Variant report

Variant	rs10073448
Chromosome Location	chr5:75716626-75716627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10043040	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044351	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044370	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10044373	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065322	0.93[EUR][1000 genomes]
rs10068074	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068404	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10068651	0.82[EUR][1000 genomes]
rs10070688	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10072221	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073228	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073282	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10073382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10077372	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10079393	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10213849	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10462539	0.91[EUR][1000 genomes]
rs10462540	0.92[EUR][1000 genomes]
rs11738470	0.90[EUR][1000 genomes]
rs11740038	0.88[EUR][1000 genomes]
rs11743541	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11744637	0.92[EUR][1000 genomes]
rs11747990	0.92[EUR][1000 genomes]
rs11749318	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12523532	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175420	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13357820	0.91[EUR][1000 genomes]
rs28386181	0.92[EUR][1000 genomes]
rs3886042	0.92[EUR][1000 genomes]
rs3886043	0.92[EUR][1000 genomes]
rs4254886	0.92[EUR][1000 genomes]
rs4615280	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55995866	0.91[EUR][1000 genomes]
rs56189196	0.86[EUR][1000 genomes]
rs59428516	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60570368	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6453217	0.91[EUR][1000 genomes]
rs6865628	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6887962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6895725	0.91[EUR][1000 genomes]
rs7706078	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7706926	0.92[EUR][1000 genomes]
rs7707426	0.92[EUR][1000 genomes]
rs7718641	0.92[EUR][1000 genomes]
rs7731240	0.92[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	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv882206	chr5:75676658-75746813	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75701000-75721600	Weak transcription	Fetal Stomach	stomach
2	chr5:75703000-75731800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr5:75703200-75717800	Weak transcription	Small Intestine	intestine
4	chr5:75703400-75718000	Weak transcription	Primary T cells from cord blood	blood
5	chr5:75703600-75747000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr5:75704600-75716800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:75706800-75718000	Weak transcription	Fetal Lung	lung
8	chr5:75707000-75727600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:75707800-75717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:75707800-75718000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:75709800-75718000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:75709800-75727200	Weak transcription	Primary B cells from cord blood	blood
13	chr5:75710200-75717000	Weak transcription	Pancreas	Pancrea
14	chr5:75710200-75719000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:75710200-75720600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:75710200-75720800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:75710600-75718000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:75710800-75717000	Weak transcription	Gastric	stomach
19	chr5:75710800-75719000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:75711000-75733600	Weak transcription	Thymus	Thymus
21	chr5:75711600-75716800	Weak transcription	HepG2	liver
22	chr5:75712200-75717600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr5:75712200-75720400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:75712400-75720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:75714000-75720400	Weak transcription	Placenta	Placenta
26	chr5:75714800-75720400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr5:75715400-75717000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:75715600-75718800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:75715600-75719800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:75715800-75718800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr5:75716000-75717000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr5:75716000-75717600	Weak transcription	Fetal Kidney	kidney
33	chr5:75716000-75718200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr5:75716400-75716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:75716400-75717800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:75716400-75719200	Enhancers	Liver	Liver
37	chr5:75716600-75716800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr5:75716600-75717200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr5:75716600-75717400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr5:75716600-75718600	Enhancers	Stomach Mucosa	stomach
41	chr5:75716600-75718800	Enhancers	Duodenum Mucosa	Duodenum
42	chr5:75716600-75720400	Weak transcription	Primary T cells fromperipheralblood	blood

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