Variant report

Variant	rs8176462
Chromosome Location	chr2:188359207-188359208
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:188353320..188355812-chr2:188357936..188360335,2	K562	blood:
2	chr2:188357631..188360109-chr2:188416571..188419055,2	K562	blood:

Variant related genes	Relation type
ENSG00000224063	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6708963	1.00[AMR][1000 genomes]
rs8176439	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176471	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8176557	1.00[AMR][1000 genomes]
rs8176559	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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
19	nsv997899	chr2:188356689-188531831	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188328200-188360000	Weak transcription	Psoas Muscle	Psoas
2	chr2:188328400-188365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:188334200-188374600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:188342800-188362400	Strong transcription	HSMM	muscle
5	chr2:188347000-188360200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:188349000-188361000	Weak transcription	NH-A	brain
7	chr2:188349000-188366600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:188349600-188359600	Weak transcription	NHLF	lung
9	chr2:188350600-188370000	Weak transcription	Small Intestine	intestine
10	chr2:188354200-188360000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:188355200-188360000	Weak transcription	NHDF-Ad	bronchial
12	chr2:188355400-188362400	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr2:188355800-188362200	Strong transcription	Liver	Liver
14	chr2:188356000-188361200	Strong transcription	Fetal Lung	lung
15	chr2:188356400-188359600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:188356400-188374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:188356600-188359400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr2:188356600-188365400	Strong transcription	HepG2	liver
19	chr2:188357200-188359400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr2:188357200-188359600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr2:188357200-188360600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:188357200-188361200	Strong transcription	Fetal Muscle Trunk	muscle
23	chr2:188357600-188360600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:188357600-188360600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:188357600-188360600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr2:188357600-188361800	Strong transcription	Fetal Intestine Large	intestine
27	chr2:188357600-188365400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:188357800-188360200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:188357800-188360600	Strong transcription	HSMMtube	muscle
30	chr2:188357800-188361800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:188357800-188362000	Strong transcription	Placenta	Placenta
32	chr2:188358200-188359800	Weak transcription	Right Ventricle	heart
33	chr2:188358200-188360600	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:188358200-188361800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:188358200-188362000	Strong transcription	Osteobl	bone
36	chr2:188358200-188362400	Weak transcription	Left Ventricle	heart
37	chr2:188358200-188370000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:188358400-188359400	Weak transcription	K562	blood
39	chr2:188358400-188360600	Strong transcription	Duodenum Mucosa	Duodenum
40	chr2:188358400-188374600	Weak transcription	Fetal Thymus	thymus
41	chr2:188358600-188359800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:188358600-188362200	Strong transcription	HUVEC	blood vessel
43	chr2:188359000-188359800	Weak transcription	A549	lung
44	chr2:188359000-188360000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:188359000-188366800	Weak transcription	Fetal Stomach	stomach
46	chr2:188359200-188359400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:188359200-188360000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:188359200-188360600	Strong transcription	Hela-S3	cervix
49	chr2:188359200-188361000	Weak transcription	Fetal Kidney	kidney
50	chr2:188359200-188361800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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