Variant report

Variant	rs242385
Chromosome Location	chr14:56596392-56596393
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1028972	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1152473	0.89[CEU][hapmap];0.84[CHB][hapmap];0.89[EUR][1000 genomes]
rs1152474	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs1152476	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[EUR][1000 genomes]
rs1479752	0.87[EUR][1000 genomes]
rs171411	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1979420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes]
rs242390	0.80[AMR][1000 genomes]
rs242393	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs242395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242398	0.90[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs242406	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs242407	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs242410	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]
rs242414	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs242417	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs242419	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs242587	0.89[EUR][1000 genomes]
rs242588	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes]
rs242592	1.00[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs242593	0.89[EUR][1000 genomes]
rs242594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs375156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes]
rs3783668	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs402332	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs429676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[EUR][1000 genomes]
rs6573087	0.86[EUR][1000 genomes]
rs7140808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes]
rs7153057	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes]
rs7153858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes]
rs753109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs754689	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes]
rs754690	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.95[EUR][1000 genomes]
rs899603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[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	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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56587400-56599200	Weak transcription	Colonic Mucosa	Colon
2	chr14:56587600-56597000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr14:56587600-56598000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:56590200-56597000	Enhancers	Thymus	Thymus
5	chr14:56591000-56599600	Enhancers	Fetal Thymus	thymus
6	chr14:56591200-56597000	Enhancers	Fetal Brain Male	brain
7	chr14:56591600-56596600	Weak transcription	Fetal Lung	lung
8	chr14:56591600-56598200	Weak transcription	Fetal Kidney	kidney
9	chr14:56592000-56597800	Weak transcription	Aorta	Aorta
10	chr14:56592000-56598800	Weak transcription	NHLF	lung
11	chr14:56592000-56601800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:56592400-56599800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:56592400-56600400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:56592600-56597200	Enhancers	Pancreas	Pancrea
15	chr14:56593000-56596600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:56593200-56596400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:56593200-56612800	Weak transcription	Brain Angular Gyrus	brain
18	chr14:56593400-56596400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:56593600-56596600	Enhancers	Fetal Brain Female	brain
20	chr14:56593600-56598200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:56593800-56598000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr14:56594200-56598200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:56594200-56598400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:56594200-56599400	Enhancers	Brain Germinal Matrix	brain
25	chr14:56594400-56596400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr14:56594400-56596400	Weak transcription	Brain Substantia Nigra	brain
27	chr14:56594400-56597800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:56594400-56597800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:56594400-56598000	Weak transcription	Primary T cells from cord blood	blood
30	chr14:56594600-56600600	Enhancers	Stomach Mucosa	stomach
31	chr14:56594600-56601400	Enhancers	Colon Smooth Muscle	Colon
32	chr14:56594800-56597000	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:56594800-56597200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr14:56594800-56597200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr14:56594800-56597400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr14:56595000-56597000	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:56595000-56597000	Enhancers	Gastric	stomach
38	chr14:56595000-56597000	Enhancers	Small Intestine	intestine
39	chr14:56595000-56599400	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr14:56595000-56599800	Enhancers	Duodenum Mucosa	Duodenum
41	chr14:56595200-56597000	Enhancers	Fetal Intestine Small	intestine
42	chr14:56595200-56597200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr14:56595200-56599600	Enhancers	Ovary	ovary
44	chr14:56595400-56596600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:56595400-56596600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr14:56595400-56597200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr14:56595600-56596600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:56595600-56596600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr14:56595600-56596800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr14:56595600-56597400	Enhancers	Brain Hippocampus Middle	brain

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