Variant report

Variant	rs11713978
Chromosome Location	chr3:112875002-112875003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10934220	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11705763	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11708485	1.00[JPT][hapmap]
rs11710826	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11716287	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1350786	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16860542	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17317973	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17318371	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1881944	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56874575	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73223909	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73223910	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73223912	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73223913	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73223917	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73227391	1.00[ASN][1000 genomes]
rs7648917	0.84[AMR][1000 genomes];0.92[EUR][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	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer 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	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112871000-112876600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:112871000-112881400	Weak transcription	Fetal Lung	lung
3	chr3:112871400-112875800	Weak transcription	Fetal Stomach	stomach
4	chr3:112871400-112876000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:112871400-112876000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr3:112871600-112875200	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:112872400-112876000	Weak transcription	Adipose Nuclei	Adipose
8	chr3:112873000-112875600	Weak transcription	Fetal Kidney	kidney
9	chr3:112873000-112875800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:112873000-112875800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr3:112873000-112876000	Weak transcription	HSMMtube	muscle
12	chr3:112873000-112876200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:112873200-112875800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr3:112873400-112876000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:112874800-112876600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr3:112874800-112877600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:112874800-112878000	Enhancers	Colon Smooth Muscle	Colon
18	chr3:112875000-112875400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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