Variant report

Variant	rs3134653
Chromosome Location	chr2:189864840-189864841
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr2:189864457-189864909	SK-N-SH_RA	brain:	n/a	n/a
2	POLR2A	chr2:189863715-189864943	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr2:189864448-189865535	SK-N-SH	brain:	n/a	chr2:189864650-189864659 chr2:189864647-189864657 chr2:189864650-189864657

Variant related genes	Relation type
COL3A1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1516446	1.00[AMR][1000 genomes]
rs3134654	1.00[AMR][1000 genomes]
rs6751373	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875610	chr2:189796272-189904674	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv533029	chr2:189812229-190554339	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv584059	chr2:189841052-189868381	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv875612	chr2:189841052-189878769	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv584060	chr2:189844000-189876138	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv584061	chr2:189844000-189878769	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	2 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	chr2:189841800-189875200	Weak transcription	Colonic Mucosa	Colon
2	chr2:189842400-189866600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:189843600-189874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:189844400-189866200	Weak transcription	Psoas Muscle	Psoas
5	chr2:189847600-189879200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:189849400-189877600	Strong transcription	Placenta	Placenta
7	chr2:189849600-189876200	Strong transcription	Stomach Smooth Muscle	stomach
8	chr2:189849800-189871000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:189850000-189865000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:189850400-189877200	Weak transcription	Right Ventricle	heart
11	chr2:189851800-189877200	Strong transcription	Colon Smooth Muscle	Colon
12	chr2:189851800-189878000	Strong transcription	HSMM	muscle
13	chr2:189852000-189877400	Strong transcription	Adipose Nuclei	Adipose
14	chr2:189852200-189865800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr2:189853200-189874800	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:189853800-189875200	Strong transcription	NHLF	lung
17	chr2:189854000-189878200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:189854200-189876800	Strong transcription	Fetal Lung	lung
19	chr2:189854600-189865200	Strong transcription	HSMMtube	muscle
20	chr2:189855600-189872800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:189856000-189865000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:189856200-189865000	Strong transcription	Fetal Stomach	stomach
23	chr2:189856200-189874200	Strong transcription	Ovary	ovary
24	chr2:189856600-189870600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr2:189856800-189875400	Weak transcription	Spleen	Spleen
26	chr2:189857200-189875200	Weak transcription	Small Intestine	intestine
27	chr2:189857400-189867800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:189859200-189868800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr2:189859600-189868600	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:189860600-189866800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr2:189861400-189866200	Weak transcription	NH-A	brain
32	chr2:189861400-189866600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:189862000-189868200	Weak transcription	Fetal Intestine Small	intestine
34	chr2:189862200-189866600	Genic enhancers	Osteobl	bone
35	chr2:189862400-189865000	Weak transcription	Fetal Intestine Large	intestine
36	chr2:189862400-189866200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:189862600-189866200	Weak transcription	A549	lung
38	chr2:189862800-189871200	Weak transcription	Fetal Kidney	kidney
39	chr2:189863200-189865600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:189863400-189865200	Genic enhancers	NHDF-Ad	bronchial
41	chr2:189863400-189867600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:189864000-189865600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:189864200-189871000	Weak transcription	Left Ventricle	heart
44	chr2:189864400-189867600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:189864400-189868600	Weak transcription	Aorta	Aorta
46	chr2:189864400-189877400	Strong transcription	Placenta Amnion	Placenta Amnion
47	chr2:189864600-189867800	Enhancers	Hela-S3	cervix
48	chr2:189864600-189868400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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