Variant report

Variant	rs72621656
Chromosome Location	chr2:153360394-153360395
allele	G/T
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:2)

rs_ID	r²[population]
rs12468231	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16831125	0.83[AMR][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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153343000-153360600	Enhancers	Brain Anterior Caudate	brain
2	chr2:153348800-153370200	Weak transcription	Aorta	Aorta
3	chr2:153350800-153360400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:153351400-153361000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:153354400-153361000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:153354600-153360600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:153354600-153361000	Weak transcription	NHLF	lung
8	chr2:153354600-153364600	Weak transcription	Left Ventricle	heart
9	chr2:153354600-153365200	Weak transcription	Pancreas	Pancrea
10	chr2:153354800-153362000	Weak transcription	Fetal Heart	heart
11	chr2:153355600-153362400	Enhancers	Fetal Brain Male	brain
12	chr2:153356000-153364600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:153356400-153361200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:153356400-153363000	Weak transcription	Small Intestine	intestine
15	chr2:153356600-153361000	Weak transcription	NH-A	brain
16	chr2:153356600-153361200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:153356600-153361400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:153356600-153362000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:153356800-153361000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:153356800-153361000	Weak transcription	HSMMtube	muscle
21	chr2:153356800-153361000	Weak transcription	Osteobl	bone
22	chr2:153356800-153364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:153356800-153365000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:153357000-153361200	Weak transcription	NHDF-Ad	bronchial
25	chr2:153357000-153362000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:153357000-153364800	Weak transcription	Fetal Lung	lung
27	chr2:153357200-153360400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:153357200-153361400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:153357200-153365000	Weak transcription	Fetal Stomach	stomach
30	chr2:153357400-153361400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:153357400-153364600	Weak transcription	Psoas Muscle	Psoas
32	chr2:153357400-153375200	Weak transcription	Right Atrium	heart
33	chr2:153357600-153360600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:153357600-153360800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr2:153357600-153365000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:153357600-153365200	Weak transcription	Fetal Muscle Leg	muscle
37	chr2:153357800-153362000	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:153358000-153361200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:153358200-153361000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:153358200-153361200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:153358200-153361200	Weak transcription	Adipose Nuclei	Adipose
42	chr2:153358200-153361200	Weak transcription	Ovary	ovary
43	chr2:153358200-153361400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:153358200-153364600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:153358200-153365000	Weak transcription	Fetal Brain Female	brain
46	chr2:153358400-153361000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:153358600-153361200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:153358600-153361200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:153358600-153362200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:153359200-153361200	Enhancers	A549	lung

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