Variant report

Variant	rs56074519
Chromosome Location	chr2:11196797-11196798
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11883480	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885604	1.00[ASN][1000 genomes]
rs11892303	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16857096	0.91[AFR][1000 genomes]
rs17456970	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57881743	0.93[AFR][1000 genomes]
rs72781460	1.00[ASN][1000 genomes]
rs72783428	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783442	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783443	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72783467	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603298	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833392	chr2:11054580-11235239	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv580971	chr2:11175395-11226507	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS	Chromatin interactive region	1 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	chr2:11191000-11196800	Weak transcription	Fetal Brain Female	brain
2	chr2:11195400-11198400	Weak transcription	Spleen	Spleen
3	chr2:11196200-11197600	Enhancers	HSMMtube	muscle
4	chr2:11196400-11197000	Enhancers	NHLF	lung
5	chr2:11196600-11197000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:11196600-11197000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:11196600-11197000	Enhancers	Fetal Stomach	stomach
8	chr2:11196600-11197200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:11196600-11197200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:11196600-11197200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:11196600-11197200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:11196600-11197200	Enhancers	HMEC	breast
13	chr2:11196600-11197400	Enhancers	Osteobl	bone
14	chr2:11196600-11197600	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr2:11196600-11197600	Enhancers	NH-A	brain
16	chr2:11196600-11197800	Enhancers	Brain Germinal Matrix	brain
17	chr2:11196600-11197800	Enhancers	Fetal Brain Male	brain

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Input of quick search could be:

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

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