Variant report

Variant	rs2047643
Chromosome Location	chr12:32609341-32609342
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32608200..32609397-chr12:32907789..32908892,3	K562	blood:
2	chr12:32608432..32610504-chr12:32824697..32826593,2	MCF-7	breast:
3	chr12:32551357..32553287-chr12:32607943..32610512,2	MCF-7	breast:
4	chr12:32603040..32606012-chr12:32608738..32610479,2	K562	blood:
5	chr12:32609072..32611806-chr12:32903576..32905395,2	K562	blood:
6	chr12:32608205..32609405-chr12:32809972..32811167,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139131	Chromatin interaction
ENSG00000139132	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10844202	0.85[AMR][1000 genomes]
rs11052006	0.88[AMR][1000 genomes]
rs11052012	0.91[ASN][1000 genomes]
rs11052014	0.87[ASN][1000 genomes]
rs11052015	0.87[ASN][1000 genomes]
rs12367135	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12809847	0.89[ASN][1000 genomes]
rs12819555	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1566513	0.91[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1566514	0.87[ASN][1000 genomes]
rs2388991	0.88[CEU][hapmap];0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs34382604	0.87[ASN][1000 genomes]
rs34957239	0.87[ASN][1000 genomes]
rs61927215	0.85[AMR][1000 genomes]
rs7299524	0.85[AMR][1000 genomes]
rs7971525	0.85[AMR][1000 genomes]
rs883404	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32601800-32629400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:32602600-32636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:32604800-32610000	Enhancers	Fetal Intestine Large	intestine
5	chr12:32605000-32610400	Enhancers	Fetal Intestine Small	intestine
6	chr12:32605000-32610800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr12:32606000-32623600	Weak transcription	Pancreas	Pancrea
8	chr12:32606000-32624600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:32606000-32624600	Weak transcription	Gastric	stomach
10	chr12:32606400-32609800	Enhancers	Stomach Mucosa	stomach
11	chr12:32606400-32612600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:32606600-32610600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:32606600-32616600	Weak transcription	Left Ventricle	heart
14	chr12:32606600-32624600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:32606800-32610600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:32607400-32611200	Enhancers	HSMM	muscle
17	chr12:32607400-32615200	Weak transcription	Aorta	Aorta
18	chr12:32607800-32610800	Flanking Active TSS	HUVEC	blood vessel
19	chr12:32608000-32609600	Weak transcription	NHLF	lung
20	chr12:32608200-32609400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:32608400-32610000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr12:32608400-32610400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr12:32608600-32609400	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr12:32608600-32609400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr12:32608600-32609400	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr12:32608600-32609400	Active TSS	Fetal Brain Male	brain
27	chr12:32608600-32609400	Flanking Active TSS	HMEC	breast
28	chr12:32608600-32609600	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr12:32608600-32610200	Active TSS	Stomach Smooth Muscle	stomach
30	chr12:32608600-32610800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:32608600-32629600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:32608800-32609400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:32608800-32609400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:32608800-32609400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr12:32608800-32609400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:32608800-32609400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr12:32608800-32609400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:32608800-32609400	Flanking Active TSS	Liver	Liver
39	chr12:32608800-32609400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr12:32608800-32609400	Enhancers	Rectal Smooth Muscle	rectum
41	chr12:32608800-32609400	Enhancers	Right Ventricle	heart
42	chr12:32608800-32609400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr12:32608800-32609600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:32608800-32609600	Enhancers	Hela-S3	cervix
45	chr12:32608800-32610000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:32608800-32610800	Enhancers	Primary B cells from cord blood	blood
47	chr12:32608800-32610800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr12:32608800-32611400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:32609000-32609400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:32609000-32609400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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