Variant report

Variant	rs10519947
Chromosome Location	chr5:126937464-126937465
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10491250	1.00[CEU][hapmap]
rs11745840	1.00[CEU][hapmap]
rs12110288	0.81[EUR][1000 genomes]
rs17164854	1.00[CEU][hapmap]
rs17164923	1.00[CEU][hapmap]
rs17164951	1.00[CEU][hapmap]
rs1990954	1.00[CEU][hapmap]
rs1990955	1.00[CEU][hapmap]
rs2108888	0.81[EUR][1000 genomes]
rs2270933	1.00[CEU][hapmap]
rs3851468	1.00[CEU][hapmap]
rs41298316	1.00[AFR][1000 genomes]
rs55821064	0.81[EUR][1000 genomes]
rs56157640	1.00[AFR][1000 genomes]
rs6865700	1.00[CEU][hapmap]
rs6866275	1.00[CEU][hapmap]
rs6873921	1.00[CEU][hapmap]
rs6874260	1.00[CEU][hapmap]
rs6892624	0.81[EUR][1000 genomes]
rs6897163	1.00[CEU][hapmap]
rs7737871	1.00[CEU][hapmap]
rs929781	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs929782	1.00[CEU][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv830479	chr5:126849254-127053121	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126922200-126939200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:126932600-126942000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:126933200-126938400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126933600-126938200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr5:126935400-126938200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:126935800-126938200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:126936800-126937600	Enhancers	Colon Smooth Muscle	Colon
8	chr5:126936800-126937600	Enhancers	Ovary	ovary
9	chr5:126937000-126939000	Enhancers	Stomach Smooth Muscle	stomach
10	chr5:126937000-126941800	Weak transcription	Fetal Lung	lung
11	chr5:126937200-126941600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:126937400-126941800	Weak transcription	Rectal Smooth Muscle	rectum

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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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