Variant report

Variant	rs11050435
Chromosome Location	chr12:29949943-29949944
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16934981	1.00[ASN][1000 genomes]
rs7136365	1.00[ASN][1000 genomes]
rs7296391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv898953	chr12:29905322-29989292	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv469191	chr12:29939628-30098770	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv557958	chr12:29939628-30098770	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv557959	chr12:29944670-29959697	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29946400-29953200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:29947000-29950800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:29947200-29950600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:29947200-29950600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:29947200-29950600	Weak transcription	Spleen	Spleen
6	chr12:29947600-29950400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:29947600-29950800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:29947600-29951200	Enhancers	Hela-S3	cervix
9	chr12:29947600-29951400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr12:29947800-29951200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:29947800-29951600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr12:29948000-29951600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:29948400-29950800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:29948400-29950800	Enhancers	Fetal Lung	lung
15	chr12:29948600-29950000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:29948600-29950600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:29948600-29951000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:29948600-29952800	Enhancers	Colon Smooth Muscle	Colon
19	chr12:29948800-29950200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:29948800-29950800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr12:29948800-29950800	Enhancers	NHDF-Ad	bronchial
22	chr12:29949200-29950600	Enhancers	NHLF	lung
23	chr12:29949200-29950800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:29949200-29950800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr12:29949200-29950800	Enhancers	HSMMtube	muscle
26	chr12:29949400-29950000	Enhancers	Fetal Kidney	kidney
27	chr12:29949400-29950000	Enhancers	Osteobl	bone
28	chr12:29949400-29950200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:29949400-29950400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:29949400-29950400	Enhancers	NH-A	brain
31	chr12:29949400-29950600	Enhancers	NHEK	skin
32	chr12:29949400-29950800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:29949400-29950800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:29949400-29950800	Enhancers	HMEC	breast
35	chr12:29949400-29950800	Enhancers	HSMM	muscle
36	chr12:29949400-29951000	Enhancers	Fetal Stomach	stomach
37	chr12:29949400-29952000	Enhancers	Rectal Smooth Muscle	rectum
38	chr12:29949400-29952800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:29949600-29950200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr12:29949600-29950400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:29949600-29950600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:29949600-29950600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:29949600-29950800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr12:29949800-29950200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr12:29949800-29950200	Enhancers	Adipose Nuclei	Adipose
46	chr12:29949800-29950200	Active TSS	Stomach Smooth Muscle	stomach
47	chr12:29949800-29950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:29949800-29950800	Enhancers	Skeletal Muscle Male	skeletal muscle

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