Variant report

Variant	rs1293306
Chromosome Location	chr8:11721080-11721081
allele	C/T
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	HEY1	chr8:11720870-11721222	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:11721077-11721170	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr8:11720692-11721199	HepG2	liver:	n/a	n/a
4	POLR2A	chr8:11721069-11722791	HepG2	liver:	n/a	n/a
5	POLR2A	chr8:11717595-11726429	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFK	chr8:11721018-11721205	HepG2	liver:	n/a	n/a
7	MXI1	chr8:11720978-11723523	IMR90	lung:	n/a	n/a
8	POLR2A	chr8:11719714-11723317	IMR90	lung:	n/a	n/a
9	POLR2A	chr8:11721018-11721472	HepG2	liver:	n/a	n/a
10	GATA1	chr8:11719747-11721486	PBDE	blood:	n/a	chr8:11720459-11720476 chr8:11720468-11720477
11	POLR2A	chr8:11720772-11734387	K562	blood:	n/a	n/a
12	POLR2A	chr8:11720987-11721745	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:11709901..11713097-chr8:11718255..11721625,5	MCF-7	breast:
2	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
3	chr8:11718857..11721432-chr8:11753489..11755957,2	K562	blood:
4	chr8:11695667..11699183-chr8:11720606..11722768,3	K562	blood:
5	chr8:11718467..11721222-chr8:11754378..11756104,3	K562	blood:

Variant related genes	Relation type
CTSB	TF binding region
ENSG00000255144	Chromatin interaction
ENSG00000164733	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12898	0.82[JPT][hapmap]
rs1293303	0.95[CHB][hapmap];0.91[JPT][hapmap];0.97[ASN][1000 genomes]
rs1293304	0.81[ASN][1000 genomes]
rs1293309	0.96[CHB][hapmap];0.86[ASN][1000 genomes]
rs1293310	0.83[ASN][1000 genomes]
rs1293311	0.83[ASN][1000 genomes]
rs1296022	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1296023	0.86[CHB][hapmap]
rs1299525	0.87[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs1692804	0.86[CHB][hapmap]
rs2272767	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs2645415	0.88[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2740597	0.82[CHB][hapmap]
rs62495697	0.81[ASN][1000 genomes]
rs6980952	0.82[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9644756	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 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	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1293306	CTSB	Cis_1M	lymphoblastoid	RTeQTL

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	chr8:11705200-11722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:11705200-11723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:11706600-11724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:11706800-11723000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:11706800-11724400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr8:11708600-11724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:11711600-11723800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:11712000-11721800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:11712000-11724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:11715400-11721200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:11715400-11721800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:11715600-11722400	Weak transcription	Fetal Brain Male	brain
15	chr8:11716200-11721800	Genic enhancers	Fetal Intestine Small	intestine
16	chr8:11716800-11721400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:11718200-11721200	Genic enhancers	NHLF	lung
18	chr8:11718200-11721400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr8:11718200-11721800	Genic enhancers	Fetal Intestine Large	intestine
20	chr8:11718200-11721800	Genic enhancers	Rectal Smooth Muscle	rectum
21	chr8:11718200-11722600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr8:11718200-11722600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:11718200-11722800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:11718200-11722800	Genic enhancers	Dnd41	blood
25	chr8:11718200-11723000	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr8:11718200-11723000	Genic enhancers	HUVEC	blood vessel
27	chr8:11718200-11723200	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr8:11718200-11723200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:11718200-11723600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:11718400-11721400	Genic enhancers	Adipose Nuclei	Adipose
31	chr8:11718400-11721800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:11718400-11722000	Enhancers	Psoas Muscle	Psoas
33	chr8:11718400-11723800	Enhancers	Stomach Mucosa	stomach
34	chr8:11718600-11721200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:11718600-11721200	Genic enhancers	NH-A	brain
36	chr8:11718600-11721600	Genic enhancers	Rectal Mucosa Donor 29	rectum
37	chr8:11718600-11721800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:11718600-11721800	Strong transcription	Fetal Brain Female	brain
39	chr8:11718800-11723400	Genic enhancers	HMEC	breast
40	chr8:11719000-11721200	Enhancers	Right Ventricle	heart
41	chr8:11719000-11721800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:11719000-11722000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr8:11719000-11722200	Strong transcription	Fetal Lung	lung
44	chr8:11719000-11722400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr8:11719000-11722600	Strong transcription	Fetal Muscle Leg	muscle
46	chr8:11719000-11722600	Weak transcription	Gastric	stomach
47	chr8:11719000-11723600	Enhancers	Hela-S3	cervix
48	chr8:11719000-11724400	Weak transcription	Aorta	Aorta
49	chr8:11719200-11721200	Enhancers	Primary hematopoietic stem cells	blood
50	chr8:11719200-11721400	Genic enhancers	Duodenum Mucosa	Duodenum

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