Variant report

Variant	rs4694632
Chromosome Location	chr4:74535409-74535410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10019041	0.88[ASN][1000 genomes]
rs1590118	0.92[ASN][1000 genomes]
rs34617010	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34700776	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694176	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4694627	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4694629	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62312151	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62314280	0.92[ASN][1000 genomes]
rs6832422	0.86[EUR][1000 genomes];0.88[ASN][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv530126	chr4:74376622-74843892	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1008104	chr4:74468434-74621952	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv1012198	chr4:74487793-74621952	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv537139	chr4:74487793-74621952	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	esv3347072	chr4:74531710-74537136	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74529000-74539200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:74530600-74535600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:74530600-74540200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:74534200-74536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:74534400-74535600	Active TSS	Stomach Smooth Muscle	stomach
6	chr4:74534400-74535800	Enhancers	Fetal Brain Female	brain
7	chr4:74534400-74536200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:74534400-74536200	Enhancers	Fetal Muscle Leg	muscle
9	chr4:74534400-74536600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:74534600-74535800	Active TSS	Ovary	ovary
11	chr4:74534600-74536000	Enhancers	Fetal Brain Male	brain
12	chr4:74534600-74536000	Enhancers	Rectal Smooth Muscle	rectum
13	chr4:74534800-74535600	Active TSS	Brain Hippocampus Middle	brain
14	chr4:74534800-74536000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:74534800-74536200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:74534800-74540200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:74535000-74535600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:74535000-74536000	Enhancers	Fetal Stomach	stomach
19	chr4:74535000-74536000	Enhancers	NH-A	brain
20	chr4:74535000-74536200	Enhancers	HSMM	muscle
21	chr4:74535000-74536600	Enhancers	Fetal Lung	lung
22	chr4:74535200-74535600	Enhancers	NHDF-Ad	bronchial
23	chr4:74535200-74536200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:74535200-74536200	Enhancers	Gastric	stomach
25	chr4:74535200-74536600	Enhancers	Pancreas	Pancrea
26	chr4:74535200-74540400	Weak transcription	Osteobl	bone
27	chr4:74535400-74535600	Weak transcription	Brain Anterior Caudate	brain
28	chr4:74535400-74535800	Weak transcription	Adipose Nuclei	Adipose
29	chr4:74535400-74535800	Active TSS	Duodenum Mucosa	Duodenum
30	chr4:74535400-74535800	Weak transcription	Stomach Mucosa	stomach
31	chr4:74535400-74536000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr4:74535400-74536000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:74535400-74536000	Enhancers	Fetal Intestine Large	intestine
34	chr4:74535400-74536000	Enhancers	NHEK	skin
35	chr4:74535400-74536200	Enhancers	Fetal Intestine Small	intestine
36	chr4:74535400-74538800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:74535400-74541400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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