Variant report

Variant	rs12614568
Chromosome Location	chr2:189896393-189896394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12621913	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2882732	1.00[ASW][hapmap];0.88[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4128539	1.00[CHB][hapmap]
rs73036538	1.00[EUR][1000 genomes]
rs73978847	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978877	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189876200-189898600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:189877400-189897400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:189885200-189898800	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:189887600-189897400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:189888000-189902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:189888000-189917400	Weak transcription	Ovary	ovary
7	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
8	chr2:189890400-189898600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:189890400-189898800	Weak transcription	Aorta	Aorta
10	chr2:189890400-189899400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:189890400-189902800	Weak transcription	Fetal Stomach	stomach
12	chr2:189891600-189913600	Weak transcription	Fetal Kidney	kidney
13	chr2:189892000-189904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:189892600-189897000	Weak transcription	HUVEC	blood vessel
15	chr2:189892800-189897000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:189893200-189896800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:189893600-189916200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr2:189894000-189898600	Weak transcription	Liver	Liver
20	chr2:189894000-189913800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:189894600-189896600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:189894600-189903800	Weak transcription	Placenta	Placenta
23	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
24	chr2:189894800-189898400	Weak transcription	Fetal Intestine Large	intestine
25	chr2:189895000-189902000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:189895000-189902000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr2:189895000-189902200	Strong transcription	Osteobl	bone
28	chr2:189895200-189899800	Strong transcription	A549	lung
29	chr2:189895200-189900000	Strong transcription	Adipose Nuclei	Adipose
30	chr2:189895200-189900200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:189895200-189901600	Strong transcription	NHDF-Ad	bronchial
32	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:189895200-189902200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:189895200-189909000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:189895200-189940800	Strong transcription	HSMM	muscle
37	chr2:189895400-189902200	Strong transcription	NH-A	brain
38	chr2:189895600-189898400	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:189895600-189899800	Strong transcription	HSMMtube	muscle
40	chr2:189895600-189900000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr2:189895600-189900000	Strong transcription	NHLF	lung
42	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:189895800-189896600	Strong transcription	Fetal Muscle Leg	muscle
44	chr2:189895800-189899200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:189895800-189899800	Strong transcription	Fetal Lung	lung
46	chr2:189895800-189903000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:189896000-189907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:189896200-189896400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart

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