Variant report

Variant	rs12498420
Chromosome Location	chr4:74534614-74534615
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11721801	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1247670	0.81[JPT][hapmap]
rs1247671	0.81[JPT][hapmap]
rs12504797	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12508661	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs13103576	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1919471	1.00[YRI][hapmap]
rs34945352	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67902316	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6814802	0.97[ASN][1000 genomes]
rs6855668	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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:30 , 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	chr4:74529200-74534800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:74530600-74535600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:74530600-74540200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:74534200-74534800	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr4:74534200-74536600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr4:74534400-74534800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:74534400-74535000	Flanking Active TSS	HSMM	muscle
9	chr4:74534400-74535200	Enhancers	Osteobl	bone
10	chr4:74534400-74535600	Active TSS	Stomach Smooth Muscle	stomach
11	chr4:74534400-74535800	Enhancers	Fetal Brain Female	brain
12	chr4:74534400-74536200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:74534400-74536200	Enhancers	Fetal Muscle Leg	muscle
14	chr4:74534400-74536600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:74534600-74534800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr4:74534600-74534800	Enhancers	A549	lung
17	chr4:74534600-74534800	Active TSS	NHDF-Ad	bronchial
18	chr4:74534600-74535000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:74534600-74535000	Flanking Active TSS	HSMMtube	muscle
20	chr4:74534600-74535000	Flanking Active TSS	NH-A	brain
21	chr4:74534600-74535200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr4:74534600-74535200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:74534600-74535200	Active TSS	Aorta	Aorta
24	chr4:74534600-74535400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:74534600-74535400	Active TSS	Brain Anterior Caudate	brain
26	chr4:74534600-74535400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr4:74534600-74535400	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr4:74534600-74535800	Active TSS	Ovary	ovary
29	chr4:74534600-74536000	Enhancers	Fetal Brain Male	brain
30	chr4:74534600-74536000	Enhancers	Rectal Smooth Muscle	rectum

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