Variant report

Variant	rs16970344
Chromosome Location	chr15:79241976-79241977
allele	A/G
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	ZNF217	chr15:79241833-79242135	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79223545..79225984-chr15:79241136..79243673,2	MCF-7	breast:
2	chr15:79236829..79239228-chr15:79240562..79242151,2	K562	blood:

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

Extended variants
information (count: 23 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11072819	0.80[CEU][hapmap];1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs13345	0.80[ASN][1000 genomes]
rs16970287	0.83[JPT][hapmap]
rs2289695	0.83[JPT][hapmap]
rs2289697	0.83[JPT][hapmap]
rs4779153	0.95[ASN][1000 genomes]
rs55658494	0.96[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs56148823	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56248637	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56289610	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60250730	0.83[ASN][1000 genomes]
rs62013229	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62013230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62013231	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];0.88[ASN][1000 genomes]
rs62013237	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62013238	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7174314	0.87[TSI][hapmap];0.88[AMR][1000 genomes]
rs7175785	0.88[ASN][1000 genomes]
rs8034542	0.83[JPT][hapmap]
rs8035576	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs876941	0.81[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.87[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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs16970344	CTSH	Cis_1M	lymphoblastoid	RTeQTL
rs16970344	CTSH	cis	lymphoblastoid	seeQTL
rs16970344	TSPAN3	cis	parietal	SCAN
rs16970344	MORF4L1	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79237800-79242200	Weak transcription	Esophagus	oesophagus
2	chr15:79237800-79242200	Weak transcription	Fetal Kidney	kidney
3	chr15:79237800-79242400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr15:79237800-79242600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:79237800-79243600	Weak transcription	Right Atrium	heart
6	chr15:79237800-79243600	Weak transcription	Spleen	Spleen
7	chr15:79237800-79244200	Weak transcription	Psoas Muscle	Psoas
8	chr15:79238000-79242000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr15:79238000-79242000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:79238000-79242200	Weak transcription	Lung	lung
11	chr15:79238000-79242400	Weak transcription	Adipose Nuclei	Adipose
12	chr15:79238000-79243200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr15:79238000-79243400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr15:79238600-79244200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:79238600-79252600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr15:79239000-79243600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:79239800-79243200	Enhancers	HepG2	liver
18	chr15:79240800-79245400	Enhancers	Stomach Mucosa	stomach
19	chr15:79241000-79245200	Enhancers	Liver	Liver
20	chr15:79241400-79242200	Weak transcription	Small Intestine	intestine
21	chr15:79241600-79244000	Enhancers	NHEK	skin
22	chr15:79241600-79244200	Enhancers	Gastric	stomach
23	chr15:79241600-79245000	Enhancers	Pancreas	Pancrea
24	chr15:79241800-79242400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:79241800-79242400	Weak transcription	Left Ventricle	heart
26	chr15:79241800-79242800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr15:79241800-79242800	Enhancers	Fetal Intestine Small	intestine
28	chr15:79241800-79244800	Enhancers	Fetal Intestine Large	intestine

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