Variant report

Variant	rs7544266
Chromosome Location	chr1:196547929-196547930
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	chr1:196541456..196544111-chr1:196547707..196549833,2	K562	blood:
2	chr1:196546060..196548308-chr1:196548538..196550690,3	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10737671	0.82[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10737676	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs10737677	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs10737678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs10754192	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs10754194	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs10754197	0.88[EUR][1000 genomes]
rs10801536	0.85[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs10801540	0.87[YRI][hapmap]
rs10801541	0.87[YRI][hapmap]
rs10801542	0.87[YRI][hapmap]
rs10922080	0.88[YRI][hapmap];0.86[AFR][1000 genomes]
rs10922081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10922087	0.89[EUR][1000 genomes]
rs12072649	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs12133987	0.89[EUR][1000 genomes]
rs1339947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339948	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs1339949	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339951	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1339956	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs1360143	1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs1361402	1.00[YRI][hapmap]
rs1416960	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs1416966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416968	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs1416969	1.00[YRI][hapmap]
rs1416970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1416971	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1538681	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1538682	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1538683	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs1556961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1571489	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs16839832	0.82[CEU][hapmap]
rs16839841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16839848	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs16839856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes]
rs16839872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16839878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16839881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16839884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16839886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16839905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16839906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16839910	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16839919	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16840397	1.00[JPT][hapmap]
rs1890801	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2335904	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2335907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4255328	0.94[AFR][1000 genomes]
rs4290012	1.00[YRI][hapmap]
rs4294368	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4316314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405100	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4411090	0.94[AFR][1000 genomes]
rs4484881	0.94[AFR][1000 genomes]
rs4518841	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4562566	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4601531	0.85[CEU][hapmap];0.89[EUR][1000 genomes]
rs4607811	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs4614205	1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4633231	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs4658035	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4658037	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4658038	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs4658042	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs4658043	0.86[EUR][1000 genomes]
rs4658044	0.94[AFR][1000 genomes]
rs4658045	1.00[YRI][hapmap];0.92[AFR][1000 genomes]
rs479718	1.00[JPT][hapmap]
rs6413933	0.82[YRI][hapmap]
rs6428343	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6428344	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6428345	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6664020	0.94[AFR][1000 genomes]
rs6670223	0.82[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs6675592	0.84[EUR][1000 genomes]
rs6678139	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6679424	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6680722	0.93[EUR][1000 genomes]
rs6688468	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs6690518	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6690846	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6692565	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs6698581	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6702610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511869	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7512647	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7527233	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs7531491	1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs7541165	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544202	1.00[CEU][hapmap]
rs7544383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7552170	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes]
rs7552572	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs946754	1.00[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv508685	chr1:196524030-196550980	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking 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 miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196527800-196559400	Weak transcription	Ovary	ovary
2	chr1:196541600-196553200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:196546000-196548400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:196546400-196548400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr1:196546400-196548400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr1:196546400-196548400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:196547000-196548000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:196547000-196548200	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:196547000-196551200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:196547600-196550400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr1:196547800-196548800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:196547800-196556200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:196547800-196559000	Weak transcription	Liver	Liver

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