Variant report

Variant	rs447193
Chromosome Location	chr6:118607662-118607663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11758375	0.88[CHB][hapmap];0.85[ASN][1000 genomes]
rs11968293	0.82[CHB][hapmap]
rs12212582	0.94[CHB][hapmap]
rs1572226	0.81[CHB][hapmap]
rs1690662	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17079898	0.82[ASN][1000 genomes]
rs176014	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs1874081	0.84[EUR][1000 genomes]
rs1923282	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs281861	0.96[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs281864	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs281867	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs281868	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs283040	0.94[CHB][hapmap]
rs283042	0.94[CHB][hapmap]
rs283044	0.94[CHB][hapmap]
rs283045	0.94[CHB][hapmap]
rs283046	0.94[CHB][hapmap]
rs283049	0.94[CHB][hapmap]
rs283050	0.94[CHB][hapmap]
rs283062	0.94[CHB][hapmap]
rs283077	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs283080	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283082	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs283083	0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs283084	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283085	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283087	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs283088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs283091	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs372237	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs376875	0.92[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs387945	0.95[CEU][hapmap];0.93[CHB][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3951016	0.90[ASN][1000 genomes]
rs397445	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs399844	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs414091	0.91[CEU][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs419592	0.94[CHB][hapmap]
rs422268	0.81[ASN][1000 genomes]
rs422833	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs427027	0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs431115	0.92[CEU][hapmap];0.94[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs445566	0.94[CHB][hapmap];0.81[ASN][1000 genomes]
rs4946333	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4946336	0.94[CHB][hapmap]
rs55697000	0.83[ASN][1000 genomes]
rs6569009	0.81[ASN][1000 genomes]
rs6912208	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6927800	0.88[CHB][hapmap];0.86[ASN][1000 genomes]
rs72965660	0.83[ASN][1000 genomes]
rs731695	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs7452622	0.87[CHB][hapmap];0.82[ASN][1000 genomes]
rs7749263	0.88[CHB][hapmap];0.82[ASN][1000 genomes]
rs89107	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.95[ASN][1000 genomes]
rs927348	0.88[CHB][hapmap];0.81[ASN][1000 genomes]
rs9401060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9489327	0.88[CHB][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]

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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118603400-118610000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:118605800-118608400	Enhancers	Stomach Smooth Muscle	stomach
3	chr6:118606200-118609800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:118606600-118609400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:118606600-118609400	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:118606600-118613400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:118606800-118608000	Weak transcription	Left Ventricle	heart
8	chr6:118606800-118609000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:118607200-118608400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr6:118607200-118608600	Enhancers	Colon Smooth Muscle	Colon
11	chr6:118607200-118609000	Flanking Active TSS	Fetal Heart	heart
12	chr6:118607200-118609800	Weak transcription	NHLF	lung
13	chr6:118607400-118607800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr6:118607600-118607800	Flanking Active TSS	Aorta	Aorta
15	chr6:118607600-118609000	Active TSS	Right Ventricle	heart
16	chr6:118607600-118614000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:118607600-118616000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:118607600-118617000	Weak transcription	Fetal Muscle Leg	muscle

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