Variant report

Variant	rs608971
Chromosome Location	chr6:33702079-33702080
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	chr6:33701443..33703598-chr6:33706736..33709323,2	K562	blood:
2	chr6:33700581..33702116-chr6:33711630..33713944,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10672	1.00[JPT][hapmap]
rs10947436	1.00[JPT][hapmap]
rs1536501	1.00[JPT][hapmap]
rs1998949	1.00[JPT][hapmap]
rs2182659	1.00[JPT][hapmap]
rs2395401	1.00[JPT][hapmap]
rs2967	1.00[JPT][hapmap]
rs4711350	1.00[JPT][hapmap]
rs498114	1.00[JPT][hapmap]
rs530614	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs549652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs597386	1.00[JPT][hapmap]
rs597723	0.89[ASN][1000 genomes]
rs602399	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs623813	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs652049	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs654682	1.00[JPT][hapmap]
rs658087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs680608	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs684119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs688209	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6913517	1.00[JPT][hapmap]
rs6915136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs751727	1.00[JPT][hapmap]
rs764753	1.00[JPT][hapmap]
rs791904	0.81[ASN][1000 genomes]
rs943463	1.00[JPT][hapmap]
rs943464	1.00[JPT][hapmap]
rs943472	1.00[JPT][hapmap]
rs9469542	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	nsv830638	chr6:33551202-33711346	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
2	nsv830639	chr6:33592022-33711346	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
3	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33680000-33705000	Weak transcription	Brain Angular Gyrus	brain
2	chr6:33686400-33710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr6:33690800-33708200	Weak transcription	Gastric	stomach
4	chr6:33691800-33711600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:33692000-33706800	Weak transcription	Fetal Intestine Small	intestine
6	chr6:33692000-33710200	Weak transcription	Colon Smooth Muscle	Colon
7	chr6:33693600-33712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:33694000-33710600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:33695000-33702400	Weak transcription	Brain Anterior Caudate	brain
10	chr6:33695600-33711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:33698200-33702400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:33698400-33703000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr6:33698400-33703400	Strong transcription	Spleen	Spleen
14	chr6:33699200-33710000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:33699400-33703600	Genic enhancers	Right Ventricle	heart
16	chr6:33699800-33708000	Weak transcription	Fetal Lung	lung
17	chr6:33700000-33705000	Weak transcription	Pancreas	Pancrea
18	chr6:33700200-33706600	Weak transcription	Fetal Intestine Large	intestine
19	chr6:33700400-33707400	Weak transcription	Lung	lung
20	chr6:33700600-33703800	Strong transcription	HSMMtube	muscle
21	chr6:33700600-33704600	Weak transcription	Right Atrium	heart
22	chr6:33700600-33705200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:33700600-33707200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:33700800-33703600	Strong transcription	Brain Substantia Nigra	brain
25	chr6:33700800-33703800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr6:33701000-33702200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:33701000-33705400	Weak transcription	Liver	Liver
28	chr6:33701200-33703400	Strong transcription	Brain Hippocampus Middle	brain
29	chr6:33701200-33704800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:33701400-33702400	Weak transcription	Psoas Muscle	Psoas
31	chr6:33701400-33702600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:33701400-33703000	Weak transcription	HepG2	liver
33	chr6:33701400-33705000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr6:33701600-33702400	Weak transcription	Left Ventricle	heart
35	chr6:33701600-33702400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:33701600-33702600	Strong transcription	Placenta	Placenta
37	chr6:33701600-33702600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:33701600-33703200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr6:33701600-33703600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr6:33701600-33703600	Strong transcription	Fetal Muscle Leg	muscle
41	chr6:33701800-33703600	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr6:33702000-33710000	Genic enhancers	HSMM	muscle

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