Variant report

Variant	rs8176569
Chromosome Location	chr2:188337304-188337305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs57141637	1.00[AFR][1000 genomes]
rs7595610	1.00[AFR][1000 genomes]
rs7600472	1.00[AFR][1000 genomes]
rs7600570	1.00[AFR][1000 genomes]
rs8176430	0.84[AFR][1000 genomes]
rs8176455	1.00[AFR][1000 genomes]
rs8176460	1.00[AFR][1000 genomes]
rs8176485	1.00[AFR][1000 genomes]
rs8176493	1.00[AFR][1000 genomes]
rs8176499	1.00[AFR][1000 genomes]
rs8176564	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176575	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv834487	chr2:188182556-188353363	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv1011800	chr2:188301324-188340396	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
18	nsv875569	chr2:188327904-188341047	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
19	nsv875570	chr2:188330682-188340335	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
20	nsv875571	chr2:188330682-188341047	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
21	nsv875572	chr2:188330682-188355835	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases
22	nsv875573	chr2:188331704-188343131	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv875574	chr2:188333064-188341047	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188313400-188340000	Weak transcription	Fetal Brain Male	brain
2	chr2:188326800-188341800	Weak transcription	Adipose Nuclei	Adipose
3	chr2:188326800-188353600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:188326800-188357600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr2:188326800-188357800	Weak transcription	Lung	lung
6	chr2:188327000-188337400	Weak transcription	Pancreas	Pancrea
7	chr2:188327000-188339200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:188327000-188357800	Weak transcription	Left Ventricle	heart
9	chr2:188327200-188357600	Weak transcription	Fetal Intestine Large	intestine
10	chr2:188327400-188339000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr2:188327600-188341200	Weak transcription	NHDF-Ad	bronchial
12	chr2:188328200-188342200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:188328200-188357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
15	chr2:188328400-188341800	Weak transcription	NHLF	lung
16	chr2:188328400-188343400	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:188328600-188357200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:188328800-188342000	Weak transcription	HSMMtube	muscle
20	chr2:188328800-188343000	Weak transcription	Fetal Stomach	stomach
21	chr2:188329000-188341800	Strong transcription	HSMM	muscle
22	chr2:188329000-188358000	Weak transcription	K562	blood
23	chr2:188329200-188340200	Weak transcription	Hela-S3	cervix
24	chr2:188329200-188347800	Strong transcription	Liver	Liver
25	chr2:188329800-188338600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:188330200-188337400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:188330600-188344400	Weak transcription	Fetal Lung	lung
28	chr2:188332000-188340200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:188332800-188357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr2:188333600-188337400	Weak transcription	Osteobl	bone
31	chr2:188333600-188341200	Weak transcription	NH-A	brain
32	chr2:188334000-188339600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:188334600-188348200	Weak transcription	A549	lung
35	chr2:188335000-188342200	Weak transcription	Small Intestine	intestine
36	chr2:188335200-188337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:188335200-188340200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:188335600-188337400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:188335600-188341800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:188335800-188337400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:188335800-188337400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:188336000-188337800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:188336800-188344200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:188336800-188345800	Strong transcription	HUVEC	blood vessel
45	chr2:188337200-188339200	Strong transcription	Placenta	Placenta
46	chr2:188337200-188342200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr2:188337200-188354000	Strong transcription	HepG2	liver

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