Variant report

Variant	rs6664020
Chromosome Location	chr1:196527272-196527273
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:196521771..196523647-chr1:196525103..196528091,2	K562	blood:
2	chr1:196513692..196516564-chr1:196524408..196527749,3	K562	blood:
3	chr1:196525035..196527662-chr1:196528241..196531754,3	K562	blood:
4	chr1:196525702..196527977-chr1:196529545..196531665,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:49)

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]
rs4255328	1.00[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]
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]
rs73065832	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:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196509800-196529600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr1:196514600-196527600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr1:196525400-196527600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:196526000-196527600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr1:196526600-196527400	Enhancers	Hela-S3	cervix
6	chr1:196527000-196527400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr1:196527000-196527400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:196527000-196527400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:196527000-196527400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:196527000-196527400	Enhancers	NHLF	lung
11	chr1:196527000-196527800	Active TSS	Right Atrium	heart
12	chr1:196527000-196527800	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:196527200-196527400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:196527200-196527400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:196527200-196527800	Active TSS	Adipose Nuclei	Adipose
16	chr1:196527200-196527800	Active TSS	Liver	Liver
17	chr1:196527200-196527800	Active TSS	HUVEC	blood vessel
18	chr1:196527200-196527800	Active TSS	NHDF-Ad	bronchial
19	chr1:196527200-196527800	Active TSS	Osteobl	bone
20	chr1:196527200-196528000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:196527200-196528000	Active TSS	A549	lung
22	chr1:196527200-196530000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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