Variant report

Variant	rs7315859
Chromosome Location	chr12:30828635-30828636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10743725	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843794	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843797	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843798	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10843805	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051009	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051023	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051026	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051030	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051034	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11051044	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11051046	0.88[ASN][1000 genomes]
rs11610452	0.88[ASN][1000 genomes]
rs12306961	0.88[ASN][1000 genomes]
rs12308822	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12310942	0.88[ASN][1000 genomes]
rs12315446	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12371883	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12372023	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2099028	0.88[ASN][1000 genomes]
rs3906774	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59483134	0.85[ASN][1000 genomes]
rs6487924	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6487929	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6487931	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7135005	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7302606	0.87[EUR][1000 genomes]
rs7302757	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7303665	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7306125	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7307432	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7308638	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7310127	0.83[EUR][1000 genomes]
rs73292874	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs74083892	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7963438	0.83[EUR][1000 genomes]
rs7963524	0.94[ASN][1000 genomes]
rs7968669	0.88[ASN][1000 genomes]
rs7968760	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9651844	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:30780800-30847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:30783800-30829000	Weak transcription	Small Intestine	intestine
4	chr12:30784800-30836600	Weak transcription	Fetal Heart	heart
5	chr12:30785000-30847800	Weak transcription	Gastric	stomach
6	chr12:30785200-30846400	Weak transcription	Spleen	Spleen
7	chr12:30785400-30847200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:30807800-30835200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:30808000-30837800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:30808400-30829800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr12:30808600-30830400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:30808600-30839200	Strong transcription	Liver	Liver
13	chr12:30808800-30835000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr12:30808800-30838000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:30809200-30828800	Weak transcription	Pancreas	Pancrea
16	chr12:30810000-30838200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:30810800-30843200	Strong transcription	Dnd41	blood
18	chr12:30810800-30843800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr12:30811000-30844200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:30811200-30830200	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr12:30812200-30832200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:30812200-30837400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:30812600-30830200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:30812600-30844200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:30813000-30839400	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr12:30813200-30831600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:30813200-30844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:30813600-30831600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr12:30813600-30844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:30815400-30845800	Weak transcription	Fetal Brain Male	brain
31	chr12:30816000-30829600	Weak transcription	HMEC	breast
32	chr12:30816200-30831600	Weak transcription	Hela-S3	cervix
33	chr12:30816200-30844000	Weak transcription	NHEK	skin
34	chr12:30816400-30844200	Weak transcription	NHLF	lung
35	chr12:30818000-30831800	Strong transcription	Primary B cells from cord blood	blood
36	chr12:30818600-30834800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:30820600-30831000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:30820800-30836600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:30821000-30832400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:30821400-30834200	Weak transcription	Stomach Mucosa	stomach
41	chr12:30821600-30834800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:30821600-30837600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:30821600-30844200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr12:30821800-30829800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:30821800-30835400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr12:30821800-30847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:30821800-30847400	Weak transcription	Lung	lung
48	chr12:30822000-30829400	Weak transcription	GM12878-XiMat	blood
49	chr12:30822000-30829400	Weak transcription	NHDF-Ad	bronchial
50	chr12:30822000-30846600	Weak transcription	H9 Cell Line	embryonic stem cell

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