Variant report

Variant	rs242407
Chromosome Location	chr14:56617656-56617657
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:56617611..56619995-chr14:56685329..56687097,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1028972	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1152473	0.89[CEU][hapmap];0.83[CHB][hapmap];0.94[EUR][1000 genomes]
rs1152474	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[EUR][1000 genomes]
rs1152476	1.00[CEU][hapmap];0.83[CHB][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];0.82[ASN][1000 genomes]
rs171411	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1979420	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[EUR][1000 genomes]
rs242385	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]
rs242390	0.80[AMR][1000 genomes]
rs242393	1.00[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs242395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs242398	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]
rs242406	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs242410	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	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs242417	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs242579	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes]
rs242587	0.94[EUR][1000 genomes]
rs242588	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[EUR][1000 genomes]
rs242592	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs242593	0.94[EUR][1000 genomes]
rs242594	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs34175054	0.94[EUR][1000 genomes]
rs375156	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs3783668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs402332	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs429676	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes]
rs6573087	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7140808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7153057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7153858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs753109	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs754689	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs754690	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs899603	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.82[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56611400-56620000	Enhancers	Colon Smooth Muscle	Colon
2	chr14:56612200-56618000	Enhancers	Rectal Smooth Muscle	rectum
3	chr14:56613200-56620000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:56613400-56620000	Weak transcription	HUVEC	blood vessel
5	chr14:56613600-56617800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:56613600-56619800	Enhancers	Fetal Brain Male	brain
7	chr14:56613800-56618200	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:56613800-56619400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr14:56614200-56618800	Enhancers	Primary T cells from cord blood	blood
10	chr14:56614600-56617800	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr14:56614600-56618400	Flanking Active TSS	Dnd41	blood
12	chr14:56614600-56619000	Enhancers	Fetal Thymus	thymus
13	chr14:56614800-56618000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr14:56614800-56618000	Enhancers	Brain Germinal Matrix	brain
15	chr14:56614800-56618400	Enhancers	Thymus	Thymus
16	chr14:56615000-56617800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:56615000-56620000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr14:56615400-56618600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:56615400-56618800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:56615400-56626800	Weak transcription	Left Ventricle	heart
21	chr14:56615600-56617800	Weak transcription	Esophagus	oesophagus
22	chr14:56615600-56621000	Weak transcription	Small Intestine	intestine
23	chr14:56615600-56639800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:56615800-56618800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr14:56615800-56619000	Weak transcription	Brain Substantia Nigra	brain
26	chr14:56615800-56623200	Weak transcription	Spleen	Spleen
27	chr14:56615800-56625800	Weak transcription	Lung	lung
28	chr14:56615800-56626800	Weak transcription	Stomach Mucosa	stomach
29	chr14:56616000-56618200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:56616000-56625800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr14:56616200-56619000	Weak transcription	Fetal Intestine Small	intestine
32	chr14:56616200-56621000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:56616200-56621200	Weak transcription	Aorta	Aorta
34	chr14:56616200-56626000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr14:56616600-56617800	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr14:56616800-56617800	Enhancers	Brain Anterior Caudate	brain
37	chr14:56616800-56618000	Enhancers	Brain Hippocampus Middle	brain
38	chr14:56616800-56619000	Enhancers	Pancreas	Pancrea
39	chr14:56616800-56640200	Weak transcription	Fetal Stomach	stomach
40	chr14:56617000-56617800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr14:56617000-56618800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr14:56617000-56618800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr14:56617200-56620200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:56617200-56627000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:56617400-56618200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:56617400-56618400	Enhancers	Ovary	ovary
47	chr14:56617600-56617800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr14:56617600-56617800	Enhancers	Fetal Lung	lung
49	chr14:56617600-56618000	Weak transcription	Gastric	stomach
50	chr14:56617600-56618600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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