Variant report

Variant	rs2728712
Chromosome Location	chr12:32603504-32603505
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32603040..32606012-chr12:32608738..32610479,2	K562	blood:
2	chr12:32597976..32599716-chr12:32601227..32603938,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11052011	0.88[EUR][1000 genomes]
rs1500874	0.85[JPT][hapmap]
rs1809913	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2389035	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2651360	0.82[JPT][hapmap]
rs2651362	0.85[JPT][hapmap]
rs2651363	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2728671	0.82[JPT][hapmap]
rs2728674	0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2728683	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2728684	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2728713	0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2728715	0.82[JPT][hapmap]
rs2958117	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7297833	0.82[JPT][hapmap]
rs7314978	0.89[EUR][1000 genomes]
rs904917	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs950079	0.82[JPT][hapmap]
rs950080	0.82[JPT][hapmap]
rs950081	0.82[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs950082	0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][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:63 , 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	chr12:32595000-32605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr12:32595800-32604800	Enhancers	HUVEC	blood vessel
6	chr12:32596000-32608800	Weak transcription	Psoas Muscle	Psoas
7	chr12:32598200-32606400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:32598400-32603600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:32598400-32603800	Weak transcription	HSMM	muscle
10	chr12:32599800-32605600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:32599800-32605800	Weak transcription	Ovary	ovary
12	chr12:32599800-32608400	Weak transcription	Brain Substantia Nigra	brain
13	chr12:32600000-32603600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:32600000-32603800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:32600000-32603800	Weak transcription	Spleen	Spleen
16	chr12:32600000-32605000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:32600000-32605600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr12:32600000-32605600	Weak transcription	Pancreas	Pancrea
19	chr12:32600000-32605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:32600000-32605800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:32600000-32605800	Weak transcription	Left Ventricle	heart
22	chr12:32600000-32605800	Weak transcription	Right Atrium	heart
23	chr12:32600000-32606200	Weak transcription	Lung	lung
24	chr12:32600000-32606400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:32600000-32606800	Weak transcription	Colonic Mucosa	Colon
26	chr12:32600000-32607200	Weak transcription	Fetal Kidney	kidney
27	chr12:32600000-32608800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:32600800-32605600	Weak transcription	Gastric	stomach
29	chr12:32601000-32605600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:32601000-32606800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:32601200-32603600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:32601800-32603600	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr12:32601800-32608800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:32601800-32629400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:32602200-32604200	Enhancers	Fetal Intestine Small	intestine
36	chr12:32602400-32603600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:32602600-32636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:32603200-32604000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:32603200-32604200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:32603200-32604200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:32603200-32604400	Enhancers	Stomach Mucosa	stomach
42	chr12:32603400-32603800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:32603400-32603800	Weak transcription	Small Intestine	intestine
44	chr12:32603400-32604000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:32603400-32604000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:32603400-32604000	Enhancers	Adipose Nuclei	Adipose
47	chr12:32603400-32604000	Enhancers	Duodenum Mucosa	Duodenum
48	chr12:32603400-32604000	Genic enhancers	Rectal Mucosa Donor 31	rectum
49	chr12:32603400-32604200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:32603400-32604200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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