Variant report

Variant	rs12731770
Chromosome Location	chr1:224252037-224252038
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	chr1:224249439..224252830-chr1:224300873..224303408,3	MCF-7	breast:
2	chr1:224250641..224252254-chr1:224261183..224263972,2	K562	blood:

Variant related genes	Relation type
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10916370	0.84[CEU][hapmap]
rs11576702	0.83[CEU][hapmap]
rs12722938	0.84[CEU][hapmap]
rs12725040	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12725830	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12737029	0.84[CEU][hapmap]
rs16844823	0.84[CEU][hapmap]
rs16848126	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2008340	0.84[CEU][hapmap]
rs34387992	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34978219	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35533869	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4653926	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57408556	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6663154	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7536577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224246400-224253400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:224247000-224252200	Weak transcription	HMEC	breast
3	chr1:224248000-224253200	Weak transcription	HUVEC	blood vessel
4	chr1:224248400-224252400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:224249600-224255200	Weak transcription	K562	blood
6	chr1:224249600-224256000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:224249800-224253200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:224250600-224252600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr1:224250600-224257800	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr1:224251000-224253800	Enhancers	Fetal Intestine Large	intestine
11	chr1:224251400-224252200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:224251400-224252200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:224251400-224252400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr1:224251400-224252600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:224251400-224252600	Enhancers	Small Intestine	intestine
16	chr1:224251400-224253000	Enhancers	Gastric	stomach
17	chr1:224251400-224253800	Enhancers	Fetal Intestine Small	intestine
18	chr1:224251400-224253800	Enhancers	Stomach Mucosa	stomach
19	chr1:224251600-224252400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:224252000-224252800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr1:224252000-224254400	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr1:224252000-224256200	Enhancers	NHDF-Ad	bronchial
23	chr1:224252000-224256600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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