Variant report

Variant	rs1834693
Chromosome Location	chr4:175452245-175452246
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10003344	0.85[EUR][1000 genomes]
rs13131341	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365624	0.83[EUR][1000 genomes]
rs1820521	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820522	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256669	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2332893	0.85[EUR][1000 genomes]
rs2555648	0.82[EUR][1000 genomes]
rs2555665	0.83[EUR][1000 genomes]
rs2612664	0.93[EUR][1000 genomes]
rs2612671	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2612676	0.92[EUR][1000 genomes]
rs2612677	0.84[EUR][1000 genomes]
rs4147099	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695933	0.85[EUR][1000 genomes]
rs7656557	0.85[EUR][1000 genomes]
rs9997598	0.84[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1834693	RP11-440I14.2	cis	Skin Sun Exposed Lower leg	GTEx
rs1834693	RP11-440I14.4	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:175445000-175452800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:175445000-175453600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:175445000-175457600	Weak transcription	Placenta	Placenta
4	chr4:175447000-175453000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:175447000-175453000	Weak transcription	Small Intestine	intestine
6	chr4:175447000-175459000	Weak transcription	A549	lung
7	chr4:175447200-175459200	Weak transcription	Stomach Mucosa	stomach
8	chr4:175449600-175452600	Weak transcription	K562	blood
9	chr4:175449600-175452800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:175449600-175452800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:175449600-175453000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:175449600-175453200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:175449800-175452800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:175449800-175460000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:175452200-175453600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr4:175452200-175453800	Enhancers	Fetal Intestine Large	intestine
17	chr4:175452200-175454400	Enhancers	Fetal Intestine Small	intestine
18	chr4:175452200-175459000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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Input of quick search could be:

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

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