Variant report

Variant	rs1023713
Chromosome Location	chr2:56354964-56354965
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	chr2:56347349..56349192-chr2:56353229..56355396,2	K562	blood:
2	chr2:56347349..56350216-chr2:56353199..56356668,4	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1368245	0.86[AFR][1000 genomes]
rs4430983	0.92[ASN][1000 genomes]
rs6545545	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7369847	0.94[ASN][1000 genomes]
rs7370055	0.94[ASN][1000 genomes]
rs7561121	0.87[ASN][1000 genomes]
rs929689	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757799	chr2:56178439-56472394	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv2759051	chr2:56178439-56472394	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
3	nsv874162	chr2:56255832-56480571	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv34703	chr2:56272949-56382181	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv874163	chr2:56280428-56357582	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv874164	chr2:56280428-56388746	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv874165	chr2:56280428-56393918	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv9824	chr2:56282176-56392083	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv874166	chr2:56282762-56370879	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv874167	chr2:56284418-56388746	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv457952	chr2:56292883-56388746	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv582031	chr2:56292883-56388746	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr2:56348000-56355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:56349200-56360400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:56350600-56375000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:56351200-56370000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:56353400-56356400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:56353800-56355000	Enhancers	K562	blood
7	chr2:56354000-56355600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:56354200-56355000	Enhancers	Brain Anterior Caudate	brain
9	chr2:56354200-56355600	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:56354400-56355200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:56354400-56355200	Enhancers	Brain Hippocampus Middle	brain
12	chr2:56354400-56355600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:56354600-56355000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:56354600-56355000	Enhancers	Brain Angular Gyrus	brain
15	chr2:56354600-56355200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:56354600-56355400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:56354600-56355600	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr2:56354800-56355000	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr2:56354800-56355000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr2:56354800-56355400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:56354800-56355600	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links