Variant report

Variant	rs12313413
Chromosome Location	chr12:120531288-120531289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120531255..120536116-chr12:120549011..120557533,8	MCF-7	breast:
2	chr12:120517623..120519527-chr12:120530789..120533124,2	MCF-7	breast:
3	chr12:120529252..120531739-chr12:120728322..120731564,3	MCF-7	breast:
4	chr12:120530978..120533151-chr12:120637403..120639984,2	K562	blood:
5	chr12:120529758..120533741-chr12:120726351..120730111,5	MCF-7	breast:
6	chr12:120528003..120529551-chr12:120530435..120532991,2	K562	blood:

Variant related genes	Relation type
ENSG00000111737	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000135127	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089157	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10128766	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10400498	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10400560	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10849731	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10849732	0.82[ASN][1000 genomes]
rs10849735	0.83[ASN][1000 genomes]
rs10849736	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11064987	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11064988	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11064996	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065003	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11833221	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12310269	0.94[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12310591	0.88[ASN][1000 genomes]
rs12318774	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12320793	0.80[ASN][1000 genomes]
rs12322236	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12422923	0.88[ASN][1000 genomes]
rs16949901	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16949946	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16949961	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17841967	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2239200	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239201	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239202	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239203	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239204	0.95[ASN][1000 genomes]
rs2283359	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283360	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283361	0.81[ASN][1000 genomes]
rs2286040	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28726166	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3742042	0.83[AMR][1000 genomes]
rs4767869	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4767871	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767872	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4767875	0.88[ASN][1000 genomes]
rs4767876	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58272825	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59168361	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60466490	0.94[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7298183	0.82[ASN][1000 genomes]
rs7298727	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7300023	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7312971	0.88[ASN][1000 genomes]
rs7397339	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7958402	0.94[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7958497	0.80[ASN][1000 genomes]
rs7965829	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7968557	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7978927	0.87[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	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525400-120534200	Weak transcription	Right Atrium	heart
2	chr12:120525600-120531400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:120525600-120531600	Weak transcription	Aorta	Aorta
4	chr12:120525600-120531600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:120525600-120531600	Weak transcription	K562	blood
6	chr12:120525600-120532200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:120525600-120532200	Weak transcription	Colon Smooth Muscle	Colon
8	chr12:120525600-120532400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:120525600-120532400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:120525600-120532400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:120525600-120532400	Weak transcription	Ovary	ovary
12	chr12:120525600-120532400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:120525600-120533600	Weak transcription	Stomach Mucosa	stomach
14	chr12:120525600-120533600	Weak transcription	HSMMtube	muscle
15	chr12:120525600-120533600	Weak transcription	HUVEC	blood vessel
16	chr12:120525600-120533800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:120525600-120536000	Weak transcription	NHDF-Ad	bronchial
18	chr12:120525600-120539200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:120525800-120532000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr12:120525800-120532200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:120525800-120532400	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr12:120525800-120532400	Weak transcription	Osteobl	bone
24	chr12:120525800-120532600	Weak transcription	Liver	Liver
25	chr12:120525800-120533600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:120525800-120533800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr12:120525800-120536200	Weak transcription	Hela-S3	cervix
28	chr12:120525800-120539200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr12:120526200-120532600	Weak transcription	GM12878-XiMat	blood
31	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
32	chr12:120527600-120531400	Strong transcription	Primary T cells from cord blood	blood
33	chr12:120527600-120531400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr12:120527600-120531600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:120527600-120532600	Strong transcription	Fetal Brain Female	brain
36	chr12:120527600-120537600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:120527600-120538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr12:120527600-120539200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:120527600-120539800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:120527600-120540400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr12:120527800-120531400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:120527800-120531600	Strong transcription	Spleen	Spleen
44	chr12:120528400-120536800	Strong transcription	Esophagus	oesophagus
45	chr12:120528400-120537400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:120528600-120531800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:120528600-120537400	Strong transcription	Gastric	stomach
48	chr12:120528600-120537800	Strong transcription	Pancreas	Pancrea
49	chr12:120528600-120538400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr12:120528600-120538800	Strong transcription	NHEK	skin

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