Variant report

Variant	rs2289698
Chromosome Location	chr15:79223445-79223446
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:159)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:159 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:79223104-79223754	K562	blood:	n/a	n/a
2	MYC	chr15:79223069-79223841	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr15:79222895-79223625	ECC-1	luminal epithelium:	n/a	n/a
4	SIN3AK20	chr15:79222899-79224242	MCF-7	breast:	n/a	n/a
5	ZNF143	chr15:79223359-79223599	K562	blood:	n/a	n/a
6	FOSL2	chr15:79223313-79223552	A549	lung:	n/a	n/a
7	NFIC	chr15:79222991-79223903	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr15:79222906-79226130	GM12892	blood:	n/a	n/a
9	POLR2A	chr15:79210927-79227564	K562	blood:	n/a	n/a
10	POLR2A	chr15:79222974-79226540	GM18526	blood:	n/a	n/a
11	POLR2A	chr15:79223246-79223757	HUVEC	blood vessel:	n/a	n/a
12	SP1	chr15:79223038-79223800	HCT-116	colon:	n/a	n/a
13	FOS	chr15:79223172-79223648	MCF10A-Er-Src	breast:	n/a	n/a
14	TEAD4	chr15:79223166-79223690	K562	blood:	n/a	n/a
15	NFIC	chr15:79223159-79223709	SK-N-SH	brain:	n/a	n/a
16	SP1	chr15:79223055-79223760	A549	lung:	n/a	n/a
17	RAD21	chr15:79223282-79223688	IMR90	lung:	n/a	n/a
18	CEBPB	chr15:79223292-79223639	IMR90	lung:	n/a	n/a
19	ARID3A	chr15:79223361-79223639	K562	blood:	n/a	n/a
20	POLR2A	chr15:79222919-79226313	GM12878	blood:	n/a	n/a
21	POLR2A	chr15:79222881-79224345	PANC-1	pancreas:	n/a	n/a
22	CHD2	chr15:79223286-79223662	Hela-S3	cervix:	n/a	n/a
23	GATA3	chr15:79223003-79223939	A549	lung:	n/a	n/a
24	SMC3	chr15:79223269-79223651	Hela-S3	cervix:	n/a	n/a
25	ZKSCAN1	chr15:79223269-79223610	Hela-S3	cervix:	n/a	n/a
26	MYC	chr15:79223328-79223450	MCF-7	breast:	n/a	n/a
27	EP300	chr15:79223320-79223607	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr15:79223259-79223605	U87	brain:	n/a	n/a
29	E2F4	chr15:79223241-79223698	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr15:79223254-79223620	U87	brain:	n/a	n/a
31	RCOR1	chr15:79223234-79223641	K562	blood:	n/a	n/a
32	GATA3	chr15:79223001-79223800	SK-N-SH	brain:	n/a	n/a
33	BRCA1	chr15:79223374-79223622	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr15:79223095-79223596	K562	blood:	n/a	n/a
35	HDAC2	chr15:79223163-79223759	MCF-7	breast:	n/a	n/a
36	MYC	chr15:79223238-79223624	MCF-7	breast:	n/a	n/a
37	MTA3	chr15:79222873-79223575	GM12878	blood:	n/a	n/a
38	RXRA	chr15:79222991-79223768	SK-N-SH	brain:	n/a	chr15:79223410-79223426
39	POLR2A	chr15:79223174-79223585	K562	blood:	n/a	n/a
40	CEBPB	chr15:79223284-79223665	Hela-S3	cervix:	n/a	n/a
41	PBX3	chr15:79223102-79223794	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr15:79222915-79225729	K562	blood:	n/a	n/a
43	POLR2A	chr15:79217306-79227452	GM12892	blood:	n/a	n/a
44	FOS	chr15:79223109-79223696	MCF10A-Er-Src	breast:	n/a	n/a
45	YY1	chr15:79223250-79223565	HCT-116	colon:	n/a	n/a
46	RFX5	chr15:79223302-79223630	Hela-S3	cervix:	n/a	n/a
47	GATA2	chr15:79223089-79223711	SH-SY5Y	brain:	n/a	n/a
48	YY1	chr15:79223159-79223678	SK-N-SH_RA	brain:	n/a	n/a
49	CBX3	chr15:79223281-79223639	K562	blood:	n/a	n/a
50	POLR2A	chr15:79223041-79223605	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79215921..79218148-chr15:79221781..79223713,2	MCF-7	breast:
2	chr15:79221080..79223572-chr15:79328024..79330400,2	MCF-7	breast:
3	chr15:79211630..79213704-chr15:79221735..79223665,2	K562	blood:
4	chr15:79215592..79220788-chr15:79222055..79225592,6	MCF-7	breast:
5	chr15:79219205..79223895-chr15:79234790..79239038,6	MCF-7	breast:
6	chr15:79204348..79206445-chr15:79222058..79224035,2	MCF-7	breast:
7	chr15:79223240..79225058-chr15:79235224..79237418,3	MCF-7	breast:
8	chr15:79221955..79223655-chr15:79245132..79248487,3	MCF-7	breast:
9	chr15:79222672..79226174-chr15:79226685..79229932,5	K562	blood:
10	chr15:79222345..79225252-chr15:79235201..79237549,2	K562	blood:

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10152868	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12440862	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12441725	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16970287	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2289695	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2289697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289700	1.00[EUR][1000 genomes]
rs3784537	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784538	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3784540	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825931	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58119858	0.88[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs60888706	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60944855	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7161986	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7163828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7182836	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73470389	0.99[EUR][1000 genomes]
rs8034542	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8039683	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9302286	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2289698	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79199800-79229400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr15:79203600-79231000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr15:79205400-79227800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:79205800-79223600	Weak transcription	Stomach Mucosa	stomach
5	chr15:79209800-79225800	Strong transcription	Fetal Stomach	stomach
6	chr15:79210000-79226600	Strong transcription	Duodenum Mucosa	Duodenum
7	chr15:79210000-79227200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr15:79210200-79227000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr15:79210200-79228200	Strong transcription	GM12878-XiMat	blood
10	chr15:79210400-79226200	Strong transcription	Fetal Intestine Small	intestine
11	chr15:79210400-79228000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:79210400-79230200	Strong transcription	Fetal Intestine Large	intestine
13	chr15:79212200-79226000	Weak transcription	Fetal Brain Male	brain
14	chr15:79213400-79228400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:79214600-79229400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr15:79215400-79233200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr15:79215400-79236600	Weak transcription	Small Intestine	intestine
18	chr15:79215600-79229400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr15:79215600-79232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr15:79215800-79229600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr15:79217200-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:79218400-79223600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr15:79219400-79229400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr15:79219400-79229600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:79219600-79225800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr15:79219600-79226400	Weak transcription	Fetal Brain Female	brain
27	chr15:79219600-79236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:79219800-79226000	Weak transcription	Fetal Kidney	kidney
29	chr15:79219800-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr15:79220200-79224600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr15:79220200-79224800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:79220200-79226000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr15:79220200-79226600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr15:79220200-79227000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr15:79220200-79229200	Weak transcription	Dnd41	blood
36	chr15:79220200-79229600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr15:79220200-79229600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr15:79220200-79230600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr15:79220200-79231800	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr15:79220200-79235200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:79220400-79223600	Weak transcription	Brain Substantia Nigra	brain
42	chr15:79220400-79225800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr15:79220600-79223800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr15:79220600-79224800	Weak transcription	Brain Anterior Caudate	brain
45	chr15:79220600-79225200	Weak transcription	Primary B cells from cord blood	blood
46	chr15:79220600-79225400	Weak transcription	Brain Hippocampus Middle	brain
47	chr15:79220600-79225600	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr15:79220600-79225800	Strong transcription	Gastric	stomach
49	chr15:79220600-79226000	Weak transcription	Aorta	Aorta
50	chr15:79220600-79229400	Weak transcription	Primary T cells from cord blood	blood

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