Variant report

Variant	rs12422740
Chromosome Location	chr12:32596661-32596662
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11052019	1.00[ASN][1000 genomes]
rs11052059	1.00[ASN][1000 genomes]
rs11052064	1.00[ASN][1000 genomes]
rs11052101	1.00[ASN][1000 genomes]
rs12372735	1.00[ASN][1000 genomes]
rs2036268	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
7	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32582600-32598600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:32589400-32598400	Weak transcription	Brain Substantia Nigra	brain
3	chr12:32589600-32597400	Weak transcription	Stomach Mucosa	stomach
4	chr12:32590200-32597800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:32591000-32597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:32591000-32597600	Weak transcription	HepG2	liver
7	chr12:32591000-32599600	Weak transcription	Lung	lung
8	chr12:32591200-32597800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:32591400-32597600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:32592600-32608600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:32593400-32599000	Weak transcription	Colonic Mucosa	Colon
12	chr12:32593600-32597600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:32593800-32597400	Weak transcription	Right Ventricle	heart
14	chr12:32593800-32597600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:32594000-32608800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:32594200-32597600	Weak transcription	Fetal Intestine Large	intestine
17	chr12:32594200-32597800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:32594200-32598000	Weak transcription	Adipose Nuclei	Adipose
19	chr12:32594200-32598600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:32594400-32597400	Weak transcription	Placenta	Placenta
21	chr12:32594600-32597400	Weak transcription	NHEK	skin
22	chr12:32594600-32597600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr12:32594600-32599000	Weak transcription	Pancreas	Pancrea
24	chr12:32594600-32599200	Weak transcription	Right Atrium	heart
25	chr12:32594600-32659000	Weak transcription	Esophagus	oesophagus
26	chr12:32594800-32596800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:32594800-32597600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:32594800-32598000	Weak transcription	Ovary	ovary
29	chr12:32594800-32598400	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:32594800-32598800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr12:32594800-32598800	Weak transcription	Left Ventricle	heart
32	chr12:32594800-32599400	Weak transcription	Gastric	stomach
33	chr12:32595000-32597000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:32595000-32597600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr12:32595000-32597600	Weak transcription	Fetal Intestine Small	intestine
36	chr12:32595000-32598800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:32595000-32598800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr12:32595000-32605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr12:32595600-32598000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:32595800-32604800	Enhancers	HUVEC	blood vessel
41	chr12:32596000-32596800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:32596000-32608800	Weak transcription	Psoas Muscle	Psoas
43	chr12:32596200-32596800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:32596200-32597600	Enhancers	A549	lung
45	chr12:32596200-32599600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr12:32596200-32601200	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr12:32596200-32602600	Enhancers	HMEC	breast
48	chr12:32596400-32597400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr12:32596400-32597600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:32596400-32597600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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