Variant report

Variant	rs597723
Chromosome Location	chr6:33694079-33694080
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33692582..33695228-chr6:33717074..33719027,2	K562	blood:
2	chr6:33692177..33695084-chr6:33755126..33757076,2	MCF-7	breast:
3	chr6:33678200..33682184-chr6:33690933..33696225,5	K562	blood:
4	chr6:33693493..33694998-chr6:33697111..33699180,2	K562	blood:
5	chr6:33693249..33695267-chr6:33719623..33721316,2	K562	blood:

Variant related genes	Relation type
ENSG00000161904	Chromatin interaction
ENSG00000137288	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1998949	0.80[EUR][1000 genomes]
rs487835	0.91[EUR][1000 genomes]
rs530614	0.90[EUR][1000 genomes]
rs549652	0.83[ASN][1000 genomes]
rs570749	0.89[EUR][1000 genomes]
rs602399	0.90[EUR][1000 genomes]
rs608971	0.89[ASN][1000 genomes]
rs623813	0.89[ASN][1000 genomes]
rs652049	0.91[EUR][1000 genomes]
rs658087	0.83[ASN][1000 genomes]
rs684119	0.83[ASN][1000 genomes]
rs688209	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7752348	0.83[EUR][1000 genomes]
rs791904	0.91[EUR][1000 genomes]
rs943463	0.82[EUR][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	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33680000-33695200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:33680000-33695800	Weak transcription	Spleen	Spleen
3	chr6:33680000-33696200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:33680000-33698400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:33680000-33705000	Weak transcription	Brain Angular Gyrus	brain
6	chr6:33686200-33700200	Weak transcription	Liver	Liver
7	chr6:33686400-33710600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:33686600-33695800	Weak transcription	Right Atrium	heart
9	chr6:33686600-33698600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:33688800-33698200	Weak transcription	Lung	lung
11	chr6:33688800-33700000	Strong transcription	HSMM	muscle
12	chr6:33689200-33696800	Strong transcription	HSMMtube	muscle
13	chr6:33689400-33695000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:33689600-33694600	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr6:33689600-33696600	Enhancers	Fetal Brain Male	brain
16	chr6:33690600-33694200	Weak transcription	Placenta	Placenta
17	chr6:33690800-33708200	Weak transcription	Gastric	stomach
18	chr6:33691600-33695600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:33691800-33694400	Strong transcription	Left Ventricle	heart
20	chr6:33691800-33711600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:33692000-33696800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr6:33692000-33697000	Weak transcription	Psoas Muscle	Psoas
23	chr6:33692000-33706800	Weak transcription	Fetal Intestine Small	intestine
24	chr6:33692000-33710200	Weak transcription	Colon Smooth Muscle	Colon
25	chr6:33692600-33699200	Weak transcription	Fetal Lung	lung
26	chr6:33692800-33695600	Weak transcription	Brain Substantia Nigra	brain
27	chr6:33692800-33701000	Weak transcription	Fetal Brain Female	brain
28	chr6:33693000-33698600	Strong transcription	Brain Hippocampus Middle	brain
29	chr6:33693200-33694600	Genic enhancers	Right Ventricle	heart
30	chr6:33693200-33697200	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr6:33693200-33698200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:33693200-33700800	Strong transcription	Fetal Muscle Leg	muscle
33	chr6:33693400-33694400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr6:33693400-33695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr6:33693400-33695200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:33693400-33701200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr6:33693600-33695000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr6:33693600-33712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:33694000-33694200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:33694000-33694600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr6:33694000-33695000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr6:33694000-33695000	Strong transcription	Brain Anterior Caudate	brain
43	chr6:33694000-33697600	Enhancers	Pancreas	Pancrea
44	chr6:33694000-33710600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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