Variant report

Variant	rs7132099
Chromosome Location	chr12:120521711-120521712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120463438..120466010-chr12:120520839..120524838,3	K562	blood:
2	chr12:120520820..120522899-chr12:120549617..120551295,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1054631	0.89[ASN][1000 genomes]
rs16949854	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16949862	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16949870	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16949914	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2286041	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28613380	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56105460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56152568	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56939014	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs57155388	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57339959	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57458743	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59868595	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59911114	0.93[EUR][1000 genomes]
rs60106911	0.89[ASN][1000 genomes]
rs60223336	0.89[ASN][1000 genomes]
rs60590470	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60742518	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61514727	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6490279	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6490282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7139151	0.89[ASN][1000 genomes]
rs7297564	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7298081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7304560	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7956221	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7957325	1.00[AMR][1000 genomes];0.85[EUR][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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120493800-120523800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:120502000-120523400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:120502400-120523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:120502400-120523400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:120502400-120524400	Weak transcription	Fetal Intestine Small	intestine
6	chr12:120502600-120524400	Weak transcription	Brain Anterior Caudate	brain
7	chr12:120502600-120525200	Weak transcription	Spleen	Spleen
8	chr12:120509800-120524600	Weak transcription	Pancreas	Pancrea
9	chr12:120510000-120524600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:120510200-120523000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:120510600-120524600	Weak transcription	Brain Germinal Matrix	brain
12	chr12:120511600-120523200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr12:120512800-120524400	Weak transcription	Brain Angular Gyrus	brain
14	chr12:120513400-120524200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:120513800-120524400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:120514200-120523600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:120514800-120524600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:120515000-120523200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:120516800-120524600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:120517200-120524200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:120517200-120524600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:120517400-120523800	Strong transcription	Primary T cells from cord blood	blood
23	chr12:120517400-120524400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:120517800-120524400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:120518000-120524400	Weak transcription	HMEC	breast
26	chr12:120518200-120524600	Weak transcription	Fetal Thymus	thymus
27	chr12:120518200-120528600	Weak transcription	Gastric	stomach
28	chr12:120518400-120523800	Weak transcription	NHEK	skin
29	chr12:120518400-120524400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr12:120518600-120521800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:120518600-120523600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:120518600-120524200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:120518600-120524400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:120518600-120524600	Weak transcription	Esophagus	oesophagus
35	chr12:120518600-120524600	Weak transcription	Placenta	Placenta
36	chr12:120518600-120524600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr12:120518600-120525200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:120518800-120522800	Weak transcription	A549	lung
39	chr12:120518800-120523000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:120518800-120523400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr12:120518800-120523400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:120518800-120523800	Weak transcription	Hela-S3	cervix
43	chr12:120518800-120524400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:120518800-120524600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr12:120518800-120524600	Weak transcription	Fetal Brain Female	brain
46	chr12:120519800-120521800	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr12:120519800-120522400	Strong transcription	Thymus	Thymus
48	chr12:120520400-120524400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr12:120521200-120522800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:120521400-120523200	Weak transcription	Stomach Mucosa	stomach

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