Variant report

Variant	rs11702496
Chromosome Location	chr6:13134176-13134177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11700631	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11701439	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11701446	0.87[AFR][1000 genomes]
rs11701955	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11702793	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11702828	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1573334	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1573335	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1573336	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2070539	0.81[EUR][1000 genomes]
rs2186927	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2838384	0.82[EUR][1000 genomes]
rs2838393	0.82[EUR][1000 genomes]
rs35196921	0.81[EUR][1000 genomes]
rs57786602	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6518323	0.82[EUR][1000 genomes]
rs7278524	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8132884	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[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	nsv817350	chr6:12922859-13137655	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv600992	chr6:12961922-13218549	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11702496	CSTB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13115000-13135400	Weak transcription	Lung	lung
2	chr6:13121600-13135200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:13124400-13137800	Weak transcription	Pancreas	Pancrea
4	chr6:13128200-13139600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr6:13128400-13139000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr6:13132000-13138400	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:13132600-13135200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:13132600-13135400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:13132600-13139200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:13132800-13137800	Weak transcription	Left Ventricle	heart
11	chr6:13132800-13153000	Weak transcription	Aorta	Aorta
12	chr6:13133200-13135400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:13133200-13136800	Weak transcription	Fetal Heart	heart
14	chr6:13133200-13138600	Weak transcription	Right Ventricle	heart
15	chr6:13133600-13137000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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