Variant report

Variant	rs2905288
Chromosome Location	chr7:112316500-112316501
allele	C/T
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:18)

rs_ID	r²[population]
rs10224255	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1922899	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1922902	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2188550	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2188551	0.99[ASN][1000 genomes]
rs2905280	1.00[YRI][hapmap]
rs2905285	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2905291	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2952682	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2952683	0.89[ASN][1000 genomes]
rs2966479	0.81[ASN][1000 genomes]
rs2966480	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2966482	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2966483	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9641493	0.85[ASN][1000 genomes]
rs977478	0.84[ASN][1000 genomes]
rs977479	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs977480	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv889055	chr7:112174089-112353440	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112310000-112317600	Weak transcription	Placenta	Placenta
2	chr7:112312800-112318200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:112312800-112319000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:112313200-112319000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr7:112313600-112317600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:112314200-112318200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr7:112315000-112317000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:112315000-112317600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:112316000-112317600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:112316200-112316600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:112316200-112318200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:112316200-112318200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr7:112316400-112317600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr7:112316400-112318200	Enhancers	ES-UCSF4 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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