Variant report

Variant	rs686362
Chromosome Location	chr1:120221011-120221012
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120188672..120190816-chr1:120220429..120222644,2	K562	blood:
2	chr1:120215638..120218365-chr1:120219886..120221935,2	K562	blood:
3	chr1:120216390..120222237-chr1:120252306..120257638,5	MCF-7	breast:
4	chr1:120216865..120219033-chr1:120220435..120223044,2	K562	blood:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction
ENSG00000092621	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs493427	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs539799	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120217200-120221400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:120217600-120222000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:120218400-120222000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:120218600-120221400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr1:120218600-120221600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:120218600-120221600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:120218800-120221400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:120218800-120221400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:120218800-120221600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:120218800-120221600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:120218800-120221600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:120218800-120221600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:120218800-120221600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr1:120218800-120221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:120218800-120221800	Weak transcription	Fetal Intestine Small	intestine
16	chr1:120218800-120222200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:120218800-120222400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:120218800-120225000	Weak transcription	NHEK	skin
19	chr1:120219000-120226200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:120220800-120224600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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