Variant report

Variant	rs2220712
Chromosome Location	chr8:19624794-19624795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13248141	1.00[ASN][1000 genomes]
rs13258716	1.00[ASN][1000 genomes]
rs13261437	1.00[ASN][1000 genomes]
rs13280698	1.00[ASN][1000 genomes]
rs28428748	1.00[ASN][1000 genomes]
rs34911871	1.00[ASN][1000 genomes]
rs4535751	1.00[CHD][hapmap]
rs4922065	1.00[CHD][hapmap]
rs73202601	1.00[ASN][1000 genomes]
rs73204703	1.00[ASN][1000 genomes]
rs73204704	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19623800-19625400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:19624000-19624800	Enhancers	K562	blood
3	chr8:19624000-19626000	Enhancers	Brain Substantia Nigra	brain
4	chr8:19624200-19624800	Enhancers	Placenta	Placenta
5	chr8:19624200-19625400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:19624200-19625600	Enhancers	Brain Cingulate Gyrus	brain
7	chr8:19624200-19625800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:19624200-19625800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:19624400-19625600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:19624400-19625600	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:19624400-19625800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:19624400-19625800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:19624400-19625800	Enhancers	Brain Anterior Caudate	brain
14	chr8:19624400-19626200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:19624600-19625400	Weak transcription	Pancreas	Pancrea

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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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