Variant report

Variant	rs283043
Chromosome Location	chr6:118630300-118630301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:118628896..118631734-chr6:118872419..118875351,2	K562	blood:
2	chr6:118630135..118632500-chr6:118803686..118805267,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1034247	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12154067	0.87[ASN][1000 genomes]
rs12192380	0.87[ASN][1000 genomes]
rs12194679	0.87[ASN][1000 genomes]
rs12195858	0.87[ASN][1000 genomes]
rs12201919	0.87[ASN][1000 genomes]
rs12203311	0.87[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12203844	0.87[ASN][1000 genomes]
rs13192975	0.87[ASN][1000 genomes]
rs13199882	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs13206243	0.87[ASN][1000 genomes]
rs166881	0.80[EUR][1000 genomes]
rs169465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap]
rs1889465	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs1889466	1.00[JPT][hapmap]
rs2050312	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2050313	1.00[JPT][hapmap]
rs2065707	1.00[JPT][hapmap]
rs2184365	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs2356078	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs281859	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs281862	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs281863	1.00[CHB][hapmap]
rs281865	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs281871	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs283058	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.80[LWK][hapmap]
rs283059	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs283060	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs283063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs283064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.80[EUR][1000 genomes]
rs283065	0.80[EUR][1000 genomes]
rs283090	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap]
rs283092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs283095	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2883848	1.00[JPT][hapmap]
rs34479025	0.87[ASN][1000 genomes]
rs35327831	0.87[ASN][1000 genomes]
rs383574	0.85[EUR][1000 genomes]
rs401172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs406031	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs412995	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4245500	1.00[JPT][hapmap]
rs429084	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs430538	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap]
rs444666	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.90[GIH][hapmap]
rs454842	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs456384	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs457162	1.00[JPT][hapmap]
rs458588	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs465226	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4945614	1.00[JPT][hapmap]
rs4945615	1.00[JPT][hapmap]
rs4945617	1.00[JPT][hapmap]
rs4946328	1.00[JPT][hapmap]
rs6911094	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs6917963	1.00[JPT][hapmap]
rs6921633	1.00[JPT][hapmap]
rs6921657	1.00[JPT][hapmap]
rs6923286	1.00[JPT][hapmap]
rs6933344	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs7742210	0.87[ASN][1000 genomes]
rs7745369	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7766888	0.87[ASN][1000 genomes]
rs7768436	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs928598	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9481772	1.00[JPT][hapmap]
rs9489324	1.00[JPT][hapmap]
rs9489325	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs980916	1.00[JPT][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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118625000-118631600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr6:118627000-118630600	Enhancers	Fetal Brain Male	brain
3	chr6:118627000-118631400	Enhancers	Brain Germinal Matrix	brain
4	chr6:118627000-118631400	Enhancers	Colon Smooth Muscle	Colon
5	chr6:118627800-118631600	Enhancers	Stomach Smooth Muscle	stomach
6	chr6:118627800-118638000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:118627800-118641000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:118628000-118631200	Weak transcription	Fetal Stomach	stomach
9	chr6:118628800-118630400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:118629000-118640800	Weak transcription	Fetal Brain Female	brain
11	chr6:118629200-118630600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:118629200-118630600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr6:118629200-118631400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:118629200-118635200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:118629200-118640600	Weak transcription	Ovary	ovary
16	chr6:118629200-118641000	Weak transcription	Brain Angular Gyrus	brain
17	chr6:118629400-118631000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr6:118629400-118640600	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:118629800-118630400	Enhancers	Brain Anterior Caudate	brain
20	chr6:118629800-118631400	Enhancers	Aorta	Aorta
21	chr6:118629800-118631400	Enhancers	Psoas Muscle	Psoas
22	chr6:118629800-118631600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:118629800-118632000	Enhancers	Fetal Heart	heart
24	chr6:118630000-118631400	Enhancers	Fetal Muscle Leg	muscle
25	chr6:118630200-118630400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr6:118630200-118630400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr6:118630200-118630600	Weak transcription	Brain Substantia Nigra	brain
28	chr6:118630200-118630600	Enhancers	Right Atrium	heart
29	chr6:118630200-118630800	Enhancers	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links