Variant report

Variant	rs35349988
Chromosome Location	chr12:20660504-20660505
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:2)

rs_ID	r²[population]
rs12314434	0.87[EUR][1000 genomes]
rs73075173	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20647000-20660600	Weak transcription	Left Ventricle	heart
2	chr12:20647200-20664000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:20648200-20660800	Weak transcription	Aorta	Aorta
4	chr12:20649600-20660600	Weak transcription	Right Ventricle	heart
5	chr12:20649600-20662000	Weak transcription	Pancreas	Pancrea
6	chr12:20656800-20660600	Enhancers	A549	lung
7	chr12:20658200-20660600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:20658600-20660600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:20659600-20661000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:20659800-20660800	Enhancers	Primary hematopoietic stem cells	blood
11	chr12:20660000-20660800	Strong transcription	Fetal Intestine Large	intestine
12	chr12:20660000-20660800	Enhancers	Stomach Smooth Muscle	stomach
13	chr12:20660000-20661000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:20660000-20661200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:20660000-20661200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:20660000-20661400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:20660000-20665000	Strong transcription	Hela-S3	cervix
18	chr12:20660200-20660600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:20660200-20660800	Enhancers	Colon Smooth Muscle	Colon
20	chr12:20660200-20660800	Enhancers	Fetal Heart	heart
21	chr12:20660400-20661000	Enhancers	NH-A	brain
22	chr12:20660400-20661000	Enhancers	NHLF	lung
23	chr12:20660400-20661000	Flanking Active TSS	Osteobl	bone
24	chr12:20660400-20661200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr12:20660400-20661200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:20660400-20661200	Enhancers	NHDF-Ad	bronchial
27	chr12:20660400-20662200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:20660400-20664600	Weak transcription	Rectal Mucosa Donor 29	rectum

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