Variant report

Variant	rs58074983
Chromosome Location	chr4:85885547-85885548
allele	A/G
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	chr4:85885524-85885589	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:85879778..85882729-chr4:85884440..85887298,2	K562	blood:
2	chr4:85820113..85822349-chr4:85884941..85887197,2	MCF-7	breast:
3	chr4:85881229..85883388-chr4:85885235..85887298,2	K562	blood:

Variant related genes	Relation type
WDFY3-AS2	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11097028	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500519	0.87[EUR][1000 genomes]
rs12501525	0.92[AMR][1000 genomes]
rs12502559	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12503215	0.81[EUR][1000 genomes]
rs12503330	0.88[EUR][1000 genomes]
rs12506456	0.80[EUR][1000 genomes]
rs12510410	0.82[EUR][1000 genomes]
rs13118671	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13125323	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13139541	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13141072	0.88[EUR][1000 genomes]
rs1484661	0.91[AMR][1000 genomes]
rs1508670	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17009317	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17009334	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35190829	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35892581	0.94[EUR][1000 genomes]
rs4376130	0.82[EUR][1000 genomes]
rs4383611	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4590017	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4624645	0.83[EUR][1000 genomes]
rs55871210	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55912355	0.92[EUR][1000 genomes]
rs56094216	0.91[EUR][1000 genomes]
rs6531777	0.81[EUR][1000 genomes]
rs6531783	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66965560	0.86[EUR][1000 genomes]
rs67624868	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6815917	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6820517	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6829807	0.81[EUR][1000 genomes]
rs6847564	0.81[EUR][1000 genomes]
rs6847811	0.82[EUR][1000 genomes]
rs71631375	0.91[EUR][1000 genomes]
rs72664928	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72664957	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7654035	0.82[EUR][1000 genomes]
rs7661609	0.83[EUR][1000 genomes]
rs7682896	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7690054	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7692223	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7694949	0.83[EUR][1000 genomes]
rs7695054	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7699226	0.82[EUR][1000 genomes]
rs9684737	0.81[EUR][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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv879516	chr4:85877561-85895436	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85865200-85886400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:85866000-85886200	Weak transcription	Fetal Intestine Small	intestine
3	chr4:85872000-85886600	Weak transcription	Lung	lung
4	chr4:85873400-85886600	Weak transcription	Esophagus	oesophagus
5	chr4:85873800-85885800	Weak transcription	Osteobl	bone
6	chr4:85874600-85886200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:85877400-85886200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:85877600-85885600	Weak transcription	NHEK	skin
9	chr4:85877600-85885800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:85877600-85886000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr4:85879600-85886200	Weak transcription	Fetal Lung	lung
12	chr4:85879800-85885800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:85879800-85886200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr4:85880000-85885800	Weak transcription	Fetal Stomach	stomach
15	chr4:85880000-85886000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr4:85880000-85886200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr4:85880000-85886200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:85880000-85886200	Weak transcription	NH-A	brain
19	chr4:85880000-85886600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:85880000-85886600	Weak transcription	Spleen	Spleen
21	chr4:85880200-85885800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:85880200-85885800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr4:85880400-85885800	Weak transcription	HUVEC	blood vessel
24	chr4:85881000-85886200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr4:85881400-85885800	Weak transcription	Colon Smooth Muscle	Colon
26	chr4:85881400-85886000	Weak transcription	A549	lung
27	chr4:85881600-85886200	Weak transcription	Right Ventricle	heart
28	chr4:85883000-85885800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:85883400-85885800	Weak transcription	Fetal Heart	heart
30	chr4:85883400-85886000	Weak transcription	NHLF	lung
31	chr4:85883600-85885800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr4:85883800-85885600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:85883800-85885800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr4:85884200-85885600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:85884200-85886200	Weak transcription	Brain Substantia Nigra	brain
36	chr4:85884600-85885800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr4:85884800-85885600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr4:85884800-85885800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:85884800-85886200	Enhancers	Liver	Liver
40	chr4:85885000-85885600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:85885200-85885800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr4:85885200-85885800	Enhancers	Brain Angular Gyrus	brain
43	chr4:85885200-85885800	Enhancers	HepG2	liver
44	chr4:85885200-85886200	Enhancers	Fetal Brain Male	brain
45	chr4:85885200-85886200	Weak transcription	NHDF-Ad	bronchial
46	chr4:85885200-85886400	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr4:85885200-85886400	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr4:85885200-85886600	Bivalent/Poised TSS	Primary B cells from cord blood	blood
49	chr4:85885200-85886800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr4:85885400-85885600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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