Variant report

Variant	rs1881374
Chromosome Location	chr7:121160264-121160265
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	chr7:121156175..121158638-chr7:121159425..121162281,4	K562	blood:
2	chr7:121154838..121156881-chr7:121159620..121161835,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10228676	0.93[ASN][1000 genomes]
rs10233243	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10237611	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10240973	0.93[ASN][1000 genomes]
rs10253256	0.93[ASN][1000 genomes]
rs10258260	0.93[ASN][1000 genomes]
rs10258506	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10258640	0.93[ASN][1000 genomes]
rs10259325	0.85[ASN][1000 genomes]
rs10270561	0.93[ASN][1000 genomes]
rs10480752	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[ASN][1000 genomes]
rs10953936	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10953937	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11761290	0.93[ASN][1000 genomes]
rs11982466	0.83[CHB][hapmap]
rs1206560	0.84[ASN][1000 genomes]
rs12535189	0.86[ASN][1000 genomes]
rs12540408	0.88[ASN][1000 genomes]
rs12706358	0.81[ASN][1000 genomes]
rs13229583	0.86[ASN][1000 genomes]
rs1358498	0.95[CHB][hapmap];0.86[CHD][hapmap]
rs1406194	0.93[ASN][1000 genomes]
rs1528352	0.90[ASN][1000 genomes]
rs17132759	0.87[CHB][hapmap]
rs17143547	0.87[CHB][hapmap]
rs17143550	0.87[CHB][hapmap]
rs1881375	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1881376	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1919086	0.92[ASN][1000 genomes]
rs1983493	0.92[ASN][1000 genomes]
rs1983494	0.93[ASN][1000 genomes]
rs1983495	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1983496	0.93[ASN][1000 genomes]
rs2049701	0.83[CHB][hapmap]
rs2049702	0.93[ASW][hapmap];0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2103298	0.93[ASN][1000 genomes]
rs2103299	0.93[ASN][1000 genomes]
rs2141364	0.93[ASN][1000 genomes]
rs2178188	0.93[ASN][1000 genomes]
rs28485397	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs28578522	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs28696257	0.93[ASN][1000 genomes]
rs34843814	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3847091	0.93[ASN][1000 genomes]
rs3847092	0.93[ASN][1000 genomes]
rs3857836	0.93[ASN][1000 genomes]
rs4145963	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.83[ASN][1000 genomes]
rs4727933	0.90[ASN][1000 genomes]
rs4731023	0.93[ASN][1000 genomes]
rs4731024	0.93[ASN][1000 genomes]
rs4731025	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5000108	0.87[CHB][hapmap]
rs5000110	0.87[CHB][hapmap]
rs5000111	0.87[CHB][hapmap]
rs5000112	0.87[CHB][hapmap]
rs5000113	0.87[CHB][hapmap]
rs5000114	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.87[MKK][hapmap];0.91[YRI][hapmap];0.85[ASN][1000 genomes]
rs5000115	0.87[CHB][hapmap]
rs5000116	0.86[CHB][hapmap]
rs6466797	0.87[CHB][hapmap]
rs6953922	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6954048	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6960065	0.93[ASN][1000 genomes]
rs736411	0.87[CHB][hapmap]
rs736412	0.87[CHB][hapmap]
rs7777295	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7777787	0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7787312	0.93[ASN][1000 genomes]
rs7791746	0.95[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7793736	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7795140	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs867706	0.93[ASN][1000 genomes]
rs9649443	0.87[ASN][1000 genomes]
rs9719308	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv608333	chr7:121132213-121379616	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1881374	POT1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121152600-121161600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:121157000-121160400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:121159600-121161200	Enhancers	NHDF-Ad	bronchial
4	chr7:121159600-121161800	Enhancers	Colon Smooth Muscle	Colon
5	chr7:121159800-121160400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:121159800-121160600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:121159800-121160800	Enhancers	Osteobl	bone
8	chr7:121160000-121160600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:121160000-121160600	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:121160000-121160600	Active TSS	Adipose Nuclei	Adipose
11	chr7:121160000-121160800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:121160200-121160600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:121160200-121160600	Enhancers	Placenta	Placenta
14	chr7:121160200-121161400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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