Variant report

Variant	rs7420715
Chromosome Location	chr2:189899572-189899573
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10165260	1.00[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10176287	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10176565	0.91[ASN][1000 genomes]
rs10194618	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11885919	0.93[ASN][1000 genomes]
rs11893117	0.93[ASN][1000 genomes]
rs11898277	0.93[ASN][1000 genomes]
rs12617111	0.93[ASN][1000 genomes]
rs13401146	0.93[ASN][1000 genomes]
rs28486035	0.93[ASN][1000 genomes]
rs28758810	0.93[ASN][1000 genomes]
rs3923384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4128538	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4128539	0.83[MEX][hapmap]
rs4666770	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434308	0.93[ASN][1000 genomes]
rs6434309	0.92[ASN][1000 genomes]
rs6434312	0.85[TSI][hapmap]
rs6434322	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[JPT][hapmap];0.94[MEX][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6717231	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750027	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6760780	0.93[ASN][1000 genomes]
rs7422106	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7422861	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7422977	0.93[ASN][1000 genomes]
rs7423494	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7424947	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7558610	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7562299	0.91[CHB][hapmap]
rs7565451	0.93[ASN][1000 genomes]
rs7573709	0.93[ASN][1000 genomes]
rs7576472	0.93[ASN][1000 genomes]
rs7576474	0.93[ASN][1000 genomes]
rs7587776	0.90[ASN][1000 genomes]
rs7591905	0.93[ASN][1000 genomes]
rs7592230	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7592439	1.00[CEU][hapmap];0.87[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189888000-189902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:189888000-189917400	Weak transcription	Ovary	ovary
3	chr2:189889800-189931000	Weak transcription	Esophagus	oesophagus
4	chr2:189890400-189902800	Weak transcription	Fetal Stomach	stomach
5	chr2:189891600-189913600	Weak transcription	Fetal Kidney	kidney
6	chr2:189892000-189904000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:189893200-189932600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:189893600-189916200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:189894000-189913800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr2:189894600-189903800	Weak transcription	Placenta	Placenta
11	chr2:189894600-189932800	Weak transcription	Right Ventricle	heart
12	chr2:189895000-189902000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:189895000-189902000	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr2:189895000-189902200	Strong transcription	Osteobl	bone
15	chr2:189895200-189899800	Strong transcription	A549	lung
16	chr2:189895200-189900000	Strong transcription	Adipose Nuclei	Adipose
17	chr2:189895200-189900200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:189895200-189901600	Strong transcription	NHDF-Ad	bronchial
19	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:189895200-189902000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:189895200-189902200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:189895200-189909000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:189895200-189940800	Strong transcription	HSMM	muscle
24	chr2:189895400-189902200	Strong transcription	NH-A	brain
25	chr2:189895600-189899800	Strong transcription	HSMMtube	muscle
26	chr2:189895600-189900000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr2:189895600-189900000	Strong transcription	NHLF	lung
28	chr2:189895600-189965200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:189895800-189899800	Strong transcription	Fetal Lung	lung
30	chr2:189895800-189903000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr2:189896000-189907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr2:189896200-189962400	Weak transcription	Left Ventricle	heart
33	chr2:189896400-189922600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:189896600-189910600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:189896800-189900000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr2:189896800-189932800	Weak transcription	Pancreas	Pancrea
37	chr2:189897000-189899800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:189897000-189900000	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:189897000-189900000	Strong transcription	HUVEC	blood vessel
40	chr2:189897000-189902200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:189897000-189911000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:189897000-189949000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:189897200-189903600	Weak transcription	Fetal Intestine Small	intestine
44	chr2:189897200-189934400	Weak transcription	Gastric	stomach
45	chr2:189897400-189900000	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr2:189897400-189900200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:189897400-189905800	Weak transcription	Brain Anterior Caudate	brain
48	chr2:189897400-189917400	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr2:189897400-189932400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:189897600-189934000	Weak transcription	Lung	lung

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