Variant report

Variant	rs399844
Chromosome Location	chr6:118613435-118613436
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11758375	0.82[CHB][hapmap]
rs11968293	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs12212582	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[ASN][1000 genomes]
rs1572226	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs1690662	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1874081	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs188181	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs190756	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs1923282	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs2065021	0.81[ASN][1000 genomes]
rs281861	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs281864	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs281867	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs281868	0.94[CHB][hapmap];0.87[CHD][hapmap];0.87[MEX][hapmap]
rs283040	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs283042	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.95[ASN][1000 genomes]
rs283044	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs283045	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs283046	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap]
rs283047	0.82[ASN][1000 genomes]
rs283049	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs283050	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs283051	0.82[ASN][1000 genomes]
rs283057	0.95[ASN][1000 genomes]
rs283061	0.83[ASN][1000 genomes]
rs283062	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs283066	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs283067	0.82[ASN][1000 genomes]
rs283077	0.94[CHB][hapmap]
rs283080	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs283081	0.92[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs283082	0.92[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.87[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs283084	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs283085	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs283086	0.92[CEU][hapmap];0.94[CHB][hapmap];0.86[EUR][1000 genomes]
rs283087	0.86[EUR][1000 genomes]
rs283088	0.92[CEU][hapmap];0.94[CHB][hapmap];0.84[EUR][1000 genomes]
rs283091	0.96[CEU][hapmap];0.94[CHB][hapmap];0.87[CHD][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs369383	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs372237	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.87[MEX][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs376875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs387266	0.85[ASN][1000 genomes]
rs387945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs397445	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs413876	0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs414091	1.00[CEU][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs419592	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs422268	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs422833	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4294041	0.81[ASN][1000 genomes]
rs431115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs445099	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs445566	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs447193	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs450093	0.87[JPT][hapmap];0.84[ASN][1000 genomes]
rs4946333	0.94[CHB][hapmap];0.87[CHD][hapmap];0.87[MEX][hapmap]
rs4946336	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6912208	0.88[CHB][hapmap]
rs6927800	0.82[CHB][hapmap]
rs731695	0.82[CHB][hapmap]
rs7452622	0.81[CHB][hapmap]
rs7749263	0.82[CHB][hapmap]
rs89107	0.94[CHB][hapmap]
rs927348	0.82[CHB][hapmap]
rs9401060	0.94[CHB][hapmap];0.86[CHD][hapmap];0.87[MEX][hapmap]
rs9489327	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1020463	chr6:118593028-119146363	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118607600-118614000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr6:118607600-118616000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:118607600-118617000	Weak transcription	Fetal Muscle Leg	muscle
4	chr6:118609000-118616400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr6:118609800-118616600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:118610000-118614800	Weak transcription	Aorta	Aorta
7	chr6:118610200-118617200	Weak transcription	Left Ventricle	heart
8	chr6:118612400-118614600	Enhancers	Fetal Heart	heart
9	chr6:118612800-118618000	Enhancers	Colon Smooth Muscle	Colon
10	chr6:118613200-118614000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:118613200-118616800	Enhancers	Fetal Stomach	stomach
12	chr6:118613400-118613600	Enhancers	Right Atrium	heart
13	chr6:118613400-118614000	Enhancers	Brain Germinal Matrix	brain
14	chr6:118613400-118614200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:118613400-118614200	Enhancers	Stomach Smooth Muscle	stomach
16	chr6:118613400-118615600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:118613400-118618400	Enhancers	Rectal Smooth Muscle	rectum

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