Variant report

Variant	rs4255328
Chromosome Location	chr1:196546911-196546912
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:196546060..196548308-chr1:196548538..196550690,3	K562	blood:
2	chr1:196545478..196547560-chr1:196548804..196550690,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10737677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10801540	1.00[AMR][1000 genomes]
rs10801541	1.00[AMR][1000 genomes]
rs10801542	1.00[AMR][1000 genomes]
rs10922080	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339956	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1416963	1.00[AMR][1000 genomes]
rs1416968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1538681	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1538682	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16839916	1.00[AMR][1000 genomes]
rs16840189	1.00[AMR][1000 genomes]
rs16840219	1.00[AMR][1000 genomes]
rs1890801	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2335902	1.00[AMR][1000 genomes]
rs2335904	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4290012	1.00[AMR][1000 genomes]
rs4411090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4484881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4500252	1.00[AMR][1000 genomes]
rs4607811	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658037	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658045	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840993	1.00[AMR][1000 genomes]
rs6413932	1.00[AMR][1000 genomes]
rs6413933	1.00[AMR][1000 genomes]
rs6428343	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428344	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428345	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657157	1.00[AMR][1000 genomes]
rs6664020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6678139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679424	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690518	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690846	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692565	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6698581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73065849	1.00[AMR][1000 genomes]
rs7511869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7512647	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7527233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7544266	0.94[AFR][1000 genomes]
rs7552572	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946754	0.97[AFR][1000 genomes];1.00[AMR][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196527800-196559400	Weak transcription	Ovary	ovary
2	chr1:196534600-196547200	Weak transcription	Liver	Liver
3	chr1:196534800-196547400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:196535800-196547200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:196541600-196553200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:196546000-196548400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:196546200-196547000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr1:196546200-196547800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:196546400-196547000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:196546400-196547600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:196546400-196547800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:196546400-196547800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr1:196546400-196548400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:196546400-196548400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:196546400-196548400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:196546600-196547800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:196546800-196547000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:196546800-196547200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:196546800-196547600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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