Variant report

Variant	rs1075689
Chromosome Location	chr2:31298045-31298046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31296323..31299006-chr2:31301351..31302915,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10166079	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10175305	0.89[EUR][1000 genomes]
rs10188244	0.85[EUR][1000 genomes]
rs10189705	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10205657	0.85[EUR][1000 genomes]
rs1075688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11124239	0.85[EUR][1000 genomes]
rs11124240	0.89[EUR][1000 genomes]
rs11674713	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11686425	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11692265	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11888670	0.84[EUR][1000 genomes]
rs12712310	0.87[EUR][1000 genomes]
rs12712311	0.85[EUR][1000 genomes]
rs12996218	0.87[EUR][1000 genomes]
rs13003016	0.85[EUR][1000 genomes]
rs13029054	0.87[EUR][1000 genomes]
rs1862975	0.86[EUR][1000 genomes]
rs1862977	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1862978	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1862979	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1862981	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1991103	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1991104	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2098787	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2161832	0.87[EUR][1000 genomes]
rs2161833	0.87[EUR][1000 genomes]
rs2194467	0.89[EUR][1000 genomes]
rs2194468	0.89[EUR][1000 genomes]
rs2194469	0.89[EUR][1000 genomes]
rs2365192	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2365196	0.85[EUR][1000 genomes]
rs2365197	0.84[EUR][1000 genomes]
rs2365199	0.81[EUR][1000 genomes]
rs2365200	0.84[EUR][1000 genomes]
rs2365201	0.88[EUR][1000 genomes]
rs2365205	0.85[EUR][1000 genomes]
rs2365206	0.85[EUR][1000 genomes]
rs35285211	0.86[EUR][1000 genomes]
rs4951965	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6543598	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6543599	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6543600	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6709814	0.89[EUR][1000 genomes]
rs6713789	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6718085	0.85[EUR][1000 genomes]
rs6718097	0.85[EUR][1000 genomes]
rs6722828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6729079	0.87[EUR][1000 genomes]
rs6732067	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6743541	0.83[EUR][1000 genomes]
rs6753457	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6760532	0.89[EUR][1000 genomes]
rs6760971	0.89[EUR][1000 genomes]
rs7565689	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7570822	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7583033	0.87[EUR][1000 genomes]
rs7583218	0.87[EUR][1000 genomes]
rs7600547	0.87[EUR][1000 genomes]
rs9973425	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31278200-31310800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:31278800-31306800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr2:31284000-31301800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr2:31288800-31305000	Weak transcription	Right Atrium	heart
5	chr2:31288800-31308400	Weak transcription	Spleen	Spleen
6	chr2:31291000-31298400	Weak transcription	Brain Germinal Matrix	brain
7	chr2:31293800-31298200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:31294000-31301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:31294200-31298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:31294400-31298400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr2:31294400-31298400	Weak transcription	HMEC	breast
12	chr2:31294400-31301400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:31294600-31298200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:31294600-31298400	Weak transcription	NHEK	skin
15	chr2:31294600-31298600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:31295600-31310200	Weak transcription	Primary B cells from cord blood	blood
17	chr2:31297200-31301400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:31297400-31316400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:31297600-31299400	Enhancers	Fetal Stomach	stomach
20	chr2:31297800-31298400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:31297800-31298400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:31297800-31298800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:31297800-31299400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:31298000-31298600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr2:31298000-31298600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:31298000-31298800	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr2:31298000-31298800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:31298000-31298800	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:31298000-31299000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:31298000-31299000	Enhancers	H9 Cell Line	embryonic stem cell
31	chr2:31298000-31299000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr2:31298000-31299200	Enhancers	Fetal Brain Female	brain

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