Variant report

Variant	rs4607811
Chromosome Location	chr1:196461513-196461514
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196459854..196461920-chr1:196498611..196500836,2	K562	blood:
2	chr1:196448595..196456381-chr1:196458214..196462920,9	K562	blood:
3	chr1:196460578..196463457-chr1:196623821..196625858,2	K562	blood:
4	chr1:196456315..196458347-chr1:196459943..196462362,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10737677	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10801540	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10801541	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10801542	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10922074	1.00[MEX][hapmap]
rs10922080	0.82[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339948	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1339952	1.00[MEX][hapmap]
rs1339956	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1361402	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs1416963	1.00[AMR][1000 genomes]
rs1416968	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1416969	1.00[YRI][hapmap]
rs1538681	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1538682	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16839768	1.00[AMR][1000 genomes]
rs16839769	1.00[MEX][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs16839916	1.00[AMR][1000 genomes]
rs16840189	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs16840219	1.00[AMR][1000 genomes]
rs1890801	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2335902	1.00[AMR][1000 genomes]
rs2335904	0.87[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2477358	1.00[AMR][1000 genomes]
rs3928858	1.00[MEX][hapmap]
rs4255328	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4290012	0.87[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4411090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4484881	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4500252	1.00[AMR][1000 genomes]
rs4658035	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658037	0.87[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658038	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658044	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658045	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840993	1.00[AMR][1000 genomes]
rs6413932	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6413933	0.90[LWK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs6428342	1.00[MEX][hapmap]
rs6428343	0.87[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428344	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6428345	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657157	1.00[AMR][1000 genomes]
rs6664020	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6678139	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679424	0.87[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690518	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690846	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692565	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6698581	1.00[YRI][hapmap];0.91[AFR][1000 genomes];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[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7512647	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7527233	0.87[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7544266	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs7552572	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs946754	0.87[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196436400-196485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:196437400-196467800	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:196447800-196468000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:196450600-196462200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:196451200-196462200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr1:196451400-196467600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr1:196452800-196471200	Weak transcription	Liver	Liver
8	chr1:196454400-196467400	Weak transcription	Ovary	ovary
9	chr1:196461200-196462800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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