Variant report

Variant	rs12809847
Chromosome Location	chr12:32607697-32607698
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11052012	0.89[ASN][1000 genomes]
rs12367135	1.00[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap]
rs12819555	0.80[AFR][1000 genomes]
rs1566513	0.80[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2047643	0.82[ASW][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2388991	0.80[CHB][hapmap]

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:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32592600-32608600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:32594000-32608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
4	chr12:32596000-32608800	Weak transcription	Psoas Muscle	Psoas
5	chr12:32599800-32608400	Weak transcription	Brain Substantia Nigra	brain
6	chr12:32600000-32608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:32601800-32608800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:32601800-32629400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:32602600-32636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr12:32604000-32609200	Weak transcription	Small Intestine	intestine
11	chr12:32604200-32608600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:32604200-32608600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr12:32604200-32608600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:32604200-32608600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:32604800-32610000	Enhancers	Fetal Intestine Large	intestine
16	chr12:32605000-32607800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:32605000-32608600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:32605000-32610400	Enhancers	Fetal Intestine Small	intestine
19	chr12:32605000-32610800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:32605400-32607800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:32605600-32608800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:32605800-32608400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:32606000-32623600	Weak transcription	Pancreas	Pancrea
24	chr12:32606000-32624600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:32606000-32624600	Weak transcription	Gastric	stomach
26	chr12:32606400-32607800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr12:32606400-32608600	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:32606400-32609800	Enhancers	Stomach Mucosa	stomach
29	chr12:32606400-32612600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:32606600-32608400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr12:32606600-32608600	Weak transcription	Ovary	ovary
32	chr12:32606600-32608800	Weak transcription	Right Atrium	heart
33	chr12:32606600-32609200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr12:32606600-32610600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:32606600-32616600	Weak transcription	Left Ventricle	heart
36	chr12:32606600-32624600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:32606800-32608000	Flanking Active TSS	A549	lung
38	chr12:32606800-32608000	Enhancers	NHLF	lung
39	chr12:32606800-32608200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr12:32606800-32608200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:32606800-32608200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr12:32606800-32608600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:32606800-32608600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:32606800-32608600	Enhancers	Adipose Nuclei	Adipose
45	chr12:32606800-32610600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr12:32607000-32607800	Flanking Active TSS	NHEK	skin
47	chr12:32607000-32608000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:32607000-32608200	Enhancers	Hela-S3	cervix
49	chr12:32607000-32608400	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr12:32607000-32608600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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