Variant report

Variant	rs242398
Chromosome Location	chr14:56658916-56658917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1028972	0.90[CEU][hapmap];0.84[CHB][hapmap];0.94[EUR][1000 genomes]
rs1152473	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs1152474	0.90[CEU][hapmap];0.94[MEX][hapmap];0.94[EUR][1000 genomes]
rs1152475	0.84[CHB][hapmap]
rs1152476	0.90[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];0.80[ASN][1000 genomes]
rs171411	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1979420	0.90[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.94[EUR][1000 genomes]
rs242385	0.90[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs242390	0.89[AMR][1000 genomes]
rs242392	0.84[MEX][hapmap];0.84[AMR][1000 genomes]
rs242393	0.90[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242395	0.90[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs242400	0.84[MEX][hapmap]
rs242406	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs242407	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs242410	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]
rs242414	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs242417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs242419	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs242579	0.89[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes]
rs242587	0.94[EUR][1000 genomes]
rs242588	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs242592	0.90[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs242593	0.94[EUR][1000 genomes]
rs242594	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs34175054	0.94[EUR][1000 genomes]
rs375156	0.90[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs3783668	0.90[ASW][hapmap];0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs402332	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs429676	0.90[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.94[EUR][1000 genomes]
rs4901649	0.84[MEX][hapmap]
rs6573087	0.91[EUR][1000 genomes]
rs7140808	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7153057	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153858	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs753109	0.89[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs754689	0.90[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs754690	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs899603	0.90[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.80[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	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

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56639200-56662000	Weak transcription	Right Ventricle	heart
2	chr14:56639400-56659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:56640000-56659800	Weak transcription	Fetal Intestine Large	intestine
4	chr14:56640000-56661800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:56640400-56661000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:56641000-56660800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr14:56643400-56662000	Weak transcription	Spleen	Spleen
8	chr14:56643600-56662000	Weak transcription	Fetal Kidney	kidney
9	chr14:56644000-56662000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr14:56644200-56660600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:56644800-56661000	Weak transcription	Fetal Brain Female	brain
12	chr14:56645400-56660800	Weak transcription	Lung	lung
13	chr14:56645600-56659800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:56645600-56661200	Weak transcription	Fetal Stomach	stomach
15	chr14:56645600-56662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:56647200-56662000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:56647600-56662000	Weak transcription	Left Ventricle	heart
18	chr14:56648000-56661800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr14:56648200-56659800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr14:56648200-56665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:56649000-56659400	Weak transcription	Brain Germinal Matrix	brain
22	chr14:56649000-56660800	Weak transcription	Fetal Brain Male	brain
23	chr14:56649000-56660800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:56649000-56662200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:56649200-56659800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:56649200-56661000	Weak transcription	Primary B cells from cord blood	blood
27	chr14:56649800-56662200	Weak transcription	Gastric	stomach
28	chr14:56649800-56674600	Weak transcription	Aorta	Aorta
29	chr14:56651200-56659800	Weak transcription	NHDF-Ad	bronchial
30	chr14:56653000-56661800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:56653200-56660400	Weak transcription	Primary T cells from cord blood	blood
32	chr14:56653200-56660400	Weak transcription	Fetal Intestine Small	intestine
33	chr14:56653200-56662000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:56653200-56662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr14:56653400-56662000	Weak transcription	Brain Substantia Nigra	brain
36	chr14:56653800-56661800	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:56654600-56661600	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:56654800-56660000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr14:56654800-56661000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:56654800-56661800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:56655000-56661000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:56656000-56660000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr14:56656200-56659800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:56656200-56661800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:56656200-56662000	Weak transcription	NHLF	lung
46	chr14:56656400-56659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:56656400-56659800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:56656400-56659800	Weak transcription	NH-A	brain
49	chr14:56656400-56662000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:56656400-56662000	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links