Variant report

Variant	rs1416963
Chromosome Location	chr1:196375648-196375649
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	chr1:196372518..196376500-chr1:196378398..196382162,4	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10737677	1.00[AMR][1000 genomes]
rs10801540	1.00[AMR][1000 genomes]
rs10801541	1.00[AMR][1000 genomes]
rs10801542	1.00[AMR][1000 genomes]
rs10922080	1.00[AMR][1000 genomes]
rs1339948	1.00[AMR][1000 genomes]
rs1339956	1.00[AMR][1000 genomes]
rs1416968	1.00[AMR][1000 genomes]
rs1538681	1.00[AMR][1000 genomes]
rs1538682	1.00[AMR][1000 genomes]
rs16839768	1.00[AMR][1000 genomes]
rs16839769	1.00[AMR][1000 genomes]
rs16839916	1.00[AMR][1000 genomes]
rs16840189	1.00[AMR][1000 genomes]
rs16840219	1.00[AMR][1000 genomes]
rs1890801	1.00[AMR][1000 genomes]
rs2335902	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2335904	1.00[AMR][1000 genomes]
rs2477358	1.00[AMR][1000 genomes]
rs4255328	1.00[AMR][1000 genomes]
rs4290012	1.00[AMR][1000 genomes]
rs4411090	1.00[AMR][1000 genomes]
rs4484881	1.00[AMR][1000 genomes]
rs4500252	1.00[AMR][1000 genomes]
rs4607811	1.00[AMR][1000 genomes]
rs4658035	1.00[AMR][1000 genomes]
rs4658037	1.00[AMR][1000 genomes]
rs4658038	1.00[AMR][1000 genomes]
rs4658044	1.00[AMR][1000 genomes]
rs4658045	1.00[AMR][1000 genomes]
rs60840993	1.00[AMR][1000 genomes]
rs6413932	1.00[AMR][1000 genomes]
rs6413933	0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428343	1.00[AMR][1000 genomes]
rs6428344	1.00[AMR][1000 genomes]
rs6428345	1.00[AMR][1000 genomes]
rs6657157	1.00[AMR][1000 genomes]
rs6664020	1.00[AMR][1000 genomes]
rs6678139	1.00[AMR][1000 genomes]
rs6679424	1.00[AMR][1000 genomes]
rs6690518	1.00[AMR][1000 genomes]
rs6690846	1.00[AMR][1000 genomes]
rs6692565	1.00[AMR][1000 genomes]
rs6696031	1.00[AMR][1000 genomes]
rs6698581	1.00[AMR][1000 genomes]
rs73065815	1.00[AMR][1000 genomes]
rs73065832	1.00[AMR][1000 genomes]
rs73065849	1.00[AMR][1000 genomes]
rs7511869	1.00[AMR][1000 genomes]
rs7512647	1.00[AMR][1000 genomes]
rs7527233	1.00[AMR][1000 genomes]
rs7552572	1.00[AMR][1000 genomes]
rs946754	1.00[AMR][1000 genomes]
rs977157	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469680	chr1:196259846-196419016	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv482746	chr1:196259846-196419016	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv872953	chr1:196286639-196411281	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	nsv872954	chr1:196304863-196387809	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv548742	chr1:196339655-196391866	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv872956	chr1:196339655-196411281	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv872957	chr1:196347066-196411281	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196343400-196377200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:196358000-196393800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:196370200-196375800	Weak transcription	Fetal Lung	lung
4	chr1:196370400-196376000	Weak transcription	Ovary	ovary
5	chr1:196370800-196376800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:196371000-196376000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:196371200-196376600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:196372600-196383800	Weak transcription	Liver	Liver
9	chr1:196373600-196376000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:196373800-196376600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr1:196374000-196375800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:196374000-196375800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:196374000-196375800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:196374000-196375800	Weak transcription	NH-A	brain
15	chr1:196374000-196376400	Weak transcription	HSMM	muscle
16	chr1:196374000-196376600	Weak transcription	HUVEC	blood vessel
17	chr1:196374200-196376000	Weak transcription	Osteobl	bone
18	chr1:196375200-196377200	Weak transcription	Hela-S3	cervix
19	chr1:196375200-196377400	Enhancers	HepG2	liver
20	chr1:196375600-196377200	Enhancers	Small Intestine	intestine
21	chr1:196375600-196377600	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:196375600-196378200	Enhancers	Fetal Kidney	kidney

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