Variant report

Variant	rs592034
Chromosome Location	chr7:129158033-129158034
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1248449	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs604699	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs605030	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62489129	0.87[EUR][1000 genomes]
rs62489130	0.91[EUR][1000 genomes]
rs62490862	0.97[EUR][1000 genomes]
rs62490865	0.97[EUR][1000 genomes]
rs634484	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs635651	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs682434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs683778	0.87[AFR][1000 genomes]
rs684190	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs690864	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs692711	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6977678	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv831128	chr7:129063040-129240800	Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	esv3478069	chr7:129157163-129204221	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3478070	chr7:129157177-129204220	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129150800-129175400	Weak transcription	Right Atrium	heart
2	chr7:129152000-129162600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:129154600-129159800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:129154800-129158800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:129154800-129159200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:129154800-129159200	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr7:129154800-129159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:129154800-129162000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:129155000-129159600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:129155000-129159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:129155200-129159600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:129157200-129162800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr7:129157800-129158400	Bivalent Enhancer	HepG2	liver

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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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