Variant report

Variant	rs12442870
Chromosome Location	chr15:79237694-79237695
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:79)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:79 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr15:79237150-79237896	IMR90	lung:	n/a	n/a
2	MAZ	chr15:79236262-79237862	K562	blood:	n/a	n/a
3	RCOR1	chr15:79236740-79237819	K562	blood:	n/a	n/a
4	POLR2A	chr15:79236993-79237732	MCF-7	breast:	n/a	n/a
5	GATA1	chr15:79236609-79237852	K562	blood:	n/a	chr15:79237575-79237584 chr15:79237595-79237605 chr15:79237574-79237584 chr15:79237336-79237344 chr15:79237573-79237586 chr15:79237575-79237582
6	PML	chr15:79237144-79237723	K562	blood:	n/a	n/a
7	POLR2A	chr15:79235719-79237760	GM19099	blood:	n/a	n/a
8	CBX3	chr15:79237042-79237731	K562	blood:	n/a	n/a
9	MYC	chr15:79237170-79237946	MCF-7	breast:	n/a	n/a
10	POLR2A	chr15:79236883-79238025	MCF-7	breast:	n/a	n/a
11	CTCF	chr15:79237560-79237710	SAEC	small airway:	n/a	n/a
12	E2F4	chr15:79237173-79237694	K562	blood:	n/a	chr15:79237507-79237518 chr15:79237212-79237221 chr15:79237400-79237409
13	POLR2A	chr15:79236064-79237775	GM19193	blood:	n/a	n/a
14	POLR2A	chr15:79236453-79237923	Raji	blood:	n/a	n/a
15	MAX	chr15:79237147-79237773	K562	blood:	n/a	n/a
16	TEAD4	chr15:79237111-79237808	K562	blood:	n/a	n/a
17	CREB1	chr15:79237139-79237808	A549	lung:	n/a	n/a
18	HMGN3	chr15:79236957-79237754	K562	blood:	n/a	chr15:79237599-79237606
19	MAX	chr15:79236952-79237812	HCT-116	colon:	n/a	n/a
20	JUND	chr15:79237243-79237716	A549	lung:	n/a	chr15:79237619-79237630 chr15:79237395-79237404
21	E2F6	chr15:79236893-79237708	A549	lung:	n/a	chr15:79237212-79237221 chr15:79237400-79237409
22	MYC	chr15:79237293-79237710	MCF-7	breast:	n/a	n/a
23	POLR2A	chr15:79235811-79237777	GM18951	blood:	n/a	n/a
24	YY1	chr15:79237016-79237713	HepG2	liver:	n/a	chr15:79237513-79237527 chr15:79237516-79237525 chr15:79237519-79237528
25	ZNF263	chr15:79236680-79237847	HEK293-T-REx	kidney:	n/a	n/a
26	POLR2A	chr15:79236471-79237793	HepG2	liver:	n/a	n/a
27	MAX	chr15:79236863-79237754	A549	lung:	n/a	n/a
28	MXI1	chr15:79236981-79237734	HepG2	liver:	n/a	n/a
29	POLR2A	chr15:79235897-79237788	GM18526	blood:	n/a	n/a
30	TAF1	chr15:79236884-79237813	HepG2	liver:	n/a	n/a
31	JUND	chr15:79237166-79237780	K562	blood:	n/a	chr15:79237619-79237630 chr15:79237395-79237404
32	POLR2A	chr15:79234106-79237782	GM18505	blood:	n/a	n/a
33	GATA3	chr15:79237518-79237718	MCF-7	breast:	n/a	chr15:79237575-79237584 chr15:79237595-79237605 chr15:79237574-79237584 chr15:79237573-79237586 chr15:79237575-79237582
34	MAX	chr15:79236839-79237926	MCF-7	breast:	n/a	n/a
35	TAL1	chr15:79237187-79237766	K562	blood:	n/a	n/a
36	POLR2A	chr15:79237157-79237699	HCT-116	colon:	n/a	n/a
37	CHD2	chr15:79236878-79237725	K562	blood:	n/a	chr15:79237399-79237409
38	TAF1	chr15:79237037-79237730	HepG2	liver:	n/a	n/a
39	RELA	chr15:79236521-79237722	GM18951	blood:	n/a	n/a
40	TBL1XR1	chr15:79237506-79237710	K562	blood:	n/a	n/a
41	POLR2A	chr15:79233791-79237784	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:79236051-79237697	K562	blood:	n/a	n/a
43	SIN3A	chr15:79236994-79237720	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr15:79236372-79237783	K562	blood:	n/a	n/a
45	IRF1	chr15:79237012-79237731	K562	blood:	n/a	n/a
46	RAD21	chr15:79237022-79237722	H1-hESC	embryonic stem cell:	n/a	n/a
47	CCNT2	chr15:79237075-79237818	K562	blood:	n/a	n/a
48	MAX	chr15:79236883-79237728	HCT-116	colon:	n/a	n/a
49	RELA	chr15:79236360-79237747	GM15510	blood:	n/a	n/a
50	POLR2A	chr15:79233794-79237777	GM12891	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:79237654-79237704	HAEpiC	amniotic membrane:	n/a
2	chr15:79237654-79237704	GM12891	blood:	n/a
3	chr15:79237654-79237704	IMR90	lung:	fetal
4	chr15:79237654-79237704	HMEC	breast:	n/a
5	chr15:79237654-79237704	GM19239	blood:	n/a
6	chr15:79237654-79237704	T-47D	breast:	n/a
7	chr15:79237654-79237704	NH-A	brain:	n/a
8	chr15:79237654-79237704	SK-N-SH	brain:	n/a
9	chr15:79237654-79237704	HRCEpiC	kidney:	n/a
10	chr15:79237654-79237704	SK-N-MC	brain:	n/a
11	chr15:79237654-79237704	SKMC	muscle:	n/a
12	chr15:79237654-79237704	K562	blood:	n/a
13	chr15:79237654-79237704	HRE	kidney:	n/a
14	chr15:79237654-79237704	SAEC	small airway:	n/a
15	chr15:79237654-79237704	U87	brain:	n/a
16	chr15:79237654-79237704	HUVEC	blood vessel:	n/a
17	chr15:79237654-79237704	H1-hESC	embryonic stem cell:	embryo
18	chr15:79237654-79237704	HEEpiC	esophagus:	n/a
19	chr15:79237654-79237704	HepG2	liver:	n/a
20	chr15:79237654-79237704	HIPEpiC	eye:	n/a
21	chr15:79237654-79237704	NT2-D1	testis:	n/a
22	chr15:79237654-79237704	NHDF-neo	bronchial:	n/a
23	chr15:79237654-79237704	HL-60	blood:	n/a
24	chr15:79237654-79237704	Hela-S3	cervix:	n/a
25	chr15:79237654-79237704	AG10803	skin:	n/a
26	chr15:79237654-79237704	ovcar-3	ovarian:	n/a
27	chr15:79237654-79237704	HCPEpiC	choroid plexus:	n/a
28	chr15:79237654-79237704	AG04449	skin:	fetal
29	chr15:79237654-79237704	SK-N-SH_RA	brain:	n/a
30	chr15:79237654-79237704	CMK	blood:	n/a
31	chr15:79237654-79237704	AG04450	lung:	fetal
32	chr15:79237654-79237704	A549	lung:	n/a
33	chr15:79237654-79237704	AG09309	skin:	n/a
34	chr15:79237654-79237704	AG09319	gingival:	n/a
35	chr15:79237654-79237704	HCT-116	colon:	n/a
36	chr15:79237654-79237704	HCM	heart:	n/a
37	chr15:79237654-79237704	Jurkat	blood:	n/a
38	chr15:79237654-79237704	HRPEpiC	eye:	n/a
39	chr15:79237654-79237704	HEK293	kidney:	embryo
40	chr15:79237654-79237704	MCF10A-Er-Src	breast:	n/a
41	chr15:79237654-79237704	PrEC	prostate:	n/a
42	chr15:79237654-79237704	PANC-1	pancreas:	n/a
43	chr15:79237654-79237704	NB4	blood:	n/a
44	chr15:79237654-79237704	LNCaP	prostate:	n/a
45	chr15:79237654-79237704	GM06990	blood:	n/a
46	chr15:79237654-79237704	GM12878	blood:	n/a
47	chr15:79237654-79237704	BE2_C	brain:	n/a
48	chr15:79237654-79237704	HNPCEpiC	eye:	n/a
49	chr15:79237654-79237704	NHBE	bronchial:	n/a
50	chr15:79237654-79237704	ECC-1	luminal epithelium:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79164120..79166260-chr15:79235714..79238649,3	K562	blood:
2	chr15:79228914..79232769-chr15:79235901..79239047,4	MCF-7	breast:
3	chr15:79164120..79166028-chr15:79235714..79238649,2	K562	blood:
4	chr15:79224751..79228848-chr15:79235939..79238870,4	MCF-7	breast:
5	chr15:79219205..79223895-chr15:79234790..79239038,6	MCF-7	breast:
6	chr15:79229734..79233307-chr15:79235000..79238757,6	MCF-7	breast:
7	chr15:79236829..79239228-chr15:79240562..79242151,2	K562	blood:

No data

Variant related genes	Relation type
CTSH	TF binding region
CTSH	CpG island
ENSG00000185787	Chromatin interaction
ENSG00000103811	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12591571	0.89[ASN][1000 genomes]
rs12592959	0.89[ASN][1000 genomes]
rs1550066	0.82[AFR][1000 genomes]
rs16970296	0.89[ASN][1000 genomes]
rs2289694	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33573	chr15:79053484-79293881	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3428448	chr15:79236847-79239745	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12442870	CTSH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79235400-79238000	Active TSS	Brain Hippocampus Middle	brain
2	chr15:79236000-79237800	Active TSS	Fetal Intestine Large	intestine
3	chr15:79236000-79237800	Active TSS	Fetal Kidney	kidney
4	chr15:79236200-79237800	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr15:79236200-79237800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:79236200-79237800	Active TSS	Psoas Muscle	Psoas
7	chr15:79236200-79237800	Flanking Active TSS	Right Ventricle	heart
8	chr15:79236200-79237800	Bivalent/Poised TSS	Thymus	Thymus
9	chr15:79236200-79238000	Active TSS	Brain Angular Gyrus	brain
10	chr15:79236400-79237800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr15:79236400-79237800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
12	chr15:79236400-79237800	Active TSS	Brain Substantia Nigra	brain
13	chr15:79236400-79237800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr15:79236400-79238000	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:79236400-79238000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:79236400-79238000	Bivalent Enhancer	Fetal Brain Male	brain
17	chr15:79236600-79237800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
18	chr15:79236600-79237800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr15:79236600-79237800	Flanking Active TSS	Colonic Mucosa	Colon
20	chr15:79236600-79237800	Bivalent/Poised TSS	Fetal Lung	lung
21	chr15:79236600-79237800	Flanking Active TSS	Placenta	Placenta
22	chr15:79236600-79238000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr15:79236800-79237800	Active TSS	Aorta	Aorta
24	chr15:79236800-79237800	Active TSS	Left Ventricle	heart
25	chr15:79236800-79238000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:79236800-79238000	Active TSS	Brain Cingulate Gyrus	brain
27	chr15:79237000-79237800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr15:79237000-79237800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:79237000-79237800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
30	chr15:79237000-79237800	Active TSS	Brain Anterior Caudate	brain
31	chr15:79237000-79237800	Transcr. at gene 5' and 3'	Right Atrium	heart
32	chr15:79237000-79237800	Active TSS	Stomach Smooth Muscle	stomach
33	chr15:79237000-79237800	Active TSS	HSMM	muscle
34	chr15:79237000-79237800	Active TSS	HSMMtube	muscle
35	chr15:79237000-79238000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr15:79237000-79238000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
37	chr15:79237000-79238000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr15:79237000-79238000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr15:79237000-79238000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr15:79237000-79238000	Active TSS	Rectal Smooth Muscle	rectum
41	chr15:79237200-79237800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr15:79237200-79237800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
43	chr15:79237200-79237800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:79237200-79237800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:79237200-79237800	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr15:79237200-79237800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr15:79237200-79237800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr15:79237200-79237800	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr15:79237200-79237800	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr15:79237200-79237800	Active TSS	Colon Smooth Muscle	Colon

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