Variant report

Variant	rs734287
Chromosome Location	chr15:79173900-79173901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:79152585..79154428-chr15:79171888..79174495,2	K562	blood:
2	chr15:79172923..79174711-chr15:79183524..79185025,2	K562	blood:
3	chr15:79173489..79175037-chr15:79197852..79199934,2	MCF-7	breast:
4	chr15:79152585..79155864-chr15:79171888..79174971,4	K562	blood:
5	chr15:79166327..79167939-chr15:79173370..79175440,2	MCF-7	breast:
6	chr15:79169002..79171871-chr15:79173579..79175748,2	MCF-7	breast:
7	chr15:79172340..79175798-chr15:79183507..79185842,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185787	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10851913	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10851914	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12592340	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12595538	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs12898532	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12899800	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12911969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59772922	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6495346	0.84[ASN][1000 genomes]
rs7164529	0.82[ASN][1000 genomes]
rs7171258	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7175271	0.82[ASN][1000 genomes]
rs7180375	0.87[ASN][1000 genomes]
rs7181033	0.84[ASN][1000 genomes]
rs7402286	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7497610	0.80[CHB][hapmap]
rs8042186	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8042638	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs892787	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9806693	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	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
3	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs734287	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79167000-79179200	Weak transcription	Esophagus	oesophagus
2	chr15:79167200-79178200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:79167800-79183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:79168000-79174000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr15:79168000-79174800	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr15:79169400-79176400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:79169800-79180000	Weak transcription	Gastric	stomach
8	chr15:79170000-79174400	Genic enhancers	Hela-S3	cervix
9	chr15:79170000-79174600	Genic enhancers	HSMM	muscle
10	chr15:79170200-79187000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:79170400-79174000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:79170400-79177200	Weak transcription	Colonic Mucosa	Colon
13	chr15:79170400-79198600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr15:79170600-79176000	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr15:79170600-79182400	Weak transcription	Aorta	Aorta
16	chr15:79170600-79183200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr15:79170800-79178200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:79170800-79192400	Weak transcription	Stomach Mucosa	stomach
19	chr15:79171000-79174200	Weak transcription	Fetal Kidney	kidney
20	chr15:79171000-79177200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:79171000-79177200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:79171000-79179000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:79171200-79174000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr15:79171200-79175200	Genic enhancers	Muscle Satellite Cultured Cells	--
25	chr15:79171200-79199600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr15:79171200-79199800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:79171200-79215600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:79171400-79175000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr15:79171600-79174600	Genic enhancers	A549	lung
30	chr15:79171600-79180400	Weak transcription	Small Intestine	intestine
31	chr15:79171600-79199600	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr15:79171600-79200400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr15:79171800-79174400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
34	chr15:79171800-79178000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
35	chr15:79171800-79207800	Strong transcription	Fetal Thymus	thymus
36	chr15:79172000-79175200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:79172000-79175200	Strong transcription	Dnd41	blood
38	chr15:79172000-79178600	Weak transcription	Spleen	Spleen
39	chr15:79172000-79185200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:79172000-79200200	Strong transcription	HUVEC	blood vessel
41	chr15:79172000-79202800	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr15:79172200-79174000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:79172200-79174000	Weak transcription	Fetal Brain Male	brain
44	chr15:79172200-79174200	Genic enhancers	NHDF-Ad	bronchial
45	chr15:79172200-79175000	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr15:79172200-79175800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr15:79172200-79176200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr15:79172200-79176400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr15:79172200-79179600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:79172200-79197600	Strong transcription	Placenta	Placenta

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