Variant report

Variant	rs1820521
Chromosome Location	chr4:175448712-175448713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10003344	0.84[EUR][1000 genomes]
rs13131341	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365624	0.83[EUR][1000 genomes]
rs1820522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834693	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256669	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2332893	0.84[EUR][1000 genomes]
rs2555648	0.81[EUR][1000 genomes]
rs2555665	0.82[EUR][1000 genomes]
rs2612664	0.91[EUR][1000 genomes]
rs2612671	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612676	0.91[EUR][1000 genomes]
rs2612677	0.83[EUR][1000 genomes]
rs4147099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695933	0.84[EUR][1000 genomes]
rs7656557	0.84[EUR][1000 genomes]
rs9997598	0.82[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	nsv869116	chr4:175231090-175801761	Flanking Active TSS Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv525487	chr4:175400104-175470867	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv880884	chr4:175439056-175453830	Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175444800-175449200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:175445000-175452800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:175445000-175453600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr4:175445000-175457600	Weak transcription	Placenta	Placenta
5	chr4:175445800-175449000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:175445800-175449000	Weak transcription	K562	blood
7	chr4:175446200-175449000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:175446200-175452200	Weak transcription	Fetal Intestine Small	intestine
9	chr4:175446400-175450200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:175446800-175449400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:175447000-175453000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:175447000-175453000	Weak transcription	Small Intestine	intestine
13	chr4:175447000-175459000	Weak transcription	A549	lung
14	chr4:175447200-175459200	Weak transcription	Stomach Mucosa	stomach
15	chr4:175447400-175452200	Weak transcription	Fetal Intestine Large	intestine
16	chr4:175448200-175449000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:175448200-175449600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:175448400-175449200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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