Variant report

Variant	rs2522137
Chromosome Location	chr12:120779931-120779932
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120729551..120732306-chr12:120778974..120781933,2	MCF-7	breast:
2	chr12:120779310..120781400-chr12:120781688..120783455,2	MCF-7	breast:
3	chr12:120779682..120782065-chr12:120783234..120785150,2	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1007469	0.88[CEU][hapmap];0.82[TSI][hapmap]
rs10735072	0.93[EUR][1000 genomes]
rs10774544	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10849744	0.92[EUR][1000 genomes]
rs11065080	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11065084	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11065085	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11065086	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11065097	0.90[EUR][1000 genomes]
rs1179434	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs1179435	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1179450	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs1183783	0.85[CEU][hapmap];0.83[TSI][hapmap]
rs1465207	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2238160	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2239198	0.83[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2522136	0.82[CEU][hapmap];0.83[TSI][hapmap]
rs2701632	0.82[CEU][hapmap];0.84[TSI][hapmap]
rs34570155	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67278663	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68012838	0.88[EUR][1000 genomes]
rs7959801	1.00[CEU][hapmap];0.82[CHD][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9669536	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
3	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120764000-120783800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:120764000-120799200	Weak transcription	Right Atrium	heart
3	chr12:120769400-120785000	Weak transcription	Gastric	stomach
4	chr12:120773600-120780000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:120776000-120793200	Weak transcription	Fetal Brain Male	brain
6	chr12:120776400-120781800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:120776600-120784200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:120777800-120780000	Weak transcription	Fetal Stomach	stomach
9	chr12:120778000-120781000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:120778600-120781200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:120778600-120781200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:120778600-120794600	Weak transcription	Brain Anterior Caudate	brain
13	chr12:120779200-120780400	Enhancers	Liver	Liver
14	chr12:120779200-120781000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:120779200-120794600	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:120779400-120781000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:120779400-120796800	Strong transcription	Brain Germinal Matrix	brain
18	chr12:120779600-120780000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr12:120779600-120780000	Enhancers	Fetal Muscle Trunk	muscle
20	chr12:120779600-120780400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr12:120779600-120780400	Flanking Active TSS	HepG2	liver
22	chr12:120779600-120780600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:120779600-120781000	Enhancers	Ovary	ovary
24	chr12:120779600-120781200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:120779600-120783200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr12:120779600-120799000	Weak transcription	Fetal Heart	heart
27	chr12:120779800-120780000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:120779800-120780200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:120779800-120780200	Enhancers	Pancreas	Pancrea
30	chr12:120779800-120794600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:120779800-120797400	Strong transcription	Fetal Brain Female	brain
32	chr12:120779800-120798800	Strong transcription	Fetal Intestine Small	intestine

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