Variant report

Variant	rs11635178
Chromosome Location	chr15:79247732-79247733
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10152892	0.82[ASN][1000 genomes]
rs11072819	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs2289700	0.80[CHB][hapmap]
rs4408506	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4779153	0.91[EUR][1000 genomes]
rs7175091	0.86[AMR][1000 genomes]
rs7175785	0.94[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs7177831	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7183668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs876941	0.87[CEU][hapmap];0.90[EUR][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	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv904433	chr15:79243571-79310288	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11635178	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79238600-79252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:79244000-79263400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr15:79244000-79288000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:79244200-79249000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr15:79244200-79253400	Weak transcription	Brain Angular Gyrus	brain
6	chr15:79244600-79249000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:79244600-79249000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr15:79244600-79249200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:79244800-79249800	Weak transcription	Right Atrium	heart
10	chr15:79245600-79252800	Weak transcription	Pancreas	Pancrea
11	chr15:79247400-79249200	Weak transcription	HepG2	liver
12	chr15:79247600-79248600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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