Variant report

Variant	rs11613000
Chromosome Location	chr12:12160283-12160284
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11611671	1.00[ASN][1000 genomes]
rs11612107	0.83[EUR][1000 genomes]
rs11612467	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11613729	1.00[ASN][1000 genomes]
rs11614162	1.00[ASN][1000 genomes]
rs11615635	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12578240	1.00[ASN][1000 genomes]
rs12578251	1.00[ASN][1000 genomes]
rs35627472	0.80[EUR][1000 genomes]
rs56125121	0.91[EUR][1000 genomes]
rs73058013	0.80[EUR][1000 genomes]
rs73058021	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73058025	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73060021	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060038	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060040	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060042	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73060051	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73060056	0.82[EUR][1000 genomes]
rs73060058	1.00[ASN][1000 genomes]
rs73062023	1.00[ASN][1000 genomes]
rs73062031	1.00[ASN][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12146800-12161600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12154600-12163200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr12:12157800-12160400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:12159200-12163000	Enhancers	GM12878-XiMat	blood
5	chr12:12159400-12160400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:12159400-12160800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:12159800-12160600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:12159800-12162800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:12159800-12162800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:12160000-12160400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:12160000-12160400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr12:12160000-12160400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:12160000-12160600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr12:12160000-12160600	Enhancers	HMEC	breast
15	chr12:12160000-12160800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:12160000-12160800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:12160000-12160800	Enhancers	Dnd41	blood
18	chr12:12160000-12162400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr12:12160000-12162600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr12:12160000-12163000	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:12160000-12163000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr12:12160000-12163200	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:12160000-12163200	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:12160200-12160400	Enhancers	Adipose Nuclei	Adipose
25	chr12:12160200-12160400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr12:12160200-12160600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:12160200-12160600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:12160200-12160600	Enhancers	Osteobl	bone
29	chr12:12160200-12161000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:12160200-12161200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr12:12160200-12161200	Enhancers	HSMM	muscle
32	chr12:12160200-12161800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr12:12160200-12162000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:12160200-12162400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr12:12160200-12163000	Enhancers	Primary B cells from cord blood	blood
36	chr12:12160200-12163000	Enhancers	Primary T cells from cord blood	blood
37	chr12:12160200-12163200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:12160200-12163200	Enhancers	Fetal Thymus	thymus
39	chr12:12160200-12163200	Enhancers	Thymus	Thymus
40	chr12:12160200-12164600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
41	chr12:12160200-12164600	Enhancers	NH-A	brain
42	chr12:12160200-12165400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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