Variant report

Variant	rs11947071
Chromosome Location	chr4:119094465-119094466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 171 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10008049	0.98[ASN][1000 genomes]
rs10014096	0.97[ASN][1000 genomes]
rs10015232	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10016285	0.98[ASN][1000 genomes]
rs10020473	0.89[ASN][1000 genomes]
rs10021128	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10021781	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10023699	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10026541	0.94[ASN][1000 genomes]
rs10027013	0.85[ASN][1000 genomes]
rs10027893	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10033308	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10033412	0.96[ASN][1000 genomes]
rs10440400	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098422	0.89[ASN][1000 genomes]
rs11098424	0.93[ASN][1000 genomes]
rs11098425	0.93[ASN][1000 genomes]
rs11098427	0.98[ASN][1000 genomes]
rs11098428	0.98[ASN][1000 genomes]
rs11722962	0.89[ASN][1000 genomes]
rs11728724	0.97[ASN][1000 genomes]
rs11730541	0.94[ASN][1000 genomes]
rs11733562	0.89[ASN][1000 genomes]
rs11736688	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11937777	0.96[ASN][1000 genomes]
rs12499751	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12505156	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12508017	0.96[ASN][1000 genomes]
rs12711064	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13104129	0.89[ASN][1000 genomes]
rs13111697	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13114621	0.96[ASN][1000 genomes]
rs13114895	0.96[ASN][1000 genomes]
rs13125397	0.82[ASN][1000 genomes]
rs13126882	0.94[ASN][1000 genomes]
rs13127321	0.94[ASN][1000 genomes]
rs13134901	0.98[ASN][1000 genomes]
rs13135646	0.87[ASN][1000 genomes]
rs13139875	0.89[ASN][1000 genomes]
rs1319938	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs1994384	0.89[ASN][1000 genomes]
rs2049362	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2140475	0.95[ASN][1000 genomes]
rs2389510	0.89[ASN][1000 genomes]
rs2389511	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2389512	0.89[ASN][1000 genomes]
rs2389513	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2389514	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2389515	0.93[ASN][1000 genomes]
rs2389516	0.93[ASN][1000 genomes]
rs2389517	0.93[ASN][1000 genomes]
rs2389518	0.93[ASN][1000 genomes]
rs2389519	0.93[ASN][1000 genomes]
rs2389520	0.94[ASN][1000 genomes]
rs2389521	0.92[ASN][1000 genomes]
rs2389522	0.94[ASN][1000 genomes]
rs2389523	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2389524	0.94[ASN][1000 genomes]
rs2389525	0.96[ASN][1000 genomes]
rs2389526	0.96[ASN][1000 genomes]
rs2389527	0.96[ASN][1000 genomes]
rs2389620	0.80[ASN][1000 genomes]
rs2892787	0.89[ASN][1000 genomes]
rs2892788	0.94[ASN][1000 genomes]
rs2892789	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2892790	0.94[ASN][1000 genomes]
rs2892791	0.96[ASN][1000 genomes]
rs2892799	0.96[ASN][1000 genomes]
rs4131600	0.98[ASN][1000 genomes]
rs4240316	0.96[ASN][1000 genomes]
rs4240317	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4240318	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4280816	0.96[ASN][1000 genomes]
rs4362895	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4397073	0.98[ASN][1000 genomes]
rs4437319	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4452509	0.96[ASN][1000 genomes]
rs4546313	0.92[ASN][1000 genomes]
rs4558930	0.87[ASN][1000 genomes]
rs4566725	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4569819	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4576085	0.96[ASN][1000 genomes]
rs4616829	0.96[ASN][1000 genomes]
rs4833560	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4833561	0.98[ASN][1000 genomes]
rs4833563	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4833566	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833567	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4834656	0.89[ASN][1000 genomes]
rs4834657	0.96[ASN][1000 genomes]
rs4834658	0.85[ASN][1000 genomes]
rs4834660	0.98[ASN][1000 genomes]
rs4834661	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4834664	0.98[ASN][1000 genomes]
rs4834665	0.98[ASN][1000 genomes]
rs4834666	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs581739	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs582448	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs586073	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs586224	0.91[ASN][1000 genomes]
rs593966	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs597881	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs607961	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs608228	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs610222	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs613083	0.91[ASN][1000 genomes]
rs613443	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs615165	0.84[ASN][1000 genomes]
rs615837	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs617140	0.90[ASN][1000 genomes]
rs62328865	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62328871	0.90[ASN][1000 genomes]
rs625546	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs627249	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs641962	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs644797	0.86[ASN][1000 genomes]
rs6534082	0.94[ASN][1000 genomes]
rs662086	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs674514	0.89[ASN][1000 genomes]
rs678177	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6820061	0.96[ASN][1000 genomes]
rs6820108	0.93[ASN][1000 genomes]
rs6823125	0.98[ASN][1000 genomes]
rs6823295	0.98[ASN][1000 genomes]
rs6825105	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6828552	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6837896	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6842393	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6848037	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6848598	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6851494	0.97[ASN][1000 genomes]
rs6857041	0.98[ASN][1000 genomes]
rs6857232	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs705838	0.85[ASN][1000 genomes]
rs705841	0.83[ASN][1000 genomes]
rs7435948	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7439663	0.96[ASN][1000 genomes]
rs7655439	0.94[ASN][1000 genomes]
rs7655519	0.94[ASN][1000 genomes]
rs7671232	0.96[ASN][1000 genomes]
rs7671359	0.96[ASN][1000 genomes]
rs7671434	0.94[ASN][1000 genomes]
rs7671515	0.96[ASN][1000 genomes]
rs7671562	0.96[ASN][1000 genomes]
rs7677274	0.89[ASN][1000 genomes]
rs7679658	0.96[ASN][1000 genomes]
rs7681830	0.93[ASN][1000 genomes]
rs7685325	0.98[ASN][1000 genomes]
rs7686670	0.91[ASN][1000 genomes]
rs7695706	0.96[ASN][1000 genomes]
rs7699653	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs788647	0.85[ASN][1000 genomes]
rs788650	0.85[ASN][1000 genomes]
rs788651	0.85[ASN][1000 genomes]
rs788655	0.85[ASN][1000 genomes]
rs788656	0.82[ASN][1000 genomes]
rs788658	0.83[ASN][1000 genomes]
rs788661	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs788662	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs788668	0.90[ASN][1000 genomes]
rs9307452	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9637622	0.96[ASN][1000 genomes]
rs9637623	0.96[ASN][1000 genomes]
rs9790637	0.96[ASN][1000 genomes]
rs9995675	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv1008236	chr4:118989467-119154024	ZNF genes & repeats Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999152	chr4:119001143-119138322	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr4:119092800-119095200	Weak transcription	Thymus	Thymus
2	chr4:119093000-119096000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:119093400-119095200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:119093800-119095000	Enhancers	Primary T cells from cord blood	blood
5	chr4:119094000-119095000	Enhancers	Osteobl	bone
6	chr4:119094000-119096400	Enhancers	NHDF-Ad	bronchial
7	chr4:119094000-119097400	Enhancers	NHLF	lung
8	chr4:119094000-119098400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:119094400-119094600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:119094400-119094600	Enhancers	Fetal Thymus	thymus
11	chr4:119094400-119094600	Enhancers	NH-A	brain
12	chr4:119094400-119095000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:119094400-119095000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:119094400-119095000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:119094400-119095000	Enhancers	Fetal Lung	lung
16	chr4:119094400-119095200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:119094400-119095200	Flanking Active TSS	Dnd41	blood
18	chr4:119094400-119096200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr4:119094400-119097200	Enhancers	HMEC	breast
20	chr4:119094400-119097600	Enhancers	Primary hematopoietic stem cells	blood
21	chr4:119094400-119097800	Enhancers	Primary hematopoietic stem cells short term culture	blood

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