Variant report

Variant	rs242410
Chromosome Location	chr14:56622876-56622877
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1028972	1.00[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.94[EUR][1000 genomes]
rs1152473	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1152474	1.00[CEU][hapmap];0.81[CHD][hapmap];0.94[MEX][hapmap];0.94[EUR][1000 genomes]
rs1152475	0.84[CHB][hapmap]
rs1152476	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1152481	0.94[EUR][1000 genomes]
rs1152483	0.94[EUR][1000 genomes]
rs1188692	0.94[EUR][1000 genomes]
rs1479752	0.93[EUR][1000 genomes]
rs171411	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1979420	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[EUR][1000 genomes]
rs242385	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs242390	0.85[AMR][1000 genomes]
rs242392	0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs242393	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs242395	1.00[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.84[GIH][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs242398	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs242400	0.84[MEX][hapmap]
rs242406	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs242407	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs242414	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs242417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs242419	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs242579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[EUR][1000 genomes]
rs242587	0.94[EUR][1000 genomes]
rs242588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.94[EUR][1000 genomes]
rs242592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs242593	0.94[EUR][1000 genomes]
rs242594	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs34175054	0.94[EUR][1000 genomes]
rs375156	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs3783668	0.90[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs402332	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs429676	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs4901649	0.84[MEX][hapmap];0.81[AMR][1000 genomes]
rs6573087	0.91[EUR][1000 genomes]
rs7140808	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs7153057	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs7153858	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes]
rs753109	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs754689	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs754690	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs899603	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv519617	chr14:56620952-56624423	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56615400-56626800	Weak transcription	Left Ventricle	heart
2	chr14:56615600-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:56615800-56623200	Weak transcription	Spleen	Spleen
4	chr14:56615800-56625800	Weak transcription	Lung	lung
5	chr14:56615800-56626800	Weak transcription	Stomach Mucosa	stomach
6	chr14:56616000-56625800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:56616200-56626000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr14:56616800-56640200	Weak transcription	Fetal Stomach	stomach
9	chr14:56617200-56627000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:56617600-56623000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:56617800-56623000	Weak transcription	Fetal Lung	lung
12	chr14:56618000-56629200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr14:56618200-56626400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr14:56618200-56627000	Weak transcription	Gastric	stomach
15	chr14:56618800-56626000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:56619000-56624200	Enhancers	Dnd41	blood
17	chr14:56619000-56625800	Weak transcription	Ovary	ovary
18	chr14:56619200-56623000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:56619400-56626400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:56620000-56626000	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:56620200-56623000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:56620200-56623200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:56620200-56623200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:56620400-56623000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:56621400-56625000	Weak transcription	Pancreas	Pancrea
26	chr14:56621400-56625800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr14:56621400-56625800	Weak transcription	Thymus	Thymus
28	chr14:56621400-56626400	Weak transcription	Aorta	Aorta
29	chr14:56621400-56637600	Weak transcription	Small Intestine	intestine
30	chr14:56622600-56623000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:56622600-56623400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:56622600-56623400	Enhancers	NHDF-Ad	bronchial
33	chr14:56622600-56623600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr14:56622800-56623200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:56622800-56623400	Enhancers	Osteobl	bone

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