Variant report

Variant	rs4687736
Chromosome Location	chr3:53745112-53745113
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10510765	0.83[CEU][hapmap]
rs11708227	0.83[CEU][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs11709505	0.83[CEU][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes]
rs11719179	0.83[CEU][hapmap]
rs13075639	0.86[CEU][hapmap];0.83[AFR][1000 genomes]
rs13076366	0.83[CEU][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes]
rs13082692	0.84[CEU][hapmap]
rs13092344	0.84[AFR][1000 genomes]
rs2125876	0.81[AFR][1000 genomes]
rs2612013	0.90[EUR][1000 genomes]
rs35377175	0.83[AFR][1000 genomes]
rs4453827	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1007655	chr3:53742148-53767689	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1002452	chr3:53742148-53802811	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1000280	chr3:53742736-53770588	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53737400-53747800	Weak transcription	Fetal Brain Male	brain
2	chr3:53740200-53764400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:53740400-53745400	Weak transcription	Right Atrium	heart
4	chr3:53741200-53751400	Weak transcription	Fetal Brain Female	brain
5	chr3:53742600-53778000	Weak transcription	Pancreas	Pancrea
6	chr3:53744200-53747800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:53744200-53753800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:53744200-53764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr3:53744400-53745200	Weak transcription	Fetal Intestine Large	intestine
10	chr3:53744400-53745400	Weak transcription	Left Ventricle	heart
11	chr3:53744400-53748200	Weak transcription	Fetal Heart	heart
12	chr3:53744400-53749400	Weak transcription	Right Ventricle	heart
13	chr3:53744400-53749800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr3:53744400-53756600	Weak transcription	Lung	lung
15	chr3:53744400-53758600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:53744400-53763800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr3:53744600-53746200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr3:53744600-53746400	Strong transcription	Fetal Lung	lung
19	chr3:53744600-53746800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr3:53744600-53747600	Weak transcription	Spleen	Spleen
21	chr3:53744600-53749600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:53744600-53755000	Weak transcription	Brain Anterior Caudate	brain
23	chr3:53744600-53755000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr3:53744600-53756400	Weak transcription	Liver	Liver
25	chr3:53744600-53761200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:53745000-53753800	Strong transcription	Fetal Intestine Small	intestine

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