Variant report

Variant	rs2062478
Chromosome Location	chr6:119798045-119798046
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1288082	1.00[AFR][1000 genomes]
rs1288084	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1288087	1.00[AMR][1000 genomes]
rs1288089	1.00[AMR][1000 genomes]
rs1288090	1.00[AMR][1000 genomes]
rs4946429	0.93[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6569082	1.00[AMR][1000 genomes]
rs6931518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7341362	1.00[AMR][1000 genomes]
rs7752971	1.00[AMR][1000 genomes]
rs978850	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1027904	chr6:119709488-120001986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv533518	chr6:119712186-119998618	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv5455	chr6:119794976-119839636	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119792800-119800000	Weak transcription	K562	blood
2	chr6:119796800-119798200	Enhancers	GM12878-XiMat	blood
3	chr6:119797200-119798800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:119797400-119798200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:119797400-119798200	Enhancers	Primary hematopoietic stem cells	blood
6	chr6:119797400-119798200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr6:119797400-119798400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr6:119797400-119798600	Enhancers	Colon Smooth Muscle	Colon
9	chr6:119797600-119798200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:119797600-119798200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr6:119797600-119799800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:119797600-119800600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr6:119797600-119805400	Weak transcription	Spleen	Spleen
14	chr6:119797800-119798200	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr6:119797800-119800800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr6:119797800-119801200	Weak transcription	Adipose Nuclei	Adipose

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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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