Variant report

Variant	rs1435217
Chromosome Location	chr4:54411377-54411378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1435216	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55823057	1.00[AMR][1000 genomes]
rs56388080	1.00[AMR][1000 genomes]
rs57155745	1.00[AMR][1000 genomes]
rs57685463	1.00[AMR][1000 genomes]
rs58208481	1.00[AMR][1000 genomes]
rs59232300	1.00[AMR][1000 genomes]
rs59761197	1.00[AMR][1000 genomes]
rs59961961	1.00[AMR][1000 genomes]
rs6554110	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554113	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6853185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6854868	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73145486	1.00[AMR][1000 genomes]
rs73145499	1.00[AMR][1000 genomes]
rs73147405	1.00[AMR][1000 genomes]
rs73818505	1.00[AMR][1000 genomes]
rs73818919	1.00[AMR][1000 genomes]
rs7681457	1.00[AMR][1000 genomes]
rs7695583	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs932038	1.00[YRI][hapmap];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829936	chr4:54367783-54556123	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54374400-54421000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:54377600-54412200	Weak transcription	Aorta	Aorta
3	chr4:54384600-54424000	Weak transcription	Esophagus	oesophagus
4	chr4:54390400-54430400	Weak transcription	Stomach Mucosa	stomach
5	chr4:54394000-54412400	Weak transcription	Gastric	stomach
6	chr4:54400400-54417000	Weak transcription	Fetal Intestine Small	intestine
7	chr4:54400600-54424400	Weak transcription	Fetal Intestine Large	intestine
8	chr4:54404200-54424400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:54404400-54412000	Weak transcription	Pancreas	Pancrea
10	chr4:54404600-54419200	Weak transcription	Placenta	Placenta
11	chr4:54405000-54413200	Enhancers	NHDF-Ad	bronchial
12	chr4:54407200-54411400	Enhancers	Fetal Brain Male	brain
13	chr4:54407400-54411800	Enhancers	Fetal Lung	lung
14	chr4:54408600-54421000	Weak transcription	Brain Anterior Caudate	brain
15	chr4:54408800-54411600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:54408800-54413000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:54408800-54414000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:54408800-54420400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:54409000-54414000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:54409200-54411800	Weak transcription	Osteobl	bone
21	chr4:54409200-54413600	Weak transcription	HUVEC	blood vessel
22	chr4:54409200-54427000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr4:54409400-54412400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:54409400-54412600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr4:54409400-54417400	Weak transcription	Right Atrium	heart
26	chr4:54409400-54420200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:54409600-54413600	Weak transcription	Left Ventricle	heart
28	chr4:54409600-54415000	Weak transcription	Fetal Brain Female	brain
29	chr4:54409800-54411600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:54410000-54412000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:54410400-54412800	Weak transcription	Fetal Stomach	stomach
32	chr4:54410600-54411800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:54410800-54413200	Enhancers	NHLF	lung
34	chr4:54411000-54412600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:54411200-54419200	Weak transcription	Brain Inferior Temporal Lobe	brain

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