Variant report

Variant	rs28699989
Chromosome Location	chr15:79222642-79222643
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:79210927-79227564	K562	blood:	n/a	n/a
2	POLR2A	chr15:79221210-79222676	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:79217306-79227452	GM12892	blood:	n/a	n/a
4	POLR2A	chr15:79221094-79222673	GM12892	blood:	n/a	n/a
5	POLR2A	chr15:79217342-79222654	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:79211550-79222698	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:79210815-79222697	GM12891	blood:	n/a	n/a
8	MTA3	chr15:79221708-79222644	GM12878	blood:	n/a	n/a
9	HA-E2F1	chr15:79222121-79222664	MCF-7	breast:	n/a	n/a
10	EP300	chr15:79222323-79222665	T-47D	breast:	n/a	chr15:79222328-79222338 chr15:79222536-79222545 chr15:79222558-79222568
11	GATA3	chr15:79222261-79222642	T-47D	breast:	n/a	n/a
12	POLR2A	chr15:79220890-79222657	GM12878	blood:	n/a	n/a
13	POLR2A	chr15:79217215-79222665	PANC-1	pancreas:	n/a	n/a
14	POLR2A	chr15:79217321-79222679	GM18505	blood:	n/a	n/a
15	POLR2A	chr15:79221937-79222667	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr15:79221621-79222666	HepG2	liver:	n/a	n/a
17	FOXA1	chr15:79222274-79222726	T-47D	breast:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79215921..79218148-chr15:79221781..79223713,2	MCF-7	breast:
2	chr15:79221142..79223357-chr15:79270700..79272228,2	K562	blood:
3	chr15:79220618..79223351-chr15:79275432..79277828,3	K562	blood:
4	chr15:79221080..79223572-chr15:79328024..79330400,2	MCF-7	breast:
5	chr15:79221775..79223364-chr15:79294791..79297170,2	MCF-7	breast:
6	chr15:79211630..79213704-chr15:79221735..79223665,2	K562	blood:
7	chr15:79221332..79223265-chr15:79228194..79229994,2	MCF-7	breast:
8	chr15:79215592..79220788-chr15:79222055..79225592,6	MCF-7	breast:
9	chr15:79219205..79223895-chr15:79234790..79239038,6	MCF-7	breast:
10	chr15:79204348..79206445-chr15:79222058..79224035,2	MCF-7	breast:
11	chr15:79221955..79223655-chr15:79245132..79248487,3	MCF-7	breast:
12	chr15:79221168..79222988-chr15:79241006..79242698,2	MCF-7	breast:
13	chr15:79164488..79167001-chr15:79221221..79222994,2	K562	blood:
14	chr15:79222345..79225252-chr15:79235201..79237549,2	K562	blood:
15	chr15:79206363..79206930-chr15:79221801..79222652,2	MCF-7	breast:

No data

Variant related genes	Relation type
CTSH	TF binding region
ENSG00000058335	Chromatin interaction
ENSG00000177699	Chromatin interaction
ENSG00000185787	Chromatin interaction
ENSG00000103811	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs13345	0.87[EUR][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
rs28699989	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 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	chr15:79208200-79223000	Weak transcription	Right Atrium	heart
6	chr15:79208600-79223000	Weak transcription	Hela-S3	cervix
7	chr15:79209800-79225800	Strong transcription	Fetal Stomach	stomach
8	chr15:79210000-79226600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr15:79210000-79227200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr15:79210200-79227000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr15:79210200-79228200	Strong transcription	GM12878-XiMat	blood
12	chr15:79210400-79226200	Strong transcription	Fetal Intestine Small	intestine
13	chr15:79210400-79228000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:79210400-79230200	Strong transcription	Fetal Intestine Large	intestine
15	chr15:79212200-79226000	Weak transcription	Fetal Brain Male	brain
16	chr15:79213400-79228400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:79214600-79223000	Weak transcription	NHDF-Ad	bronchial
18	chr15:79214600-79229400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:79214800-79223200	Weak transcription	Psoas Muscle	Psoas
20	chr15:79215200-79223000	Weak transcription	A549	lung
21	chr15:79215400-79223400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr15:79215400-79233200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:79215400-79236600	Weak transcription	Small Intestine	intestine
24	chr15:79215600-79223000	Weak transcription	NH-A	brain
25	chr15:79215600-79229400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr15:79215600-79232800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr15:79215800-79229600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr15:79216000-79223000	Weak transcription	Fetal Lung	lung
29	chr15:79216000-79223000	Weak transcription	HUVEC	blood vessel
30	chr15:79217200-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:79218400-79223000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr15:79218400-79223600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr15:79219400-79229400	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr15:79219400-79229600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:79219600-79225800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:79219600-79226400	Weak transcription	Fetal Brain Female	brain
37	chr15:79219600-79236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:79219800-79226000	Weak transcription	Fetal Kidney	kidney
39	chr15:79219800-79229400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr15:79220000-79223000	Weak transcription	K562	blood
41	chr15:79220200-79223000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:79220200-79223000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:79220200-79223000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:79220200-79223000	Weak transcription	Fetal Thymus	thymus
45	chr15:79220200-79223200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr15:79220200-79223200	Strong transcription	Spleen	Spleen
47	chr15:79220200-79224600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr15:79220200-79224800	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:79220200-79226000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:79220200-79226600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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