Variant report

Variant	rs9368817
Chromosome Location	chr6:34425673-34425674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12664001	0.82[AMR][1000 genomes]
rs16889706	0.82[AMR][1000 genomes]
rs16889714	0.82[AMR][1000 genomes]
rs2395562	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3800476	0.86[AMR][1000 genomes]
rs3800477	0.86[AMR][1000 genomes]
rs4336441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713775	0.82[AMR][1000 genomes]
rs4713776	0.82[AMR][1000 genomes]
rs4713780	0.82[AMR][1000 genomes]
rs4713781	0.81[AMR][1000 genomes]
rs4713787	0.83[AMR][1000 genomes]
rs4713793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4713795	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6935129	0.81[AMR][1000 genomes]
rs9348940	0.90[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9368815	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34394400-34433200	Weak transcription	Right Atrium	heart
2	chr6:34417600-34428000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr6:34424600-34426400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:34424600-34426600	Enhancers	K562	blood
5	chr6:34425000-34425800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:34425000-34429000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:34425200-34426000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:34425200-34426000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:34425200-34426600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:34425400-34425800	Enhancers	Fetal Muscle Trunk	muscle
11	chr6:34425400-34426000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr6:34425400-34426000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:34425400-34426000	Enhancers	Fetal Muscle Leg	muscle
14	chr6:34425600-34425800	Active TSS	HepG2	liver
15	chr6:34425600-34426000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:34425600-34428000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:34425600-34429000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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