Variant report

Variant	rs2530121
Chromosome Location	chr7:97476075-97476076
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1229564	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1234947	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1237625	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13230541	0.84[AFR][1000 genomes]
rs13238313	0.84[YRI][hapmap];0.81[AFR][1000 genomes]
rs2457585	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2457586	0.82[ASN][1000 genomes]
rs2530122	0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2530123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2665438	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34815427	0.81[AFR][1000 genomes]
rs35700925	0.84[AFR][1000 genomes]
rs6959868	0.82[ASN][1000 genomes]
rs6966189	0.81[AFR][1000 genomes]
rs6971012	0.85[JPT][hapmap];0.82[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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers 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 miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97472800-97483000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:97473000-97480800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:97473400-97480800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:97474400-97480800	Weak transcription	Brain Germinal Matrix	brain
5	chr7:97474800-97482600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr7:97475000-97492800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:97476000-97480800	Weak transcription	Primary B cells from cord blood	blood

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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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