Variant report

Variant	rs605313
Chromosome Location	chr11:86885081-86885082
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs12280110	0.82[CHB][hapmap]
rs12576009	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs17212655	0.94[CEU][hapmap];0.83[CHB][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2001411	0.81[CHB][hapmap]
rs2048973	0.83[CHB][hapmap]
rs2445562	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2451052	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2451053	0.83[CHB][hapmap]
rs2451060	0.94[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs2512344	0.83[CHB][hapmap];0.80[JPT][hapmap]
rs2512350	0.83[CHB][hapmap]
rs2512358	0.81[CHB][hapmap]
rs2512396	0.81[CHB][hapmap]
rs2512485	0.81[CHB][hapmap]
rs2512490	0.83[CHB][hapmap]
rs2513228	0.82[CHB][hapmap]
rs301573	0.81[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[MKK][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs301577	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs301578	0.81[EUR][1000 genomes]
rs301581	0.81[EUR][1000 genomes]
rs301585	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs301587	0.85[EUR][1000 genomes]
rs301588	0.94[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs301590	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs301591	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3103383	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs35493055	0.89[ASN][1000 genomes]
rs471471	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs473364	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs476943	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs481278	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs482339	0.86[CHB][hapmap]
rs483373	0.83[CHB][hapmap]
rs489247	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs491895	0.83[CHB][hapmap]
rs492211	0.82[CHB][hapmap]
rs492605	0.81[EUR][1000 genomes]
rs4943971	0.82[CHB][hapmap]
rs494698	0.83[CHB][hapmap]
rs495668	0.83[CHB][hapmap]
rs496671	0.83[CHB][hapmap]
rs496834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs500109	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs502144	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs502580	0.83[CHB][hapmap]
rs5028348	0.81[CHB][hapmap]
rs503939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs503952	0.81[ASW][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs520755	0.82[CHB][hapmap]
rs521252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs529564	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs534965	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs538494	0.93[JPT][hapmap]
rs541293	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs541998	0.83[CHB][hapmap]
rs546229	0.83[CHB][hapmap]
rs547867	0.83[CHB][hapmap]
rs549932	0.82[CHB][hapmap]
rs550988	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs552253	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs552521	0.83[CHB][hapmap]
rs556139	0.83[CHB][hapmap]
rs556160	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs563133	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs564877	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs566046	0.83[CHB][hapmap]
rs575992	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs576528	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs576582	0.86[CHB][hapmap]
rs576679	0.83[CHB][hapmap]
rs580120	0.83[CHB][hapmap]
rs581174	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582415	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs583334	0.82[CHB][hapmap]
rs596912	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs597319	0.82[CHB][hapmap]
rs597344	0.83[CHB][hapmap]
rs597406	0.83[CHB][hapmap]
rs603140	0.83[CHB][hapmap]
rs604035	0.83[CHB][hapmap]
rs604960	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs606284	0.86[CHB][hapmap]
rs606299	0.83[CHB][hapmap]
rs608870	0.86[CHB][hapmap]
rs610228	0.82[CHB][hapmap]
rs611523	0.83[CHB][hapmap]
rs611538	0.82[CHB][hapmap];0.87[JPT][hapmap]
rs613715	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs618926	0.82[CHB][hapmap]
rs619565	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs622921	0.81[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.91[MKK][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs625554	0.83[CHB][hapmap]
rs628447	0.83[CHB][hapmap]
rs633211	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs634277	0.83[CHB][hapmap]
rs634343	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs637418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs651945	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs655050	0.83[CHB][hapmap]
rs655907	0.83[CHB][hapmap]
rs660246	0.83[CHB][hapmap]
rs664398	0.82[CHB][hapmap]
rs672224	0.81[ASW][hapmap];1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[MKK][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs676384	0.93[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs687244	0.83[CHB][hapmap]
rs687651	0.83[CHB][hapmap]
rs692857	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs7930231	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7949665	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv468777	chr11:86794856-86985581	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv555707	chr11:86794856-86985581	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv898060	chr11:86822077-86912633	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv420	chr11:86845328-86890111	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv898061	chr11:86850483-86944982	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv468778	chr11:86850483-86974576	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv555708	chr11:86850483-86974576	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv898062	chr11:86864277-86902079	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv898063	chr11:86864277-86944982	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv898064	chr11:86864277-87013438	Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	esv2829956	chr11:86872504-87025059	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86867000-86888600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:86880600-86891800	Weak transcription	Aorta	Aorta
3	chr11:86880800-86892600	Weak transcription	Liver	Liver
4	chr11:86881000-86889000	Weak transcription	Fetal Intestine Small	intestine
5	chr11:86881200-86886600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:86881800-86891000	Weak transcription	Thymus	Thymus
7	chr11:86882000-86928000	Weak transcription	Left Ventricle	heart
8	chr11:86883200-86889000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:86883600-86885200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:86884200-86885200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:86884200-86885200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:86884200-86885200	Enhancers	Brain Hippocampus Middle	brain
13	chr11:86884200-86885200	Enhancers	Stomach Mucosa	stomach
14	chr11:86884200-86885200	Enhancers	Dnd41	blood
15	chr11:86884200-86885200	Enhancers	NHDF-Ad	bronchial
16	chr11:86884200-86885200	Enhancers	NHEK	skin
17	chr11:86884200-86885200	Enhancers	NHLF	lung
18	chr11:86884200-86885400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:86884200-86885400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:86884200-86885400	Enhancers	HMEC	breast
21	chr11:86884200-86885400	Enhancers	HSMMtube	muscle
22	chr11:86884200-86885400	Enhancers	Osteobl	bone
23	chr11:86884200-86885600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:86884200-86885800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:86884200-86885800	Enhancers	NH-A	brain
26	chr11:86884200-86886200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:86884200-86886400	Enhancers	Colon Smooth Muscle	Colon
28	chr11:86884200-86886400	Enhancers	Rectal Smooth Muscle	rectum
29	chr11:86884200-86886600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:86884200-86886600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr11:86884200-86886800	Enhancers	HepG2	liver
32	chr11:86884200-86888000	Enhancers	Hela-S3	cervix
33	chr11:86884400-86885200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:86884400-86885200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr11:86884400-86885200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:86884400-86885800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:86884400-86886800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:86884400-86891400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:86884600-86885200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:86884600-86885200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr11:86884600-86885400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:86884600-86886400	Enhancers	Adipose Nuclei	Adipose
43	chr11:86884600-86896600	Weak transcription	Fetal Kidney	kidney
44	chr11:86884600-86899200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr11:86884800-86885200	Flanking Active TSS	A549	lung
46	chr11:86884800-86885800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:86884800-86886000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr11:86884800-86886400	Enhancers	HUVEC	blood vessel
49	chr11:86884800-86901200	Weak transcription	K562	blood
50	chr11:86885000-86885400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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