Variant report

Variant	rs489247
Chromosome Location	chr11:86881641-86881642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 172 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:152)

rs_ID	r²[population]
rs12280110	0.82[ASN][1000 genomes]
rs2048973	0.80[ASN][1000 genomes]
rs2445560	0.80[ASN][1000 genomes]
rs2445561	0.80[ASN][1000 genomes]
rs2451053	0.81[ASN][1000 genomes]
rs2451060	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2451061	0.80[ASN][1000 genomes]
rs2451062	0.80[ASN][1000 genomes]
rs2451063	0.80[ASN][1000 genomes]
rs2451064	0.80[ASN][1000 genomes]
rs2512338	0.80[ASN][1000 genomes]
rs2512342	0.80[ASN][1000 genomes]
rs2512343	0.80[ASN][1000 genomes]
rs2512344	0.80[ASN][1000 genomes]
rs2512350	0.82[ASN][1000 genomes]
rs2512490	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2932120	0.80[ASN][1000 genomes]
rs3018709	0.80[ASN][1000 genomes]
rs3018710	0.80[ASN][1000 genomes]
rs3103386	0.80[ASN][1000 genomes]
rs3133320	0.80[ASN][1000 genomes]
rs3133321	0.80[ASN][1000 genomes]
rs473364	0.88[AFR][1000 genomes]
rs476597	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs477944	0.83[ASN][1000 genomes]
rs479593	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs480660	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs482258	0.85[ASN][1000 genomes]
rs482339	0.83[ASN][1000 genomes]
rs483373	0.82[ASN][1000 genomes]
rs483548	0.80[ASN][1000 genomes]
rs484135	0.85[ASN][1000 genomes]
rs484403	0.84[ASN][1000 genomes]
rs486739	0.83[ASN][1000 genomes]
rs487370	0.80[ASN][1000 genomes]
rs487678	0.80[ASN][1000 genomes]
rs488227	0.80[ASN][1000 genomes]
rs492211	0.82[ASN][1000 genomes]
rs492896	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs494698	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs495238	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs495668	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs496671	0.80[ASN][1000 genomes]
rs496834	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs497592	0.82[ASN][1000 genomes]
rs499388	0.82[ASN][1000 genomes]
rs500109	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs500312	0.80[ASN][1000 genomes]
rs502144	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs502165	0.80[ASN][1000 genomes]
rs502580	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs5028348	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs503939	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs511694	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs513662	0.81[ASN][1000 genomes]
rs518489	0.80[ASN][1000 genomes]
rs520755	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs521252	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs522439	0.83[ASN][1000 genomes]
rs529564	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs531500	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs533056	0.83[ASN][1000 genomes]
rs534009	0.83[ASN][1000 genomes]
rs535515	0.82[ASN][1000 genomes]
rs537712	0.83[ASN][1000 genomes]
rs538494	0.81[ASN][1000 genomes]
rs540403	0.81[ASN][1000 genomes]
rs541089	0.83[ASN][1000 genomes]
rs541998	0.83[ASN][1000 genomes]
rs542678	0.85[ASN][1000 genomes]
rs542697	0.85[ASN][1000 genomes]
rs543687	0.85[ASN][1000 genomes]
rs546229	0.84[ASN][1000 genomes]
rs547867	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs549932	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs550988	0.80[ASN][1000 genomes]
rs552521	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs555190	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs556139	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs560624	0.84[ASN][1000 genomes]
rs561397	0.85[ASN][1000 genomes]
rs563688	0.85[ASN][1000 genomes]
rs564877	0.80[ASN][1000 genomes]
rs565869	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs566046	0.85[ASN][1000 genomes]
rs568905	0.83[ASN][1000 genomes]
rs570716	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs572433	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs575992	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs576582	0.85[ASN][1000 genomes]
rs576679	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs578533	0.81[ASN][1000 genomes]
rs580120	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs581174	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs582415	0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs583334	0.80[ASN][1000 genomes]
rs593243	0.82[ASN][1000 genomes]
rs597319	0.83[ASN][1000 genomes]
rs597344	0.80[ASN][1000 genomes]
rs597406	0.80[ASN][1000 genomes]
rs603140	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs603676	0.84[ASN][1000 genomes]
rs604035	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs604199	0.84[ASN][1000 genomes]
rs605313	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs606284	0.83[ASN][1000 genomes]
rs606299	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs607619	0.83[ASN][1000 genomes]
rs607894	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs608533	0.82[ASN][1000 genomes]
rs608870	0.83[ASN][1000 genomes]
rs608966	0.83[ASN][1000 genomes]
rs609819	0.83[ASN][1000 genomes]
rs610228	0.83[ASN][1000 genomes]
rs611523	0.83[ASN][1000 genomes]
rs611579	0.83[ASN][1000 genomes]
rs612523	0.80[ASN][1000 genomes]
rs618926	0.85[ASN][1000 genomes]
rs620303	0.83[ASN][1000 genomes]
rs624004	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs625554	0.83[ASN][1000 genomes]
rs626897	0.83[ASN][1000 genomes]
rs628447	0.80[ASN][1000 genomes]
rs628686	0.80[ASN][1000 genomes]
rs630249	0.81[ASN][1000 genomes]
rs632708	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs633211	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs634277	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs636159	0.83[ASN][1000 genomes]
rs637418	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs643175	0.81[ASN][1000 genomes]
rs644083	0.82[ASN][1000 genomes]
rs644457	0.82[ASN][1000 genomes]
rs651961	0.83[ASN][1000 genomes]
rs652171	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs653519	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs654405	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs654485	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs654569	0.83[ASN][1000 genomes]
rs655050	0.80[ASN][1000 genomes]
rs655778	0.83[ASN][1000 genomes]
rs655907	0.80[ASN][1000 genomes]
rs660246	0.80[ASN][1000 genomes]
rs664398	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs670125	0.83[ASN][1000 genomes]
rs670857	0.83[ASN][1000 genomes]
rs672194	0.82[ASN][1000 genomes]
rs687208	0.83[ASN][1000 genomes]
rs687244	0.82[ASN][1000 genomes]
rs688542	0.82[ASN][1000 genomes]
rs692857	0.80[ASN][1000 genomes]
rs7949278	0.80[ASN][1000 genomes]

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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86867000-86888600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:86867600-86884200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:86868200-86881800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:86868200-86884200	Weak transcription	HepG2	liver
5	chr11:86870400-86884600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:86873200-86884200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:86880000-86884800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:86880600-86891800	Weak transcription	Aorta	Aorta
9	chr11:86880800-86892600	Weak transcription	Liver	Liver
10	chr11:86881000-86889000	Weak transcription	Fetal Intestine Small	intestine
11	chr11:86881200-86886600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:86881400-86884600	Weak transcription	Adipose Nuclei	Adipose
13	chr11:86881600-86881800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr11:86881600-86882000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:86881600-86882000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr11:86881600-86882000	ZNF genes & repeats	Fetal Stomach	stomach
17	chr11:86881600-86882000	Enhancers	Left Ventricle	heart
18	chr11:86881600-86882000	Enhancers	Lung	lung
19	chr11:86881600-86882000	Enhancers	Pancreas	Pancrea
20	chr11:86881600-86882400	Enhancers	Right Ventricle	heart
21	chr11:86881600-86884800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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