Variant report

Variant	rs567587574
Chromosome Location	chr2:189852188-189852189
allele	C/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	chr2:189851355-189852201	SK-N-SH	brain:	n/a	chr2:189852094-189852104 chr2:189852132-189852146
2	GATA3	chr2:189851161-189852225	SK-N-SH	brain:	n/a	n/a
3	EP300	chr2:189851242-189852553	SK-N-SH	brain:	n/a	chr2:189852094-189852104 chr2:189851297-189851307 chr2:189852132-189852146
4	GATA3	chr2:189851211-189852190	SK-N-SH	brain:	n/a	n/a
5	EP300	chr2:189851428-189852217	SK-N-SH	brain:	n/a	chr2:189852094-189852104 chr2:189852132-189852146
6	POLR2A	chr2:189852095-189853543	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189849262..189851265-chr2:189851542..189854419,2	MCF-7	breast:

Variant related genes	Relation type
COL3A1	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459992	chr2:189796272-189855943	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
2	nsv584057	chr2:189796272-189855943	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875609	chr2:189796272-189862097	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	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
5	nsv584058	chr2:189799499-189855943	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	esv1791841	chr2:189811074-189864582	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription 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
7	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
8	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
9	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
10	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
11	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
12	esv1827498	chr2:189851872-189855943	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189839400-189858000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189841400-189864000	Weak transcription	Left Ventricle	heart
3	chr2:189841800-189875200	Weak transcription	Colonic Mucosa	Colon
4	chr2:189842400-189866600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:189843400-189861800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:189843600-189874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:189844400-189866200	Weak transcription	Psoas Muscle	Psoas
8	chr2:189844600-189859000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:189844800-189857200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:189847600-189879200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:189847800-189858600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:189848200-189858000	Weak transcription	Aorta	Aorta
13	chr2:189849400-189852200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:189849400-189877600	Strong transcription	Placenta	Placenta
15	chr2:189849600-189876200	Strong transcription	Stomach Smooth Muscle	stomach
16	chr2:189849800-189852200	Genic enhancers	Muscle Satellite Cultured Cells	--
17	chr2:189849800-189853600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr2:189849800-189856200	Weak transcription	Fetal Stomach	stomach
19	chr2:189849800-189856400	Weak transcription	Fetal Intestine Large	intestine
20	chr2:189849800-189871000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr2:189850000-189854200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:189850000-189854400	Weak transcription	NH-A	brain
23	chr2:189850000-189865000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:189850200-189853000	Strong transcription	NHLF	lung
25	chr2:189850400-189853400	Strong transcription	Ovary	ovary
26	chr2:189850400-189877200	Weak transcription	Right Ventricle	heart
27	chr2:189850600-189852200	Weak transcription	Fetal Muscle Leg	muscle
28	chr2:189851000-189853400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:189851600-189852600	Genic enhancers	Rectal Smooth Muscle	rectum
30	chr2:189851800-189852400	Weak transcription	HSMMtube	muscle
31	chr2:189851800-189852800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr2:189851800-189859000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:189851800-189862200	Strong transcription	Osteobl	bone
34	chr2:189851800-189863400	Strong transcription	NHDF-Ad	bronchial
35	chr2:189851800-189863800	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr2:189851800-189877200	Strong transcription	Colon Smooth Muscle	Colon
37	chr2:189851800-189878000	Strong transcription	HSMM	muscle
38	chr2:189852000-189853400	Strong transcription	Fetal Lung	lung
39	chr2:189852000-189856800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:189852000-189856800	Weak transcription	Fetal Kidney	kidney
41	chr2:189852000-189862000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:189852000-189877400	Strong transcription	Adipose Nuclei	Adipose

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