Variant report

Variant	rs10912626
Chromosome Location	chr1:173472689-173472690
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173446238..173448348-chr1:173471138..173472739,2	MCF-7	breast:
2	chr1:173456168..173461242-chr1:173467676..173473413,6	K562	blood:
3	chr1:173471541..173474738-chr1:173476002..173477727,3	MCF-7	breast:
4	chr1:173455943..173458874-chr1:173472089..173474445,2	MCF-7	breast:
5	chr1:173444700..173449124-chr1:173472471..173476984,5	MCF-7	breast:
6	chr1:173454021..173455524-chr1:173471878..173474498,2	K562	blood:
7	chr1:173445753..173447978-chr1:173472675..173475693,4	K562	blood:

Variant related genes	Relation type
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1024266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10399838	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10494490	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10737301	1.00[CHB][hapmap]
rs10737303	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10753078	0.95[CHB][hapmap]
rs10798283	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10798284	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798285	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798290	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs10912621	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10912624	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10912625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912632	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10912634	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10912635	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10912636	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10912641	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912642	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912643	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10912651	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs11582670	0.83[AMR][1000 genomes]
rs12026427	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12026637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12026993	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12027451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12027495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033623	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12034341	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12034533	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12035105	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12041114	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12065426	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs12080769	0.81[ASN][1000 genomes]
rs12406352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406500	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12744504	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1461014	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1461023	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1547155	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1547156	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16846113	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16846206	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1886639	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1925340	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2017323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2422433	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34025182	0.81[ASN][1000 genomes]
rs34332254	0.81[ASN][1000 genomes]
rs35379498	0.81[ASN][1000 genomes]
rs3934575	1.00[CHB][hapmap]
rs3934576	1.00[CHB][hapmap]
rs4244195	1.00[CHB][hapmap]
rs4294450	1.00[CHB][hapmap]
rs4310474	0.95[CHB][hapmap]
rs4336887	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4539167	1.00[CHB][hapmap]
rs4916365	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4916368	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60043192	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6425248	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6425249	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6425251	0.82[CEU][hapmap];0.80[CHB][hapmap]
rs6660804	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs6671141	0.85[CHB][hapmap]
rs6675929	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6687872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6699094	0.95[CHB][hapmap]
rs6702320	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72709325	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs728908	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs745573	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs745574	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7520814	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7521536	0.81[ASN][1000 genomes]
rs7524403	0.81[ASN][1000 genomes]
rs7524592	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7525100	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs7529089	0.81[ASN][1000 genomes]
rs7529377	0.81[ASN][1000 genomes]
rs7530469	1.00[CHB][hapmap]
rs7541082	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs7549074	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs898657	0.83[AMR][1000 genomes]
rs898658	0.81[AMR][1000 genomes]
rs898659	0.81[AMR][1000 genomes]
rs912767	1.00[CHB][hapmap];0.91[JPT][hapmap]

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	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173448000-173477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:173458600-173475600	Weak transcription	Fetal Kidney	kidney
3	chr1:173458600-173476600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:173459400-173474000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:173459400-173475400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:173466400-173475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:173471000-173474200	Enhancers	Liver	Liver
8	chr1:173471400-173473200	Enhancers	HepG2	liver
9	chr1:173471800-173472800	Weak transcription	Stomach Mucosa	stomach
10	chr1:173472200-173473000	Enhancers	Hela-S3	cervix
11	chr1:173472400-173472800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:173472400-173473200	Enhancers	Colon Smooth Muscle	Colon
13	chr1:173472400-173473200	Enhancers	K562	blood
14	chr1:173472400-173473800	Enhancers	Adipose Nuclei	Adipose
15	chr1:173472400-173474000	Enhancers	Stomach Smooth Muscle	stomach
16	chr1:173472600-173472800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr1:173472600-173472800	Enhancers	HSMMtube	muscle
18	chr1:173472600-173473200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:173472600-173473200	Enhancers	NHDF-Ad	bronchial
20	chr1:173472600-173473800	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:173472600-173474000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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