Variant report

Variant	rs11610462
Chromosome Location	chr12:105089529-105089530
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105083736..105085852-chr12:105089088..105090777,2	K562	blood:
2	chr12:105080176..105082660-chr12:105088198..105091066,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10861270	1.00[ASW][hapmap];0.90[CEU][hapmap];0.89[CHB][hapmap];0.83[CHD][hapmap];0.83[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11112173	0.90[CHB][hapmap]
rs1494100	0.86[EUR][1000 genomes]
rs312141	0.95[CEU][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105067800-105096000	Weak transcription	K562	blood
2	chr12:105080400-105131800	Weak transcription	NHEK	skin
3	chr12:105083600-105091000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:105083600-105103600	Weak transcription	Placenta	Placenta
5	chr12:105085000-105090000	Enhancers	Spleen	Spleen
6	chr12:105085000-105097800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:105085600-105090200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:105085800-105090000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:105085800-105090000	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr12:105085800-105090200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr12:105086000-105089600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:105086200-105090200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:105086200-105096200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:105086400-105095600	Weak transcription	Fetal Heart	heart
15	chr12:105086400-105104400	Weak transcription	A549	lung
16	chr12:105086600-105091000	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:105086800-105103200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:105087000-105089600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:105087000-105090000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr12:105087000-105090200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:105087200-105090200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:105087400-105089600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:105087400-105090000	Enhancers	Primary T cells from cord blood	blood
24	chr12:105087800-105089600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:105087800-105089800	Enhancers	Right Atrium	heart
26	chr12:105087800-105090200	Enhancers	NH-A	brain
27	chr12:105087800-105090200	Enhancers	NHLF	lung
28	chr12:105087800-105090200	Enhancers	Osteobl	bone
29	chr12:105087800-105090400	Enhancers	Fetal Thymus	thymus
30	chr12:105087800-105090600	Enhancers	Primary hematopoietic stem cells	blood
31	chr12:105087800-105093800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr12:105087800-105094600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:105087800-105095600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr12:105087800-105096200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr12:105088000-105090000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:105088000-105090000	Enhancers	Adipose Nuclei	Adipose
37	chr12:105088000-105090000	Enhancers	Fetal Muscle Trunk	muscle
38	chr12:105088000-105090000	Enhancers	Thymus	Thymus
39	chr12:105088000-105090000	Enhancers	HUVEC	blood vessel
40	chr12:105088000-105090200	Enhancers	NHDF-Ad	bronchial
41	chr12:105088200-105089600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:105088200-105090000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:105088200-105090000	Enhancers	Brain Hippocampus Middle	brain
44	chr12:105088400-105089600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr12:105088400-105090000	Enhancers	Fetal Lung	lung
46	chr12:105088400-105090000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr12:105088400-105090200	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:105088600-105089800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:105088600-105090000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:105088600-105090000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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