Variant report

Variant	rs17035671
Chromosome Location	chr2:47028639-47028640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47027359..47029514-chr2:47035848..47037953,2	K562	blood:
2	chr2:47023110..47025675-chr2:47027634..47029876,2	K562	blood:
3	chr2:46993693..46996690-chr2:47027722..47029756,2	MCF-7	breast:
4	chr2:47027472..47029514-chr2:47036453..47038625,2	K562	blood:
5	chr2:47000943..47003874-chr2:47028312..47030730,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56313712	1.00[AMR][1000 genomes]
rs56980653	1.00[AMR][1000 genomes]
rs58579326	1.00[AMR][1000 genomes]
rs60145642	1.00[AMR][1000 genomes]
rs6544937	1.00[AMR][1000 genomes]
rs73926559	1.00[AMR][1000 genomes]
rs73926560	1.00[AMR][1000 genomes]
rs73926563	1.00[AMR][1000 genomes]
rs73926979	1.00[AMR][1000 genomes]
rs7568621	1.00[AMR][1000 genomes]
rs9967864	1.00[AMR][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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47019400-47029200	Weak transcription	Aorta	Aorta
2	chr2:47021400-47032600	Weak transcription	Pancreas	Pancrea
3	chr2:47022200-47031000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:47024600-47029200	Weak transcription	Lung	lung
5	chr2:47025000-47034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:47025200-47029200	Weak transcription	Right Atrium	heart
7	chr2:47025200-47029400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:47025400-47029000	Weak transcription	Right Ventricle	heart
9	chr2:47025600-47029200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:47026200-47029000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:47026600-47038800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr2:47027000-47029200	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:47027200-47029000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:47027200-47030200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:47027200-47034800	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:47027400-47028800	Enhancers	Adipose Nuclei	Adipose
17	chr2:47027400-47031000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:47027400-47032400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:47027400-47034400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:47027600-47028800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:47027600-47034400	Enhancers	HMEC	breast
22	chr2:47027800-47030200	Enhancers	NHDF-Ad	bronchial
23	chr2:47027800-47031200	Weak transcription	A549	lung
24	chr2:47027800-47031400	Enhancers	HSMMtube	muscle
25	chr2:47028000-47029600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr2:47028000-47031400	Enhancers	Left Ventricle	heart
27	chr2:47028200-47029200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:47028200-47029400	Genic enhancers	NHLF	lung
29	chr2:47028400-47028800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:47028400-47029800	Enhancers	Spleen	Spleen
31	chr2:47028600-47029200	Enhancers	Fetal Brain Female	brain
32	chr2:47028600-47030000	Genic enhancers	Osteobl	bone
33	chr2:47028600-47031200	Weak transcription	Esophagus	oesophagus
34	chr2:47028600-47033000	Enhancers	HSMM	muscle
35	chr2:47028600-47034400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:47028600-47034400	Enhancers	NH-A	brain

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