Variant report

Variant	rs2087166
Chromosome Location	chr12:32571945-32571946
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32521160..32523381-chr12:32570318..32572312,2	MCF-7	breast:
2	chr12:32551367..32553605-chr12:32570827..32573292,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139132	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10771944	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10844194	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10844202	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11051966	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11051967	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11051980	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11051993	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11052006	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12815894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61927215	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6488053	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7299524	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7312869	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7971525	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs883404	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv469347	chr12:32555846-32602079	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv558189	chr12:32555846-32602079	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32553400-32572200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:32553400-32572200	Weak transcription	HSMMtube	muscle
3	chr12:32553400-32572400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32553600-32572600	Weak transcription	Esophagus	oesophagus
5	chr12:32554000-32572200	Weak transcription	Right Ventricle	heart
6	chr12:32554200-32573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:32554600-32572400	Weak transcription	Fetal Intestine Large	intestine
8	chr12:32554600-32593200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr12:32555400-32572000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:32559800-32572400	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:32571200-32572600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:32571200-32573400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:32571200-32573400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr12:32571200-32573400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:32571200-32573400	Enhancers	Placenta	Placenta
16	chr12:32571200-32573600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:32571400-32572000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:32571400-32572000	Genic enhancers	Gastric	stomach
19	chr12:32571400-32572800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:32571400-32572800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:32571400-32572800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:32571400-32573000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:32571400-32573200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:32571400-32573400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:32571400-32573400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr12:32571400-32573400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr12:32571400-32573400	Enhancers	Stomach Mucosa	stomach
28	chr12:32571600-32572000	Strong transcription	NHEK	skin
29	chr12:32571600-32572600	Strong transcription	Fetal Intestine Small	intestine
30	chr12:32571600-32572800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:32571600-32573200	Enhancers	HMEC	breast
32	chr12:32571600-32573400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:32571600-32573400	Enhancers	Adipose Nuclei	Adipose
34	chr12:32571600-32573400	Enhancers	Left Ventricle	heart
35	chr12:32571600-32573400	Enhancers	Pancreas	Pancrea
36	chr12:32571600-32573600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:32571600-32573600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:32571600-32573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:32571600-32573600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:32571600-32573800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr12:32571600-32574800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:32571600-32576800	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr12:32571800-32572000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:32571800-32572400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr12:32571800-32572800	Enhancers	Liver	Liver
46	chr12:32571800-32573000	Enhancers	Ovary	ovary
47	chr12:32571800-32573000	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:32571800-32573200	Enhancers	Lung	lung
49	chr12:32571800-32573200	Enhancers	Right Atrium	heart
50	chr12:32571800-32573400	Enhancers	Sigmoid Colon	Sigmoid Colon

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