Variant report

Variant	rs73081811
Chromosome Location	chr3:56600183-56600184
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:56600116-56600335	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr3:56600094-56600696	K562	blood:	n/a	n/a

Variant related genes	Relation type
CCDC66	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11130537	0.88[ASN][1000 genomes]
rs17235670	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317134	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2317244	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2317252	0.82[ASN][1000 genomes]
rs282522	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs282523	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs282528	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs282536	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs282541	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4234393	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4681933	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4681945	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4681980	0.82[ASN][1000 genomes]
rs4681994	0.82[ASN][1000 genomes]
rs4682000	0.82[ASN][1000 genomes]
rs55831745	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55938093	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56190096	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56204053	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6445801	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6445803	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6445804	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6445810	0.82[ASN][1000 genomes]
rs6778373	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781056	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781293	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6787227	0.82[ASN][1000 genomes]
rs6792321	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6809499	0.88[ASN][1000 genomes]
rs73079883	0.94[ASN][1000 genomes]
rs73079884	0.94[ASN][1000 genomes]
rs73079891	0.94[ASN][1000 genomes]
rs73079902	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081810	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081819	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081823	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081825	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73081851	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73081854	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7617331	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7620259	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7631662	0.82[ASN][1000 genomes]
rs7637449	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7642389	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9809309	0.85[ASN][1000 genomes]
rs9833926	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9835332	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9839065	0.82[ASN][1000 genomes]
rs9858568	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9875257	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9878373	0.84[EUR][1000 genomes];0.94[ASN][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	esv3347557	chr3:56466500-56619322	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv876817	chr3:56517253-56649282	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv460557	chr3:56594735-56661320	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv590362	chr3:56594735-56661320	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:56592000-56615600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:56592200-56609400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:56592400-56601200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:56592400-56601400	Weak transcription	Left Ventricle	heart
5	chr3:56592400-56601800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:56592400-56601800	Weak transcription	Lung	lung
7	chr3:56592400-56602000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:56592400-56602800	Weak transcription	Esophagus	oesophagus
9	chr3:56592400-56602800	Weak transcription	Gastric	stomach
10	chr3:56592400-56602800	Weak transcription	Spleen	Spleen
11	chr3:56592400-56603000	Weak transcription	Pancreas	Pancrea
12	chr3:56592400-56607400	Weak transcription	Psoas Muscle	Psoas
13	chr3:56592400-56615600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr3:56592400-56639800	Weak transcription	Right Ventricle	heart
15	chr3:56592400-56644800	Weak transcription	Small Intestine	intestine
16	chr3:56592600-56600200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:56592600-56600200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:56592600-56600200	Weak transcription	NHLF	lung
19	chr3:56592600-56601000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr3:56592600-56601000	Weak transcription	HSMMtube	muscle
21	chr3:56592600-56601800	Weak transcription	Aorta	Aorta
22	chr3:56592600-56602200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:56592600-56602200	Weak transcription	Brain Germinal Matrix	brain
24	chr3:56592600-56602200	Weak transcription	Fetal Brain Male	brain
25	chr3:56592600-56603000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr3:56592600-56603800	Weak transcription	Stomach Mucosa	stomach
27	chr3:56592800-56600400	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:56592800-56602000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:56592800-56602000	Weak transcription	Brain Angular Gyrus	brain
30	chr3:56592800-56602000	Weak transcription	A549	lung
31	chr3:56592800-56610200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr3:56592800-56644600	Weak transcription	Fetal Heart	heart
33	chr3:56593000-56602200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:56593000-56603000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:56593000-56607800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr3:56593000-56610000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:56593200-56600800	Weak transcription	HepG2	liver
38	chr3:56593200-56602000	Weak transcription	Brain Substantia Nigra	brain
39	chr3:56593200-56608000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr3:56593200-56609000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr3:56593200-56609600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:56593200-56616400	Weak transcription	Colon Smooth Muscle	Colon
43	chr3:56593400-56600200	Weak transcription	Fetal Brain Female	brain
44	chr3:56593400-56602400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:56593400-56607600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr3:56593400-56608600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr3:56593600-56609800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr3:56594000-56603000	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr3:56594200-56602000	Strong transcription	HUVEC	blood vessel
50	chr3:56594200-56608000	Strong transcription	Breast Myoepithelial Primary Cells	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links