Variant report

Variant	rs62013231
Chromosome Location	chr15:79242581-79242582
allele	C/T
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	MYBL2	chr15:79242578-79243002	HepG2	liver:	n/a	n/a
2	NR3C1	chr15:79242452-79242926	A549	lung:	n/a	chr15:79242737-79242763 chr15:79242737-79242763 chr15:79242716-79242730 chr15:79242737-79242763 chr15:79242737-79242763
3	POLR2A	chr15:79242511-79242678	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:79223545..79225984-chr15:79241136..79243673,2	MCF-7	breast:
2	chr15:79242274..79244417-chr15:79247042..79249871,2	MCF-7	breast:
3	chr15:79242281..79244797-chr15:79245388..79247150,2	K562	blood:

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

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11072819	0.88[ASN][1000 genomes]
rs16970344	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4779153	0.93[ASN][1000 genomes]
rs55658494	0.89[EUR][1000 genomes]
rs56148823	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56248637	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56289610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60250730	0.82[ASN][1000 genomes]
rs62013229	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62013230	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62013236	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62013237	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62013238	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7174314	0.88[AMR][1000 genomes]
rs7175785	0.89[ASN][1000 genomes]
rs8035576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs876941	0.88[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
rs62013231	CTSH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79237800-79242600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr15:79237800-79243600	Weak transcription	Right Atrium	heart
3	chr15:79237800-79243600	Weak transcription	Spleen	Spleen
4	chr15:79237800-79244200	Weak transcription	Psoas Muscle	Psoas
5	chr15:79238000-79243200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:79238000-79243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:79238600-79244200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr15:79238600-79252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr15:79239000-79243600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:79239800-79243200	Enhancers	HepG2	liver
11	chr15:79240800-79245400	Enhancers	Stomach Mucosa	stomach
12	chr15:79241000-79245200	Enhancers	Liver	Liver
13	chr15:79241600-79244000	Enhancers	NHEK	skin
14	chr15:79241600-79244200	Enhancers	Gastric	stomach
15	chr15:79241600-79245000	Enhancers	Pancreas	Pancrea
16	chr15:79241800-79242800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:79241800-79242800	Enhancers	Fetal Intestine Small	intestine
18	chr15:79241800-79244800	Enhancers	Fetal Intestine Large	intestine
19	chr15:79242000-79245400	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:79242200-79242600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr15:79242200-79242600	Enhancers	Esophagus	oesophagus
22	chr15:79242200-79242800	Enhancers	Small Intestine	intestine
23	chr15:79242200-79244400	Enhancers	Fetal Kidney	kidney
24	chr15:79242200-79244800	Enhancers	Lung	lung
25	chr15:79242400-79242600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:79242400-79242800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr15:79242400-79243400	Weak transcription	Fetal Lung	lung
28	chr15:79242400-79243800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:79242400-79244000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr15:79242400-79244200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr15:79242400-79244400	Enhancers	Adipose Nuclei	Adipose
32	chr15:79242400-79244800	Enhancers	Left Ventricle	heart

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