Variant report

Variant	rs7015195
Chromosome Location	chr8:11678501-11678502
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11676833-11707731	K562	blood:	n/a	n/a
2	POLR2A	chr8:11678394-11678578	HepG2	liver:	n/a	n/a
3	PML	chr8:11678384-11678894	K562	blood:	n/a	chr8:11678633-11678641

Variant related genes	Relation type
FDFT1	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10097887	0.81[ASN][1000 genomes]
rs1123140	0.85[ASN][1000 genomes]
rs12156077	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1298295	0.81[ASN][1000 genomes]
rs13264298	0.80[ASN][1000 genomes]
rs1692806	0.90[ASN][1000 genomes]
rs17149412	0.85[ASN][1000 genomes]
rs17756892	0.88[ASN][1000 genomes]
rs17757392	0.82[ASN][1000 genomes]
rs2294136	0.80[ASN][1000 genomes]
rs2294137	0.82[ASN][1000 genomes]
rs2409830	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2409831	0.93[ASN][1000 genomes]
rs2409832	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2409833	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2645424	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2645426	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645427	0.83[ASN][1000 genomes]
rs2898300	0.91[ASN][1000 genomes]
rs35383383	0.82[ASN][1000 genomes]
rs3779662	0.82[ASN][1000 genomes]
rs4308694	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6601611	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7002768	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7005011	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7009302	0.81[EUR][1000 genomes]
rs7015547	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7839083	0.94[ASN][1000 genomes]
rs962366	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
16	nsv890365	chr8:11666451-11735641	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv1031158	chr8:11666558-11759064	Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv539477	chr8:11666558-11759064	Enhancers Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv890367	chr8:11668153-11793529	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
22	nsv890368	chr8:11671041-11718528	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv890369	chr8:11671041-11840011	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7015195	CTSB	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11667000-11711000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:11667200-11683800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:11667400-11679200	Weak transcription	Fetal Brain Male	brain
4	chr8:11669400-11708000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:11670000-11689200	Weak transcription	Fetal Heart	heart
6	chr8:11671000-11679000	Weak transcription	Fetal Kidney	kidney
7	chr8:11671400-11701400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:11671600-11679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:11671600-11679200	Weak transcription	HSMMtube	muscle
10	chr8:11671800-11679000	Weak transcription	Colon Smooth Muscle	Colon
11	chr8:11671800-11679600	Weak transcription	Brain Germinal Matrix	brain
12	chr8:11672400-11679200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:11672400-11679200	Weak transcription	NHDF-Ad	bronchial
14	chr8:11675000-11679200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:11675200-11707000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:11675800-11712600	Strong transcription	Dnd41	blood
17	chr8:11676000-11690600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:11676200-11704800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:11676400-11679000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:11676600-11678600	Enhancers	Right Ventricle	heart
21	chr8:11676800-11680400	Genic enhancers	HepG2	liver
22	chr8:11676800-11681200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:11677000-11678600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:11677000-11685800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:11677000-11705200	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr8:11677200-11678600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr8:11677200-11679000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:11677200-11690600	Strong transcription	HMEC	breast
29	chr8:11677200-11690800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:11677200-11704400	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr8:11677400-11678600	Genic enhancers	Placenta	Placenta
32	chr8:11677400-11678600	Genic enhancers	Fetal Stomach	stomach
33	chr8:11677400-11682200	Strong transcription	Thymus	Thymus
34	chr8:11677400-11690400	Strong transcription	NHEK	skin
35	chr8:11677600-11678600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:11677600-11678600	Genic enhancers	Brain Angular Gyrus	brain
37	chr8:11677600-11678600	Genic enhancers	Gastric	stomach
38	chr8:11677600-11679000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr8:11677600-11679000	Genic enhancers	Brain Cingulate Gyrus	brain
40	chr8:11677600-11679200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:11677600-11679400	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr8:11677600-11680600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr8:11677600-11681400	Strong transcription	Aorta	Aorta
44	chr8:11677600-11682400	Strong transcription	Fetal Intestine Large	intestine
45	chr8:11677600-11682400	Strong transcription	Fetal Muscle Leg	muscle
46	chr8:11677600-11688600	Strong transcription	Fetal Intestine Small	intestine
47	chr8:11677600-11691800	Strong transcription	Osteobl	bone
48	chr8:11677600-11702000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:11677600-11702000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr8:11677600-11703200	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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