Variant report

Variant	rs1296022
Chromosome Location	chr8:11722355-11722356
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	FOSL2	chr8:11722118-11722775	HepG2	liver:	n/a	chr8:11722735-11722744 chr8:11722149-11722161
2	HEY1	chr8:11721926-11723233	HepG2	liver:	n/a	n/a
3	MAX	chr8:11722069-11722939	HepG2	liver:	n/a	n/a
4	MYC	chr8:11722136-11722713	MCF10A-Er-Src	breast:	n/a	n/a
5	TEAD4	chr8:11722083-11722739	HepG2	liver:	n/a	n/a
6	FOXA1	chr8:11722284-11722756	HepG2	liver:	n/a	n/a
7	EP300	chr8:11722211-11722692	HepG2	liver:	n/a	n/a
8	CEBPD	chr8:11722305-11722597	HepG2	liver:	n/a	n/a
9	REST	chr8:11722323-11722690	HepG2	liver:	n/a	n/a
10	FOS	chr8:11722150-11722362	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr8:11721933-11722907	HepG2	liver:	n/a	n/a
12	POLR2A	chr8:11722212-11722919	MCF10A-Er-Src	breast:	n/a	n/a
13	SIN3AK20	chr8:11722252-11722733	HepG2	liver:	n/a	n/a
14	HEY1	chr8:11722303-11722711	HepG2	liver:	n/a	n/a
15	FOXA1	chr8:11722202-11722741	HepG2	liver:	n/a	n/a
16	ARID3A	chr8:11722303-11722739	HepG2	liver:	n/a	n/a
17	POLR2A	chr8:11721069-11722791	HepG2	liver:	n/a	n/a
18	FOXA1	chr8:11722170-11722816	HepG2	liver:	n/a	n/a
19	FOXA2	chr8:11722228-11722718	A549	lung:	n/a	n/a
20	MYBL2	chr8:11722147-11722762	HepG2	liver:	n/a	n/a
21	HNF4A	chr8:11722241-11722679	HepG2	liver:	n/a	chr8:11722456-11722471 chr8:11722456-11722471 chr8:11722456-11722471
22	MXI1	chr8:11722334-11722840	HepG2	liver:	n/a	n/a
23	SP1	chr8:11722203-11722778	HepG2	liver:	n/a	n/a
24	MYBL2	chr8:11722106-11722927	HepG2	liver:	n/a	n/a
25	CEBPB	chr8:11722314-11722485	HepG2	liver:	n/a	n/a
26	MAX	chr8:11722337-11722740	HepG2	liver:	n/a	n/a
27	MBD4	chr8:11722303-11722757	HepG2	liver:	n/a	n/a
28	HDAC2	chr8:11722313-11722683	HepG2	liver:	n/a	n/a
29	HNF4A	chr8:11722322-11722648	HepG2	liver:	n/a	chr8:11722456-11722471 chr8:11722456-11722471 chr8:11722456-11722471
30	POLR2A	chr8:11717595-11726429	MCF10A-Er-Src	breast:	n/a	n/a
31	MXI1	chr8:11720978-11723523	IMR90	lung:	n/a	n/a
32	POLR2A	chr8:11722306-11722799	HepG2	liver:	n/a	n/a
33	SMC3	chr8:11722160-11722734	HepG2	liver:	n/a	n/a
34	MYC	chr8:11721536-11722724	MCF10A-Er-Src	breast:	n/a	n/a
35	NFIC	chr8:11722305-11722733	HepG2	liver:	n/a	n/a
36	POLR2A	chr8:11719714-11723317	IMR90	lung:	n/a	n/a
37	FOS	chr8:11722112-11722368	MCF10A-Er-Src	breast:	n/a	chr8:11722149-11722161
38	HNF4G	chr8:11722307-11722732	HepG2	liver:	n/a	chr8:11722456-11722471 chr8:11722456-11722471
39	TBP	chr8:11722333-11722745	HepG2	liver:	n/a	n/a
40	NFIC	chr8:11722301-11722691	HepG2	liver:	n/a	n/a
41	POLR2A	chr8:11720772-11734387	K562	blood:	n/a	n/a
42	POLR2A	chr8:11722227-11722778	HepG2	liver:	n/a	n/a
43	FOXA1	chr8:11722288-11722741	HepG2	liver:	n/a	n/a
44	TEAD4	chr8:11722310-11722523	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11708825..11713035-chr8:11718721..11724039,7	MCF-7	breast:
2	chr8:11695667..11699183-chr8:11720606..11722768,3	K562	blood:

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

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1293303	0.87[ASN][1000 genomes]
rs1293306	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1293309	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1293310	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1293311	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1296023	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1299525	0.99[ASN][1000 genomes]
rs1736117	0.80[AMR][1000 genomes]
rs2645415	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 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	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
rs1296022	CTSB	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11705200-11722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:11705200-11723000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:11706600-11724400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:11706800-11723000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:11706800-11724400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:11708600-11724600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:11711600-11723800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:11712000-11724600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:11715600-11722400	Weak transcription	Fetal Brain Male	brain
10	chr8:11718200-11722600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr8:11718200-11722600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:11718200-11722800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:11718200-11722800	Genic enhancers	Dnd41	blood
14	chr8:11718200-11723000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr8:11718200-11723000	Genic enhancers	HUVEC	blood vessel
16	chr8:11718200-11723200	Genic enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:11718200-11723200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:11718200-11723600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:11718400-11723800	Enhancers	Stomach Mucosa	stomach
20	chr8:11718800-11723400	Genic enhancers	HMEC	breast
21	chr8:11719000-11722400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:11719000-11722600	Strong transcription	Fetal Muscle Leg	muscle
23	chr8:11719000-11722600	Weak transcription	Gastric	stomach
24	chr8:11719000-11723600	Enhancers	Hela-S3	cervix
25	chr8:11719000-11724400	Weak transcription	Aorta	Aorta
26	chr8:11719200-11722400	Weak transcription	Brain Angular Gyrus	brain
27	chr8:11719200-11722600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr8:11719200-11722800	Genic enhancers	NHEK	skin
29	chr8:11719200-11723200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr8:11719800-11723800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:11720000-11722600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr8:11720000-11722600	Enhancers	Right Atrium	heart
33	chr8:11720000-11723200	Weak transcription	Brain Substantia Nigra	brain
34	chr8:11720000-11724000	Enhancers	Ovary	ovary
35	chr8:11720200-11722600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr8:11720200-11722800	Enhancers	HSMMtube	muscle
37	chr8:11720400-11722800	Strong transcription	Thymus	Thymus
38	chr8:11720400-11723800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:11720400-11723800	Weak transcription	Brain Germinal Matrix	brain
40	chr8:11720400-11723800	Genic enhancers	Fetal Stomach	stomach
41	chr8:11720600-11722600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:11720600-11722600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:11720600-11722800	Genic enhancers	Placenta	Placenta
44	chr8:11720600-11722800	Genic enhancers	K562	blood
45	chr8:11720800-11722600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr8:11720800-11723800	Weak transcription	GM12878-XiMat	blood
47	chr8:11721000-11722400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:11721000-11723000	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr8:11721000-11723400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
50	chr8:11721000-11723800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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