Variant report

Variant	rs62289059
Chromosome Location	chr4:7638866-7638867
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10937846	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11723630	0.81[AMR][1000 genomes]
rs11735230	0.81[AMR][1000 genomes]
rs11737254	0.81[AMR][1000 genomes]
rs12509359	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13120915	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13130320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468250	0.84[ASN][1000 genomes]
rs2234766	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34741744	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34846328	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35258083	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35828773	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4689146	0.83[AMR][1000 genomes]
rs4689808	0.81[AMR][1000 genomes]
rs4689809	0.81[AMR][1000 genomes]
rs4689812	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7680312	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	esv34156	chr4:7526515-7750588	Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv508272	chr4:7591967-7722112	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv517503	chr4:7632330-7639906	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv878571	chr4:7637297-7743283	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7633200-7643800	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7633400-7644400	Weak transcription	Ovary	ovary
3	chr4:7633800-7646000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:7634600-7644200	Weak transcription	Brain Substantia Nigra	brain
5	chr4:7634600-7644800	Weak transcription	Brain Angular Gyrus	brain
6	chr4:7634600-7645000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:7635000-7641600	Weak transcription	Fetal Brain Male	brain
8	chr4:7635000-7644600	Weak transcription	Brain Germinal Matrix	brain
9	chr4:7635200-7639800	Weak transcription	HepG2	liver
10	chr4:7635200-7645000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:7636800-7646000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr4:7637000-7641000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:7637000-7641200	Weak transcription	Esophagus	oesophagus
14	chr4:7637600-7639800	Weak transcription	Primary B cells from cord blood	blood
15	chr4:7637800-7640200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr4:7638000-7639200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:7638400-7639800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr4:7638800-7640000	Weak transcription	Spleen	Spleen
19	chr4:7638800-7640400	Weak transcription	Fetal Stomach	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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