Variant report

Variant	rs8176482
Chromosome Location	chr2:188356614-188356615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188351020..188353616-chr2:188354924..188357575,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10201169	0.89[ASN][1000 genomes]
rs12612748	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12616095	0.81[ASN][1000 genomes]
rs12618708	0.89[ASN][1000 genomes]
rs12622831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427934	0.83[ASN][1000 genomes]
rs13432763	0.89[ASN][1000 genomes]
rs1861309	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3771070	0.84[EUR][1000 genomes]
rs3771071	0.84[EUR][1000 genomes]
rs3771072	0.80[EUR][1000 genomes]
rs55881028	0.81[ASN][1000 genomes]
rs6731106	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6737903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6760862	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73981578	0.84[EUR][1000 genomes]
rs7565807	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7595810	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176418	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176420	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8176444	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176490	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176497	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176565	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176594	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8176606	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176608	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176611	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176616	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176622	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8176625	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949700	chr2:187713412-188361211	Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv875557	chr2:188219052-188370232	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv875558	chr2:188219052-188388311	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv875559	chr2:188219052-188390112	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv875560	chr2:188219052-188508011	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv875561	chr2:188226900-188440752	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv584036	chr2:188256158-188369841	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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 target site	4 gene(s)	inside rSNPs	diseases
8	nsv875562	chr2:188258904-188370232	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv875563	chr2:188258904-188388311	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv875564	chr2:188258904-188414161	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv875565	chr2:188258904-188440752	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
12	nsv875566	chr2:188258904-188626214	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
13	nsv875567	chr2:188258904-188673462	Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Enhancers 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	8 gene(s)	inside rSNPs	diseases
14	nsv834488	chr2:188268434-188415496	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv875568	chr2:188291105-188653806	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv875576	chr2:188343497-188482933	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv875577	chr2:188343497-188500930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv875578	chr2:188343497-188690187	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188326800-188357600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:188326800-188357800	Weak transcription	Lung	lung
3	chr2:188327000-188357800	Weak transcription	Left Ventricle	heart
4	chr2:188327200-188357600	Weak transcription	Fetal Intestine Large	intestine
5	chr2:188328200-188357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
7	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:188328600-188357200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:188329000-188358000	Weak transcription	K562	blood
10	chr2:188332800-188357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:188339800-188357600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:188341200-188357200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr2:188342800-188357200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:188342800-188362400	Strong transcription	HSMM	muscle
16	chr2:188343800-188357600	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:188347000-188360200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:188349000-188357200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:188349000-188361000	Weak transcription	NH-A	brain
20	chr2:188349000-188366600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:188349200-188357800	Weak transcription	HSMMtube	muscle
22	chr2:188349200-188359200	Weak transcription	Hela-S3	cervix
23	chr2:188349600-188357000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:188349600-188357200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:188349600-188359600	Weak transcription	NHLF	lung
26	chr2:188349800-188357800	Weak transcription	Placenta	Placenta
27	chr2:188350200-188357800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:188350600-188370000	Weak transcription	Small Intestine	intestine
29	chr2:188352400-188357600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:188354000-188358000	Weak transcription	Ovary	ovary
31	chr2:188354200-188358200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:188354200-188360000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:188355000-188357800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:188355000-188357800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:188355200-188358200	Weak transcription	Osteobl	bone
36	chr2:188355200-188360000	Weak transcription	NHDF-Ad	bronchial
37	chr2:188355400-188357200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:188355400-188362400	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr2:188355600-188358000	Strong transcription	HUVEC	blood vessel
40	chr2:188355800-188362200	Strong transcription	Liver	Liver
41	chr2:188356000-188361200	Strong transcription	Fetal Lung	lung
42	chr2:188356200-188357600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:188356400-188359000	Strong transcription	A549	lung
44	chr2:188356400-188359200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
45	chr2:188356400-188359600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:188356400-188374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr2:188356600-188359400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr2:188356600-188365400	Strong transcription	HepG2	liver

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