Variant report

Variant	rs62385122
Chromosome Location	chr6:5007192-5007193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5006973..5009599-chr6:5012342..5015165,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11970716	0.83[ASN][1000 genomes]
rs12194104	0.80[ASN][1000 genomes]
rs12200195	0.87[ASN][1000 genomes]
rs2793239	0.80[ASN][1000 genomes]
rs57793325	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57919800	0.80[ASN][1000 genomes]
rs59552394	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs59638108	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62385113	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62385115	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62385117	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62385118	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62385119	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62385121	1.00[ASN][1000 genomes]
rs62385123	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62385142	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62385148	1.00[EUR][1000 genomes]
rs62385159	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62386470	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62386471	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73365175	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs811259	0.88[ASN][1000 genomes]
rs9328283	1.00[ASN][1000 genomes]
rs9328284	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv830577	chr6:4834567-5050544	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv462622	chr6:4904380-5172009	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv600871	chr6:4904380-5172009	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033905	chr6:4955826-5080904	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5004600-5014000	Weak transcription	Lung	lung
2	chr6:5004800-5012200	Weak transcription	Ovary	ovary
3	chr6:5004800-5012800	Weak transcription	Aorta	Aorta
4	chr6:5004800-5013000	Weak transcription	Esophagus	oesophagus
5	chr6:5005000-5008000	Weak transcription	Spleen	Spleen
6	chr6:5005200-5007400	Weak transcription	Fetal Kidney	kidney
7	chr6:5005200-5007800	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:5005200-5007800	Weak transcription	K562	blood
9	chr6:5005200-5008000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:5005200-5008000	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:5005200-5008000	Weak transcription	Fetal Thymus	thymus
12	chr6:5005200-5012400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr6:5005200-5013000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr6:5005200-5013000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr6:5005200-5013200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:5005200-5014200	Weak transcription	Primary T cells from cord blood	blood
17	chr6:5005200-5017000	Weak transcription	Primary B cells from cord blood	blood
18	chr6:5005200-5025800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr6:5005400-5012400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:5005400-5012800	Weak transcription	HepG2	liver
21	chr6:5006800-5011400	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links