Variant report

Variant	rs7002768
Chromosome Location	chr8:11675248-11675249
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12156077	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1293315	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13264298	0.92[ASN][1000 genomes]
rs17756892	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2409830	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2409832	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2409833	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2645424	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4308694	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6601611	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6601612	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7005011	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7009302	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7015195	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7015547	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7839083	0.80[ASN][1000 genomes]
rs962366	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][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
rs7002768	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	chr8:11668200-11677800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:11669400-11708000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:11669600-11675600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:11669600-11678000	Weak transcription	NH-A	brain
8	chr8:11670000-11676000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr8:11670000-11677600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:11670000-11677600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:11670000-11677600	Weak transcription	Aorta	Aorta
12	chr8:11670000-11677600	Weak transcription	Fetal Lung	lung
13	chr8:11670000-11677600	Weak transcription	Gastric	stomach
14	chr8:11670000-11677600	Weak transcription	Left Ventricle	heart
15	chr8:11670000-11677600	Weak transcription	Lung	lung
16	chr8:11670000-11678000	Weak transcription	Right Atrium	heart
17	chr8:11670000-11689200	Weak transcription	Fetal Heart	heart
18	chr8:11670400-11677000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:11670600-11677400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:11670600-11677400	Weak transcription	Esophagus	oesophagus
21	chr8:11670600-11677400	Weak transcription	Fetal Stomach	stomach
22	chr8:11670600-11677800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:11670800-11676000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr8:11670800-11677400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr8:11670800-11677600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:11671000-11679000	Weak transcription	Fetal Kidney	kidney
27	chr8:11671200-11678000	Weak transcription	Hela-S3	cervix
28	chr8:11671400-11677600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:11671400-11677600	Weak transcription	Colonic Mucosa	Colon
30	chr8:11671400-11677600	Weak transcription	Pancreas	Pancrea
31	chr8:11671400-11677600	Weak transcription	Spleen	Spleen
32	chr8:11671400-11677800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:11671400-11678000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:11671400-11701400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:11671600-11675800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr8:11671600-11676000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr8:11671600-11676600	Weak transcription	Small Intestine	intestine
38	chr8:11671600-11677200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:11671600-11677200	Weak transcription	Placenta	Placenta
40	chr8:11671600-11677200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:11671600-11677200	Weak transcription	Thymus	Thymus
42	chr8:11671600-11677200	Weak transcription	HMEC	breast
43	chr8:11671600-11677600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:11671600-11677600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:11671600-11677600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr8:11671600-11677600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:11671600-11677600	Weak transcription	Fetal Brain Female	brain
48	chr8:11671600-11677600	Weak transcription	Psoas Muscle	Psoas
49	chr8:11671600-11678000	Weak transcription	HSMM	muscle
50	chr8:11671600-11679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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