Variant report

Variant	rs2395563
Chromosome Location	chr6:34429561-34429562
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10947509	1.00[AMR][1000 genomes]
rs12660150	1.00[AFR][1000 genomes]
rs172280	1.00[YRI][hapmap]
rs182280	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1889733	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205271	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs205272	1.00[AMR][1000 genomes]
rs205273	1.00[AMR][1000 genomes]
rs205274	1.00[AMR][1000 genomes]
rs205275	1.00[AMR][1000 genomes]
rs205277	1.00[AMR][1000 genomes]
rs205278	1.00[AMR][1000 genomes]
rs205285	1.00[AMR][1000 genomes]
rs206922	1.00[YRI][hapmap]
rs206928	1.00[YRI][hapmap]
rs206929	1.00[AMR][1000 genomes]
rs206931	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206932	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206933	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs206934	1.00[AMR][1000 genomes]
rs206938	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs206939	1.00[AMR][1000 genomes]
rs206940	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2182382	1.00[AMR][1000 genomes]
rs2395557	1.00[AMR][1000 genomes]
rs2395558	1.00[AMR][1000 genomes]
rs2395565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2395566	1.00[AMR][1000 genomes]
rs2840286	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2894399	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3843524	1.00[AMR][1000 genomes]
rs3846865	1.00[AMR][1000 genomes]
rs3846870	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3857561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs443351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs453919	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs460389	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs462194	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs466031	1.00[YRI][hapmap]
rs4713778	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4713814	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6457780	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6457782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6457783	1.00[AMR][1000 genomes]
rs6908420	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6913723	1.00[AMR][1000 genomes]
rs6918865	1.00[AMR][1000 genomes]
rs6922059	1.00[AMR][1000 genomes]
rs7760590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7773372	1.00[YRI][hapmap]
rs7774674	1.00[AMR][1000 genomes]
rs9296118	1.00[AMR][1000 genomes]
rs9394233	1.00[YRI][hapmap]
rs9461986	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9469828	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv2758046	chr6:34382492-34714677	Genic enhancers Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759418	chr6:34382492-34714677	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv885785	chr6:34404636-34874002	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv462904	chr6:34416388-34493012	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv602903	chr6:34416388-34493012	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv885786	chr6:34426884-34542662	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34394400-34433200	Weak transcription	Right Atrium	heart
2	chr6:34426000-34430400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:34426000-34430400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:34426400-34430000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr6:34426600-34430200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:34428000-34430200	Weak transcription	Liver	Liver
7	chr6:34428000-34432200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:34428200-34430000	Weak transcription	HepG2	liver
9	chr6:34428200-34430400	Weak transcription	Stomach Mucosa	stomach
10	chr6:34428800-34429800	Weak transcription	A549	lung
11	chr6:34428800-34433200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:34429000-34430000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:34429000-34430000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:34429000-34430400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:34429000-34430800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:34429200-34430000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr6:34429200-34430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:34429200-34430200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:34429200-34430400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:34429200-34430400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:34429200-34430400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:34429200-34431600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:34429400-34430000	Enhancers	K562	blood
24	chr6:34429400-34430200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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