Variant report

Variant	rs1736103
Chromosome Location	chr8:11712639-11712640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11712140-11713261	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:11712329-11712916	HepG2	liver:	n/a	n/a
3	POLR2A	chr8:11700506-11713198	SK-N-MC	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11710197..11714536-chr8:11724997..11727273,4	K562	blood:
2	chr8:11708512..11715317-chr8:11723234..11727095,9	MCF-7	breast:
3	chr8:11709901..11713097-chr8:11718255..11721625,5	MCF-7	breast:
4	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
5	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
6	chr8:11701923..11705144-chr8:11709953..11712815,3	K562	blood:

No data

Variant related genes	Relation type
CTSB	TF binding region
ENSG00000164733	Chromatin interaction
ENSG00000269899	Chromatin interaction
ENSG00000079459	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1122182	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780453	1.00[ASN][1000 genomes]
rs1293289	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293290	1.00[ASN][1000 genomes]
rs1293292	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293294	1.00[ASN][1000 genomes]
rs1293295	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293296	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293298	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293300	1.00[ASN][1000 genomes]
rs1293301	1.00[ASN][1000 genomes]
rs1293308	1.00[ASN][1000 genomes]
rs1293327	1.00[ASN][1000 genomes]
rs1293331	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1296025	1.00[ASN][1000 genomes]
rs1296026	1.00[ASN][1000 genomes]
rs1692811	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1692812	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1692814	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1692817	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1692819	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1692821	1.00[ASN][1000 genomes]
rs1736065	1.00[ASN][1000 genomes]
rs1736081	1.00[ASN][1000 genomes]
rs1736082	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1736083	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1736085	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1736086	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1736089	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2010629	1.00[ASN][1000 genomes]
rs2645417	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2645425	0.84[AMR][1000 genomes]
rs2740592	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2740594	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2740595	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35304870	1.00[ASN][1000 genomes]
rs3947	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4839	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs709821	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs709822	1.00[ASN][1000 genomes]
rs7831946	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:35 , 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	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	nsv972525	chr8:11706325-11714357	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1736103	CTSB	cis	Esophagus Muscularis	GTEx
rs1736103	CTSB	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11679000-11715200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:11682200-11713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr8:11683000-11713200	Strong transcription	Primary B cells from peripheral blood	blood
4	chr8:11698600-11716600	Strong transcription	Primary T cells from cord blood	blood
5	chr8:11700600-11721200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:11703000-11721200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr8:11703400-11718800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:11704400-11715600	Weak transcription	GM12878-XiMat	blood
9	chr8:11705200-11722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr8:11705200-11723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr8:11706600-11724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:11706800-11723000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:11706800-11724400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:11707600-11713400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr8:11708400-11713200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr8:11708600-11716200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:11708600-11718200	Weak transcription	Aorta	Aorta
18	chr8:11708600-11724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:11709400-11718200	Weak transcription	Fetal Kidney	kidney
20	chr8:11710000-11713000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:11710000-11714000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:11710200-11712800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr8:11710200-11713000	Genic enhancers	Fetal Intestine Large	intestine
24	chr8:11710200-11713200	Genic enhancers	Fetal Intestine Small	intestine
25	chr8:11710800-11715200	Genic enhancers	Liver	Liver
26	chr8:11711000-11713200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr8:11711000-11713200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr8:11711000-11714400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
29	chr8:11711000-11714800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:11711000-11715200	Weak transcription	Primary B cells from cord blood	blood
31	chr8:11711200-11713600	Weak transcription	Fetal Brain Male	brain
32	chr8:11711200-11713800	Weak transcription	Brain Substantia Nigra	brain
33	chr8:11711200-11714600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:11711200-11714600	Weak transcription	Gastric	stomach
35	chr8:11711400-11713000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:11711400-11714000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:11711600-11713000	Enhancers	HMEC	breast
38	chr8:11711600-11713800	Genic enhancers	NHEK	skin
39	chr8:11711600-11714400	Weak transcription	Brain Germinal Matrix	brain
40	chr8:11711600-11716600	Weak transcription	Psoas Muscle	Psoas
41	chr8:11711600-11723800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:11711800-11713000	Strong transcription	Fetal Thymus	thymus
43	chr8:11711800-11714600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:11711800-11714600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:11711800-11714600	Weak transcription	Fetal Brain Female	brain
46	chr8:11711800-11714600	Weak transcription	Right Atrium	heart
47	chr8:11711800-11715200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:11711800-11718400	Weak transcription	Pancreas	Pancrea
49	chr8:11712000-11712800	Enhancers	Placenta	Placenta
50	chr8:11712000-11713000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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