Variant report

Variant	rs7308045
Chromosome Location	chr12:32972395-32972396
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10772008	0.93[CEU][hapmap]
rs10844366	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1114702	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1823924	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2022140	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2045171	0.82[JPT][hapmap]
rs2124152	0.93[CEU][hapmap]
rs2389107	0.91[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2389108	0.93[CEU][hapmap]
rs4420362	0.82[JPT][hapmap]
rs4931044	0.90[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4931045	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6488090	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6488095	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7303077	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7962334	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7979825	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv531961	chr12:32966192-32997952	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32941800-33033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:32943800-33026800	Weak transcription	Fetal Kidney	kidney
3	chr12:32944200-32989400	Weak transcription	Hela-S3	cervix
4	chr12:32945800-32972400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:32946000-32973600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:32949200-32975200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr12:32949200-32987000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:32949200-33007800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:32961000-32989800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:32961800-32973400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:32961800-32974800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:32962000-32973600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:32962200-32974000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:32962400-32973400	Weak transcription	Gastric	stomach
15	chr12:32962400-32973400	Weak transcription	Right Atrium	heart
16	chr12:32962600-32973400	Weak transcription	Pancreas	Pancrea
17	chr12:32963000-32986800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:32964400-32973400	Weak transcription	Colonic Mucosa	Colon
19	chr12:32965000-32972400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:32965000-32977800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:32965000-32996200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:32965400-32972600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr12:32966600-32977800	Strong transcription	Duodenum Mucosa	Duodenum
24	chr12:32967000-32977800	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr12:32967000-32979000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr12:32967400-32972400	Weak transcription	Right Ventricle	heart
27	chr12:32967400-32973600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:32968400-32973200	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:32968400-32977400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:32969400-32972600	Weak transcription	NHEK	skin
31	chr12:32969800-32973400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:32970400-32977600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:32970600-32972600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:32970600-32975200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr12:32970800-32978600	Weak transcription	Small Intestine	intestine
36	chr12:32971000-32972400	Weak transcription	Liver	Liver
37	chr12:32971000-32972800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:32971200-32972600	Weak transcription	Fetal Intestine Large	intestine
39	chr12:32971200-32972600	Weak transcription	Placenta	Placenta
40	chr12:32971200-32972800	Weak transcription	HepG2	liver
41	chr12:32971200-32973600	Weak transcription	Fetal Stomach	stomach
42	chr12:32971200-32981400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:32971400-32972600	Weak transcription	Left Ventricle	heart
44	chr12:32971400-32976600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:32971600-32973400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:32971600-32974000	Strong transcription	HMEC	breast
47	chr12:32971800-32972600	Weak transcription	Fetal Heart	heart
48	chr12:32971800-32974000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
49	chr12:32972000-33029000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr12:32972200-32973600	Weak transcription	Fetal Intestine Small	intestine

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