Variant report

Variant	rs60250730
Chromosome Location	chr15:79238144-79238145
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:79238082-79238250	MCF-7	breast:	n/a	n/a
2	MYC	chr15:79238113-79238368	MCF-7	breast:	n/a	n/a

No data

(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
ENSG00000103811	Chromatin interaction
ENSG00000185787	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11072819	0.81[ASN][1000 genomes]
rs13345	0.82[ASN][1000 genomes]
rs16970344	0.83[ASN][1000 genomes]
rs4779153	0.88[ASN][1000 genomes]
rs56148823	0.85[ASN][1000 genomes]
rs62013230	0.83[ASN][1000 genomes]
rs62013231	0.82[ASN][1000 genomes]
rs7175785	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7177831	0.81[EUR][1000 genomes]
rs876941	0.81[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs60250730	CTSH	cis	multi-tissue	Pritchard
rs60250730	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79237400-79238800	Enhancers	Stomach Mucosa	stomach
2	chr15:79237600-79238800	Enhancers	Pancreas	Pancrea
3	chr15:79237800-79238200	Enhancers	Primary B cells from cord blood	blood
4	chr15:79237800-79238400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr15:79237800-79238400	Enhancers	Fetal Intestine Small	intestine
6	chr15:79237800-79238400	Enhancers	Gastric	stomach
7	chr15:79237800-79238600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:79237800-79238600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr15:79237800-79238600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:79237800-79238600	Weak transcription	HSMMtube	muscle
11	chr15:79237800-79238800	Enhancers	HepG2	liver
12	chr15:79237800-79239000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr15:79237800-79241000	Weak transcription	Liver	Liver
14	chr15:79237800-79241800	Weak transcription	Fetal Intestine Large	intestine
15	chr15:79237800-79242200	Weak transcription	Esophagus	oesophagus
16	chr15:79237800-79242200	Weak transcription	Fetal Kidney	kidney
17	chr15:79237800-79242400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr15:79237800-79242600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:79237800-79243600	Weak transcription	Right Atrium	heart
20	chr15:79237800-79243600	Weak transcription	Spleen	Spleen
21	chr15:79237800-79244200	Weak transcription	Psoas Muscle	Psoas
22	chr15:79238000-79238200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr15:79238000-79238400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr15:79238000-79238600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr15:79238000-79238600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:79238000-79239200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr15:79238000-79242000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr15:79238000-79242000	Weak transcription	Duodenum Mucosa	Duodenum
29	chr15:79238000-79242200	Weak transcription	Lung	lung
30	chr15:79238000-79242400	Weak transcription	Adipose Nuclei	Adipose
31	chr15:79238000-79243200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:79238000-79243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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