Weak transcription	Liver	Liver
37	chr11:65949800-65977800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:65950000-65959800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:65950200-65978400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:65950600-65960400	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:65950800-65960200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr11:65951200-65956400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:65951200-65956800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:65951200-65959800	Weak transcription	Right Ventricle	heart
45	chr11:65951200-65960800	Weak transcription	Fetal Muscle Leg	muscle
46	chr11:65951200-65960800	Weak transcription	Ovary	ovary
47	chr11:65951200-65962800	Weak transcription	Brain Substantia Nigra	brain
48	chr11:65951400-65955800	Weak transcription	K562	blood
49	chr11:65951400-65959600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr11:65951400-65960000	Weak transcription	Spleen	Spleen

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