Variant report

Variant	rs1293288
Chromosome Location	chr8:11718528-11718529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11709901..11713097-chr8:11718255..11721625,5	MCF-7	breast:
2	chr8:11717376..11719253-chr8:11741735..11744320,2	K562	blood:
3	chr8:11717778..11719934-chr8:11735920..11738113,2	MCF-7	breast:
4	chr8:11718467..11721222-chr8:11754378..11756104,3	K562	blood:

Variant related genes	Relation type
ENSG00000255144	Chromatin interaction
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12338	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12898	0.82[JPT][hapmap]
rs1293291	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1293303	0.83[JPT][hapmap]
rs1293304	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1299525	0.91[JPT][hapmap]
rs13280858	0.83[ASN][1000 genomes]
rs13332	0.84[ASN][1000 genomes]
rs17154027	0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs1736090	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs17814426	0.85[CEU][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2142470	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2272766	0.82[ASN][1000 genomes]
rs2294140	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs2645415	0.82[JPT][hapmap]
rs2645419	0.83[ASN][1000 genomes]
rs2645420	0.83[ASN][1000 genomes]
rs2645422	0.83[ASN][1000 genomes]
rs2740593	0.83[ASN][1000 genomes]
rs28577034	0.82[ASN][1000 genomes]
rs3258	0.86[JPT][hapmap]
rs35581201	0.83[ASN][1000 genomes]
rs4841601	0.91[JPT][hapmap]
rs62495696	0.83[ASN][1000 genomes]
rs6601616	0.82[JPT][hapmap]
rs6731	0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:33 , 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	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv1016952	chr8:11679271-11849955	Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
23	nsv1029093	chr8:11679271-11858466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
24	nsv539478	chr8:11679271-11858466	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
25	nsv1017334	chr8:11688534-11732949	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv539479	chr8:11688534-11732949	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv1019738	chr8:11696393-11732949	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
28	nsv539480	chr8:11696393-11732949	Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
29	nsv1031972	chr8:11696393-11805961	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription 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
30	nsv539481	chr8:11696393-11805961	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
31	esv34042	chr8:11698337-11726817	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
32	nsv610293	chr8:11698747-11929734	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
33	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1293288	ENSG00000164733	cis	multi-tissue	Pritchard
rs1293288	CTSB	cis	Whole Blood	GTEx
rs1293288	CTSB	cis	lymphoblastoid	seeQTL
rs1293288	NEIL2	cis	lymphoblastoid	seeQTL
rs1293288	CTSB	Cis_1M	lymphoblastoid	RTeQTL
rs1293288	CTSB	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11700600-11721200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:11703000-11721200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:11703400-11718800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:11705200-11722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:11705200-11723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:11706600-11724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr8:11706800-11723000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:11706800-11724400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:11708600-11724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:11711600-11723800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:11712000-11718600	Weak transcription	Colonic Mucosa	Colon
12	chr8:11712000-11719800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:11712000-11720000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:11712000-11721800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr8:11712000-11724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:11712600-11719000	Weak transcription	Fetal Lung	lung
17	chr8:11714800-11718600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:11714800-11718600	Enhancers	Primary B cells from peripheral blood	blood
19	chr8:11715200-11718800	Enhancers	Primary B cells from cord blood	blood
20	chr8:11715400-11718600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:11715400-11718600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:11715400-11718600	Weak transcription	Fetal Brain Female	brain
23	chr8:11715400-11719800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:11715400-11721200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:11715400-11721800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:11715600-11722400	Weak transcription	Fetal Brain Male	brain
27	chr8:11716000-11718600	Strong transcription	NH-A	brain
28	chr8:11716200-11721000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:11716200-11721800	Genic enhancers	Fetal Intestine Small	intestine
30	chr8:11716400-11718600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr8:11716600-11721000	Weak transcription	Brain Anterior Caudate	brain
32	chr8:11716800-11718600	Weak transcription	Right Atrium	heart
33	chr8:11716800-11720000	Weak transcription	Fetal Heart	heart
34	chr8:11716800-11720000	Weak transcription	Thymus	Thymus
35	chr8:11716800-11721400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:11717000-11718600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:11717000-11718600	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:11717000-11718800	Weak transcription	HMEC	breast
39	chr8:11717200-11720400	Strong transcription	Fetal Stomach	stomach
40	chr8:11717400-11719800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:11717600-11718600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr8:11717600-11718800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:11717600-11719200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr8:11717600-11719200	Flanking Active TSS	GM12878-XiMat	blood
45	chr8:11717600-11719200	Strong transcription	NHEK	skin
46	chr8:11717600-11721000	Genic enhancers	Colon Smooth Muscle	Colon
47	chr8:11717800-11719000	Genic enhancers	Right Ventricle	heart
48	chr8:11717800-11719400	Genic enhancers	Liver	Liver
49	chr8:11717800-11719600	Enhancers	Primary T cells fromperipheralblood	blood
50	chr8:11717800-11719800	Genic enhancers	HepG2	liver

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