Variant report

Variant	rs16850379
Chromosome Location	chr2:235001537-235001538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11901675	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16850380	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55857066	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57795197	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998149	chr2:234978261-235086951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234999000-235002600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:234999200-235001600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr2:234999800-235002000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:235000000-235002400	Enhancers	Pancreas	Pancrea
5	chr2:235000400-235001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:235000400-235001600	Enhancers	Esophagus	oesophagus
7	chr2:235000400-235001600	Enhancers	Fetal Brain Male	brain
8	chr2:235000800-235001600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:235000800-235001800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:235000800-235002200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:235000800-235002200	Enhancers	Brain Germinal Matrix	brain
12	chr2:235000800-235002200	Enhancers	HMEC	breast
13	chr2:235000800-235003800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr2:235000800-235004800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr2:235001200-235001600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:235001400-235001600	Enhancers	Spleen	Spleen
17	chr2:235001400-235002400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:235001400-235004600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:235001400-235005800	Weak transcription	Liver	Liver

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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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