Variant report

Variant	rs62128596
Chromosome Location	chr2:10695384-10695385
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	chr2:10690817..10693702-chr2:10693915..10697831,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12474784	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62128614	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6718912	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6736915	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7570690	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv873654	chr2:10655141-10698364	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv873661	chr2:10675549-10703476	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv525241	chr2:10684391-10703476	Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10688200-10708800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:10689200-10710600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:10689800-10701800	Weak transcription	Pancreas	Pancrea
4	chr2:10690800-10698800	Weak transcription	Fetal Brain Female	brain
5	chr2:10691200-10695600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:10691200-10701400	Weak transcription	Right Atrium	heart
7	chr2:10691800-10700800	Weak transcription	Spleen	Spleen
8	chr2:10692200-10709600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:10692600-10705400	Weak transcription	Fetal Thymus	thymus
10	chr2:10693000-10708800	Weak transcription	NHEK	skin
11	chr2:10693200-10700200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:10693200-10700200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:10694200-10700200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:10694200-10710000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:10695200-10695400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:10695200-10695600	Enhancers	Left Ventricle	heart
17	chr2:10695200-10695800	Enhancers	Adipose Nuclei	Adipose
18	chr2:10695200-10696000	Enhancers	Lung	lung
19	chr2:10695200-10696200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:10695200-10696200	Enhancers	HUVEC	blood vessel
21	chr2:10695200-10696400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr2:10695200-10696600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr2:10695200-10696600	Enhancers	Fetal Muscle Trunk	muscle
24	chr2:10695200-10696800	Enhancers	Fetal Muscle Leg	muscle

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