Variant report

Variant	rs12693525
Chromosome Location	chr2:189857993-189857994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13306261	0.84[EUR][1000 genomes]
rs13306272	0.84[EUR][1000 genomes]
rs16830973	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17292943	0.88[EUR][1000 genomes]
rs17358825	0.88[EUR][1000 genomes]
rs1800255	0.81[EUR][1000 genomes]
rs1801184	0.83[YRI][hapmap]
rs1914037	0.81[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2203601	0.83[CHD][hapmap]
rs2271682	0.88[YRI][hapmap]
rs2351420	0.84[EUR][1000 genomes]
rs3106796	0.86[CHD][hapmap]
rs3736487	0.85[EUR][1000 genomes]
rs3736489	0.81[EUR][1000 genomes]
rs41263753	0.84[EUR][1000 genomes]
rs41265557	0.88[EUR][1000 genomes]
rs62181727	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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:46 , 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	chr2:189847600-189879200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:189847800-189858600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:189848200-189858000	Weak transcription	Aorta	Aorta
12	chr2:189849400-189877600	Strong transcription	Placenta	Placenta
13	chr2:189849600-189876200	Strong transcription	Stomach Smooth Muscle	stomach
14	chr2:189849800-189871000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:189850000-189865000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:189850400-189877200	Weak transcription	Right Ventricle	heart
17	chr2:189851800-189859000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:189851800-189862200	Strong transcription	Osteobl	bone
19	chr2:189851800-189863400	Strong transcription	NHDF-Ad	bronchial
20	chr2:189851800-189863800	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr2:189851800-189877200	Strong transcription	Colon Smooth Muscle	Colon
22	chr2:189851800-189878000	Strong transcription	HSMM	muscle
23	chr2:189852000-189862000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:189852000-189877400	Strong transcription	Adipose Nuclei	Adipose
25	chr2:189852200-189858800	Strong transcription	Fetal Muscle Leg	muscle
26	chr2:189852200-189865800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr2:189853200-189874800	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:189853800-189875200	Strong transcription	NHLF	lung
29	chr2:189854000-189878200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:189854200-189876800	Strong transcription	Fetal Lung	lung
31	chr2:189854400-189858800	Strong transcription	Fetal Muscle Trunk	muscle
32	chr2:189854600-189865200	Strong transcription	HSMMtube	muscle
33	chr2:189855600-189872800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:189856000-189865000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:189856200-189865000	Strong transcription	Fetal Stomach	stomach
36	chr2:189856200-189874200	Strong transcription	Ovary	ovary
37	chr2:189856400-189859400	Strong transcription	Fetal Intestine Large	intestine
38	chr2:189856600-189870600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr2:189856800-189859000	Strong transcription	Fetal Kidney	kidney
40	chr2:189856800-189875400	Weak transcription	Spleen	Spleen
41	chr2:189857000-189861400	Strong transcription	NH-A	brain
42	chr2:189857200-189859600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:189857200-189875200	Weak transcription	Small Intestine	intestine
44	chr2:189857400-189867800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:189857600-189858200	Strong transcription	Rectal Smooth Muscle	rectum
46	chr2:189857800-189858200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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