Variant report

Variant	rs11833221
Chromosome Location	chr12:120536089-120536090
allele	G/T
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	chr12:120534907..120536863-chr12:120554479..120556422,2	MCF-7	breast:
3	chr12:120534696..120538363-chr12:120637562..120639888,4	K562	blood:
4	chr12:120534696..120538363-chr12:120637562..120641387,4	K562	blood:
5	chr12:120426493..120428297-chr12:120534910..120538709,3	MCF-7	breast:
6	chr12:120534104..120540073-chr12:120552292..120555790,7	K562	blood:

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

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10128766	0.86[ASN][1000 genomes]
rs10400498	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10400560	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10849731	0.86[ASN][1000 genomes]
rs10849732	0.86[ASN][1000 genomes]
rs10849735	0.88[ASN][1000 genomes]
rs10849736	0.91[ASN][1000 genomes]
rs11064987	0.85[ASN][1000 genomes]
rs11064988	0.86[ASN][1000 genomes]
rs11064996	0.88[ASN][1000 genomes]
rs11065003	0.91[ASN][1000 genomes]
rs12310269	0.88[ASN][1000 genomes]
rs12310591	0.91[ASN][1000 genomes]
rs12313413	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12318774	0.86[ASN][1000 genomes]
rs12320793	0.85[ASN][1000 genomes]
rs12322236	0.86[ASN][1000 genomes]
rs12422923	0.91[ASN][1000 genomes]
rs16949901	0.91[ASN][1000 genomes]
rs16949946	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16949961	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17841967	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2239200	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239201	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239202	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2239203	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2239204	0.99[ASN][1000 genomes]
rs2283359	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283360	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2283361	0.83[ASN][1000 genomes]
rs2286040	0.80[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28726166	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4767869	0.86[ASN][1000 genomes]
rs4767871	0.91[ASN][1000 genomes]
rs4767872	0.91[ASN][1000 genomes]
rs4767875	0.91[ASN][1000 genomes]
rs4767876	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58272825	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59168361	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60466490	0.91[ASN][1000 genomes]
rs7298183	0.86[ASN][1000 genomes]
rs7298727	0.86[ASN][1000 genomes]
rs7300023	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7312971	0.91[ASN][1000 genomes]
rs7397339	0.91[ASN][1000 genomes]
rs7958402	0.86[ASN][1000 genomes]
rs7958497	0.83[ASN][1000 genomes]
rs7965829	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7968557	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7978927	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS 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 miRNA target site	94 gene(s)	inside rSNPs	diseases
6	nsv560434	chr12:120534147-120545718	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120525600-120539200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:120525600-120551800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:120525800-120536200	Weak transcription	Hela-S3	cervix
4	chr12:120525800-120539200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr12:120525800-120553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:120527400-120546800	Strong transcription	Thymus	Thymus
7	chr12:120527600-120537600	Strong transcription	Primary T helper cells PMA-I stimulated	--
8	chr12:120527600-120538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:120527600-120539200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:120527600-120539800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:120527600-120540400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:120527600-120546000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:120528400-120536800	Strong transcription	Esophagus	oesophagus
14	chr12:120528400-120537400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:120528600-120537400	Strong transcription	Gastric	stomach
16	chr12:120528600-120537800	Strong transcription	Pancreas	Pancrea
17	chr12:120528600-120538400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:120528600-120538800	Strong transcription	NHEK	skin
19	chr12:120529000-120540400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:120529000-120546800	Strong transcription	Dnd41	blood
21	chr12:120529200-120537800	Strong transcription	Muscle Satellite Cultured Cells	--
22	chr12:120529400-120538400	Strong transcription	Lung	lung
23	chr12:120529400-120538400	Strong transcription	NHLF	lung
24	chr12:120529600-120538200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:120529600-120538200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:120529600-120538200	Weak transcription	Psoas Muscle	Psoas
27	chr12:120529600-120543000	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:120529800-120539200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:120529800-120542200	Strong transcription	Fetal Intestine Large	intestine
30	chr12:120530000-120539200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr12:120530400-120537200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:120530400-120538400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:120530800-120540400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr12:120531600-120537600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:120531800-120538400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr12:120532000-120537800	Strong transcription	Placenta	Placenta
37	chr12:120532200-120539000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:120532200-120539600	Strong transcription	Primary T cells from cord blood	blood
39	chr12:120532400-120536800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:120532400-120536800	Strong transcription	Ovary	ovary
41	chr12:120532400-120537200	Strong transcription	Osteobl	bone
42	chr12:120532400-120537600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:120532400-120538000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:120532400-120538000	Strong transcription	Brain Germinal Matrix	brain
45	chr12:120532400-120538000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr12:120532400-120538400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr12:120532400-120539000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr12:120532400-120539800	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:120532600-120537000	Strong transcription	Small Intestine	intestine
50	chr12:120532600-120538000	Strong transcription	Duodenum Smooth Muscle	Duodenum

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