Variant report

Variant	rs62264166
Chromosome Location	chr3:112865414-112865415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10511319	0.81[ASN][1000 genomes]
rs10934222	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11712319	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11716722	0.88[ASN][1000 genomes]
rs11720141	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12490566	0.88[ASN][1000 genomes]
rs12631163	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12631199	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12634099	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2178398	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2204788	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2204789	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2700229	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3732812	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4528911	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4555493	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs62262801	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6770160	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs871595	0.86[ASN][1000 genomes]
rs9855348	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv829677	chr3:112857075-113038987	Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1003511	chr3:112858775-112989045	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112847800-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:112852800-112866800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:112855000-112866800	Weak transcription	Pancreas	Pancrea
4	chr3:112858600-112867400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:112862600-112866200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:112862600-112866600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:112862600-112866800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:112862600-112866800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:112862800-112866000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:112862800-112866400	Weak transcription	NHEK	skin
11	chr3:112862800-112866800	Weak transcription	HMEC	breast
12	chr3:112863000-112866400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:112863200-112866800	Weak transcription	Esophagus	oesophagus
14	chr3:112863400-112870600	Weak transcription	Left Ventricle	heart
15	chr3:112864000-112865600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr3:112864400-112865600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr3:112864400-112865800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr3:112864400-112865800	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr3:112864400-112866800	Enhancers	Rectal Smooth Muscle	rectum
20	chr3:112864600-112865600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr3:112864600-112865800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:112864600-112867600	Enhancers	Colon Smooth Muscle	Colon
23	chr3:112864800-112865600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr3:112865200-112866400	Weak transcription	Fetal Muscle Leg	muscle
25	chr3:112865200-112866600	Weak transcription	Fetal Kidney	kidney
26	chr3:112865200-112866800	Weak transcription	Ovary	ovary
27	chr3:112865200-112867000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr3:112865200-112871400	Enhancers	Fetal Stomach	stomach
29	chr3:112865400-112866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:112865400-112867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:112865400-112867600	Enhancers	Skeletal Muscle Male	skeletal muscle

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