Variant report

Variant	rs2711666
Chromosome Location	chr12:60132210-60132211
allele	C/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:21)

rs_ID	r²[population]
rs1000708	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[EUR][1000 genomes]
rs10437957	1.00[CEU][hapmap];0.95[CHB][hapmap];0.85[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11173156	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12232011	0.83[ASN][1000 genomes]
rs12298092	0.83[ASN][1000 genomes]
rs12426819	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1693596	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1693609	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1795884	0.83[YRI][hapmap]
rs1795886	0.96[CEU][hapmap];0.95[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2132872	0.91[CHB][hapmap];0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2464685	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2706285	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2706299	0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2706301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2711657	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2711668	0.84[YRI][hapmap]
rs4405356	0.96[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7298091	0.83[ASN][1000 genomes]
rs995343	0.81[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	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	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
3	nsv899132	chr12:60087572-60211476	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60099600-60143200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:60100000-60175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr12:60104200-60138000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:60110200-60141400	Weak transcription	Dnd41	blood
5	chr12:60113000-60143600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:60124000-60168800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:60126200-60138600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr12:60127800-60143000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:60127800-60143200	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:60128000-60139000	Weak transcription	Fetal Stomach	stomach
11	chr12:60128200-60133800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:60128200-60143000	Weak transcription	Gastric	stomach
13	chr12:60128400-60138000	Weak transcription	Esophagus	oesophagus
14	chr12:60128400-60138200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:60128400-60139000	Weak transcription	Fetal Thymus	thymus
16	chr12:60128400-60140000	Weak transcription	Thymus	Thymus
17	chr12:60129800-60132400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:60130200-60132400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:60130200-60132400	Enhancers	HMEC	breast
20	chr12:60130200-60132600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:60130600-60138800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:60130800-60142800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr12:60130800-60172200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:60131000-60135200	Weak transcription	Primary T cells from cord blood	blood
25	chr12:60131000-60135800	Weak transcription	Primary B cells from cord blood	blood
26	chr12:60131000-60135800	Weak transcription	Aorta	Aorta
27	chr12:60131000-60138000	Weak transcription	Fetal Heart	heart
28	chr12:60131000-60138000	Weak transcription	Left Ventricle	heart
29	chr12:60131000-60139000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:60131000-60186000	Weak transcription	Pancreas	Pancrea
31	chr12:60131400-60132400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:60131400-60132400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:60131400-60132600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:60131600-60132400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr12:60131600-60132400	Enhancers	Small Intestine	intestine
36	chr12:60131800-60132400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:60131800-60132400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:60131800-60132400	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr12:60131800-60135800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:60132000-60132400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:60132000-60132600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:60132200-60132400	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr12:60132200-60132400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:60132200-60132400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr12:60132200-60132400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:60132200-60132400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:60132200-60132400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:60132200-60132400	Flanking Active TSS	NHLF	lung
49	chr12:60132200-60132400	Flanking Active TSS	Osteobl	bone
50	chr12:60132200-60132600	Flanking Active TSS	NHDF-Ad	bronchial

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