Variant report

Variant	rs11051866
Chromosome Location	chr12:32390061-32390062
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:7)

rs_ID	r²[population]
rs12297959	0.82[AMR][1000 genomes]
rs55766406	1.00[ASN][1000 genomes]
rs56007954	1.00[ASN][1000 genomes]
rs56075891	1.00[ASN][1000 genomes]
rs56235810	1.00[ASN][1000 genomes]
rs56254678	1.00[ASN][1000 genomes]
rs7134330	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv541454	chr12:32371080-32401245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32365000-32390200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:32365600-32391200	Weak transcription	Fetal Brain Male	brain
3	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
4	chr12:32371000-32390200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:32371200-32390200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:32371200-32393200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:32371200-32393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:32371200-32406800	Weak transcription	Primary T cells from cord blood	blood
9	chr12:32371600-32393000	Weak transcription	NH-A	brain
10	chr12:32371600-32393400	Weak transcription	NHDF-Ad	bronchial
11	chr12:32377400-32390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:32377600-32390200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:32380000-32401000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:32380600-32393200	Weak transcription	Spleen	Spleen
15	chr12:32380800-32390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:32381200-32390200	Weak transcription	Primary B cells from cord blood	blood
17	chr12:32381200-32392800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:32381600-32390200	Weak transcription	Osteobl	bone
19	chr12:32383800-32390200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:32386800-32394000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:32387000-32390200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:32388200-32390200	Weak transcription	Brain Anterior Caudate	brain
23	chr12:32388200-32390600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:32388200-32390600	Weak transcription	Colon Smooth Muscle	Colon
25	chr12:32388400-32390200	Weak transcription	Brain Angular Gyrus	brain
26	chr12:32388600-32390200	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:32389200-32391000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
28	chr12:32389400-32390600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
29	chr12:32389400-32390600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
30	chr12:32389400-32390600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:32389400-32390800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:32389400-32391000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:32389400-32391000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr12:32389400-32391200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:32389600-32390600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr12:32389600-32390600	Strong transcription	Dnd41	blood
37	chr12:32389600-32391000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:32389600-32391600	Strong transcription	HSMM	muscle
39	chr12:32390000-32390200	ZNF genes & repeats	Left Ventricle	heart
40	chr12:32390000-32390400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
41	chr12:32390000-32390400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr12:32390000-32390400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:32390000-32390600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr12:32390000-32390600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr12:32390000-32390600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:32390000-32390600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:32390000-32390600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
48	chr12:32390000-32390600	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr12:32390000-32390600	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr12:32390000-32390600	ZNF genes & repeats	Fetal Muscle Leg	muscle

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