Variant report

Variant	rs7462931
Chromosome Location	chr8:10910343-10910344
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10111974	0.97[ASN][1000 genomes]
rs11250113	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11777486	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11781155	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11985603	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12115017	0.84[ASN][1000 genomes]
rs13251510	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2409685	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34440473	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4326351	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4489292	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4841483	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4841485	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62490742	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62490743	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6601553	0.84[ASN][1000 genomes]
rs6601555	0.83[AMR][1000 genomes]
rs6987767	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016414	0.91[AMR][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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1022434	chr8:10866242-10916523	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7462931	BLK	Cis_1M	lymphoblastoid	RTeQTL
rs7462931	C8orf5	Cis_1M	lymphoblastoid	RTeQTL
rs7462931	AF131215.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10889800-10910800	Weak transcription	HSMMtube	muscle
2	chr8:10906600-10912000	Weak transcription	Spleen	Spleen
3	chr8:10907000-10912000	Weak transcription	Fetal Thymus	thymus
4	chr8:10907400-10916200	Weak transcription	Brain Germinal Matrix	brain
5	chr8:10907800-10911400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:10908600-10910400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:10908600-10910400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr8:10909400-10911200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:10909400-10911200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:10909800-10910800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:10909800-10911200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr8:10909800-10911200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:10909800-10911200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:10909800-10911400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr8:10910000-10911000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:10910200-10910600	Enhancers	iPS-15b 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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