Variant report

Variant	rs11173108
Chromosome Location	chr12:60053770-60053771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1027477	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs10506397	0.94[CHB][hapmap]
rs10877321	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10877323	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877324	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173101	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17122696	1.00[CHB][hapmap]
rs17122765	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs17122775	1.00[CHB][hapmap]
rs4304824	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7965740	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs982322	0.87[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[EUR][1000 genomes];0.95[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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60013600-60055400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:60026600-60089200	Weak transcription	Gastric	stomach
3	chr12:60029600-60063200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:60034000-60061600	Weak transcription	Aorta	Aorta
5	chr12:60040600-60054000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:60040800-60054000	Weak transcription	Fetal Thymus	thymus
7	chr12:60043400-60054000	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:60044600-60054600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:60044800-60055000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:60045000-60058400	Weak transcription	Left Ventricle	heart
11	chr12:60045600-60061600	Weak transcription	Pancreas	Pancrea
12	chr12:60045600-60071800	Weak transcription	Ovary	ovary
13	chr12:60045800-60054400	Weak transcription	Osteobl	bone
14	chr12:60045800-60085400	Weak transcription	NHDF-Ad	bronchial
15	chr12:60045800-60099800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:60046400-60054800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:60046600-60058000	Weak transcription	Adipose Nuclei	Adipose
18	chr12:60048800-60056200	Weak transcription	GM12878-XiMat	blood
19	chr12:60048800-60058400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:60050000-60068600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:60050200-60054000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:60050400-60054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:60050400-60060200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:60050400-60060400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:60050600-60060200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:60050600-60060400	Weak transcription	Primary T cells from cord blood	blood
27	chr12:60050600-60060600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr12:60050800-60060400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:60050800-60098600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:60051400-60055200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:60051600-60058000	Weak transcription	Fetal Heart	heart
32	chr12:60051800-60060000	Weak transcription	Primary B cells from cord blood	blood
33	chr12:60052200-60058000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:60052200-60060400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:60052600-60054400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr12:60052600-60055000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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