Variant report

Variant	rs12322862
Chromosome Location	chr12:117589169-117589170
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117587228..117589286-chr12:117592743..117594300,2	K562	blood:
2	chr12:117589065..117590873-chr12:117591170..117593716,2	K562	blood:
3	chr12:117140735..117141671-chr12:117588590..117589561,3	K562	blood:
4	chr12:117587735..117590718-chr12:117591687..117594987,3	MCF-7	breast:
5	chr12:117463007..117463900-chr12:117588701..117589613,6	MCF-7	breast:
6	chr12:117581744..117585061-chr12:117588587..117590635,3	MCF-7	breast:
7	chr12:117463032..117464059-chr12:117588578..117590000,12	K562	blood:

No data

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1060233	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10850778	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10850779	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10850780	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11068380	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11068388	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11068393	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12297092	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12298285	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12316322	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12319767	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1466852	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17508240	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4238052	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4766832	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4766833	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4767508	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4767509	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4767510	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4767517	0.80[EUR][1000 genomes]
rs56014034	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61568898	0.85[ASN][1000 genomes]
rs73206036	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73206082	0.86[ASN][1000 genomes]
rs7487508	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117572400-117596000	Weak transcription	Fetal Brain Male	brain
2	chr12:117578200-117617200	Strong transcription	Fetal Stomach	stomach
3	chr12:117578600-117591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:117579000-117618200	Strong transcription	Thymus	Thymus
5	chr12:117579200-117602600	Weak transcription	Psoas Muscle	Psoas
6	chr12:117579200-117623000	Strong transcription	Primary T cells from cord blood	blood
7	chr12:117579400-117616800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:117579600-117590800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:117579600-117591800	Weak transcription	NH-A	brain
10	chr12:117580000-117593400	Weak transcription	Small Intestine	intestine
11	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:117580400-117593600	Weak transcription	HSMM	muscle
14	chr12:117580400-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:117580600-117589600	Strong transcription	Dnd41	blood
16	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:117580800-117590600	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:117581200-117618400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr12:117581200-117624600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr12:117581400-117624200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:117581600-117593000	Strong transcription	Fetal Intestine Large	intestine
23	chr12:117581600-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:117581800-117589400	Strong transcription	Fetal Thymus	thymus
25	chr12:117581800-117591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:117582000-117593200	Strong transcription	Fetal Intestine Small	intestine
27	chr12:117582000-117613200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:117582200-117606200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:117582200-117623400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr12:117582200-117625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:117582400-117594000	Strong transcription	Gastric	stomach
32	chr12:117582400-117624400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:117582600-117608400	Strong transcription	Liver	Liver
34	chr12:117582800-117591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:117584000-117591600	Weak transcription	Fetal Kidney	kidney
36	chr12:117584000-117595400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:117584200-117590600	Weak transcription	HMEC	breast
38	chr12:117584200-117590800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr12:117584200-117592200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:117584600-117591200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:117584600-117591800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:117585200-117589400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr12:117585600-117619000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:117585600-117619800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr12:117585800-117590600	Weak transcription	Colonic Mucosa	Colon
46	chr12:117585800-117600600	Strong transcription	Primary B cells from cord blood	blood
47	chr12:117585800-117602800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:117585800-117625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr12:117586600-117589400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr12:117586600-117590000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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