Variant report

Variant	rs11052019
Chromosome Location	chr12:32632274-32632275
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11052059	1.00[ASN][1000 genomes]
rs11052064	1.00[ASN][1000 genomes]
rs11052101	1.00[ASN][1000 genomes]
rs12372735	1.00[ASN][1000 genomes]
rs12422740	1.00[ASN][1000 genomes]
rs2036268	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
2	chr12:32602600-32636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:32610800-32636400	Weak transcription	NHEK	skin
4	chr12:32610800-32639000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:32616000-32638600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:32619600-32642000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:32621600-32636400	Weak transcription	Right Ventricle	heart
8	chr12:32621800-32654000	Weak transcription	Lung	lung
9	chr12:32624800-32636400	Weak transcription	HMEC	breast
10	chr12:32625000-32636400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:32625000-32655800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:32625200-32636400	Weak transcription	Gastric	stomach
13	chr12:32625200-32655200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:32627200-32638600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:32628600-32633000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr12:32628600-32637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:32629400-32643600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:32629600-32635400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:32629600-32643000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:32629800-32632800	Weak transcription	Pancreas	Pancrea
21	chr12:32629800-32633800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr12:32629800-32634200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:32629800-32634400	Weak transcription	Adipose Nuclei	Adipose
24	chr12:32629800-32634800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr12:32629800-32636000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:32629800-32636400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:32629800-32636400	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:32629800-32636400	Weak transcription	Left Ventricle	heart
29	chr12:32630000-32634800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:32630000-32638800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:32630400-32632400	Enhancers	Primary B cells from peripheral blood	blood
32	chr12:32630600-32632400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr12:32630600-32636200	Weak transcription	Fetal Brain Male	brain
34	chr12:32630800-32638000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:32631000-32633200	Genic enhancers	Fetal Intestine Small	intestine
36	chr12:32631000-32634800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:32631200-32632400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr12:32631200-32633200	Enhancers	Fetal Intestine Large	intestine
39	chr12:32631400-32636600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr12:32631600-32632400	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr12:32631600-32633000	Enhancers	Liver	Liver
42	chr12:32631600-32633000	Enhancers	Stomach Mucosa	stomach
43	chr12:32631600-32633800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:32631600-32636200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:32631600-32638800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:32631800-32633000	Enhancers	HepG2	liver
47	chr12:32631800-32634400	Weak transcription	Primary B cells from cord blood	blood
48	chr12:32631800-32634400	Weak transcription	HUVEC	blood vessel
49	chr12:32631800-32636600	Weak transcription	Small Intestine	intestine
50	chr12:32631800-32643600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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