Variant report

Variant	rs7572117
Chromosome Location	chr2:235155677-235155678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs12465474	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34795266	0.99[ASN][1000 genomes]
rs60055447	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61059868	1.00[EUR][1000 genomes];0.98[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	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription 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	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv834572	chr2:235146304-235333842	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235145200-235156000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:235149400-235171600	Enhancers	HMEC	breast
3	chr2:235150800-235156000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:235151000-235156400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:235151200-235156000	Enhancers	NHEK	skin
6	chr2:235151400-235158200	Weak transcription	Hela-S3	cervix
7	chr2:235151400-235158400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:235152400-235156200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:235152600-235171800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:235152800-235156000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:235153200-235156000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr2:235154000-235156600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:235154200-235156000	Enhancers	NHLF	lung
14	chr2:235154200-235163800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:235154400-235157000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:235154600-235155800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:235154600-235158000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:235154600-235158200	Weak transcription	Esophagus	oesophagus
19	chr2:235154800-235155800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:235154800-235156400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:235154800-235157800	Weak transcription	HSMMtube	muscle
22	chr2:235154800-235159800	Weak transcription	Pancreas	Pancrea
23	chr2:235155000-235157800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:235155000-235160000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:235155200-235158200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:235155400-235156400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:235155400-235157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:235155400-235157800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:235155400-235158000	Weak transcription	NHDF-Ad	bronchial
30	chr2:235155400-235158000	Weak transcription	Osteobl	bone
31	chr2:235155400-235162600	Weak transcription	Dnd41	blood
32	chr2:235155600-235157200	Weak transcription	A549	lung
33	chr2:235155600-235157600	Weak transcription	NH-A	brain
34	chr2:235155600-235157800	Weak transcription	HUVEC	blood vessel

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