Variant report

Variant	rs56248637
Chromosome Location	chr15:79243188-79243189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:79243180-79243330	HA-sp	spinal cord:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:79223545..79225984-chr15:79241136..79243673,2	MCF-7	breast:
2	chr15:79242855..79244395-chr15:79271553..79274104,2	MCF-7	breast:
3	chr15:79242274..79244417-chr15:79247042..79249871,2	MCF-7	breast:
4	chr15:79242281..79244797-chr15:79245388..79247150,2	K562	blood:
5	chr15:79238657..79240315-chr15:79242629..79245251,2	K562	blood:
6	chr15:79243049..79243885-chr15:87130991..87131736,2	MCF-7	breast:

No data

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

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11072819	0.93[ASN][1000 genomes]
rs16970344	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4779153	0.88[ASN][1000 genomes]
rs55658494	0.86[EUR][1000 genomes]
rs56148823	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56289610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62013229	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62013230	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62013231	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62013236	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62013237	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62013238	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7174314	0.88[AMR][1000 genomes]
rs7175785	0.94[ASN][1000 genomes]
rs8035576	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs876941	0.93[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
rs56248637	CTSH	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79237800-79243600	Weak transcription	Right Atrium	heart
2	chr15:79237800-79243600	Weak transcription	Spleen	Spleen
3	chr15:79237800-79244200	Weak transcription	Psoas Muscle	Psoas
4	chr15:79238000-79243200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr15:79238000-79243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:79238600-79244200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:79238600-79252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:79239000-79243600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr15:79239800-79243200	Enhancers	HepG2	liver
10	chr15:79240800-79245400	Enhancers	Stomach Mucosa	stomach
11	chr15:79241000-79245200	Enhancers	Liver	Liver
12	chr15:79241600-79244000	Enhancers	NHEK	skin
13	chr15:79241600-79244200	Enhancers	Gastric	stomach
14	chr15:79241600-79245000	Enhancers	Pancreas	Pancrea
15	chr15:79241800-79244800	Enhancers	Fetal Intestine Large	intestine
16	chr15:79242000-79245400	Enhancers	Duodenum Mucosa	Duodenum
17	chr15:79242200-79244400	Enhancers	Fetal Kidney	kidney
18	chr15:79242200-79244800	Enhancers	Lung	lung
19	chr15:79242400-79243400	Weak transcription	Fetal Lung	lung
20	chr15:79242400-79243800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:79242400-79244000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr15:79242400-79244200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr15:79242400-79244400	Enhancers	Adipose Nuclei	Adipose
24	chr15:79242400-79244800	Enhancers	Left Ventricle	heart
25	chr15:79242600-79243200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:79242600-79244000	Weak transcription	Esophagus	oesophagus
27	chr15:79242600-79245000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr15:79242800-79243600	Weak transcription	Small Intestine	intestine
29	chr15:79242800-79243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:79242800-79244000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr15:79242800-79244200	Weak transcription	Fetal Intestine Small	intestine
32	chr15:79243000-79244600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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