Variant report

Variant	rs62247795
Chromosome Location	chr3:46526694-46526695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs34622981	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7374675	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7430431	0.81[AFR][1000 genomes]
rs867620	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
2	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1009892	chr3:46496775-46546918	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv536553	chr3:46496775-46546918	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46511800-46530200	Weak transcription	Right Atrium	heart
2	chr3:46522400-46527400	Enhancers	HSMM	muscle
3	chr3:46522800-46530200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:46522800-46530400	Weak transcription	Gastric	stomach
5	chr3:46523400-46529400	Weak transcription	Brain Substantia Nigra	brain
6	chr3:46524400-46528400	Enhancers	Fetal Intestine Large	intestine
7	chr3:46524600-46528400	Enhancers	Fetal Intestine Small	intestine
8	chr3:46524800-46527600	Enhancers	Fetal Muscle Leg	muscle
9	chr3:46524800-46530400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:46525000-46527400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr3:46525000-46530600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr3:46525200-46526800	Enhancers	Spleen	Spleen
13	chr3:46525200-46530000	Weak transcription	NH-A	brain
14	chr3:46525400-46527400	Enhancers	Fetal Muscle Trunk	muscle
15	chr3:46525800-46530400	Weak transcription	Right Ventricle	heart
16	chr3:46526000-46527400	Enhancers	Stomach Mucosa	stomach
17	chr3:46526000-46527400	Enhancers	HSMMtube	muscle
18	chr3:46526200-46527200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:46526200-46527800	Enhancers	Duodenum Mucosa	Duodenum
20	chr3:46526200-46530200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr3:46526400-46526800	Weak transcription	Fetal Lung	lung
22	chr3:46526400-46527000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:46526400-46527000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr3:46526400-46527200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:46526400-46527200	Enhancers	Placenta	Placenta
26	chr3:46526400-46527400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:46526600-46526800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:46526600-46526800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr3:46526600-46526800	Enhancers	Left Ventricle	heart
30	chr3:46526600-46526800	Flanking Active TSS	Pancreas	Pancrea
31	chr3:46526600-46526800	Flanking Active TSS	HepG2	liver
32	chr3:46526600-46527200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:46526600-46527400	Enhancers	Rectal Mucosa Donor 31	rectum

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