Variant report

Variant	rs11632720
Chromosome Location	chr15:79169499-79169500
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	POLR2A	chr15:79169268-79170188	GM12878	blood:	n/a	n/a
2	RCOR1	chr15:79169306-79169541	K562	blood:	n/a	n/a
3	ZNF384	chr15:79169250-79169660	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:79169422-79169727	HepG2	liver:	n/a	n/a
5	POLR2A	chr15:79169269-79169510	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr15:79169483-79169507	K562	blood:	n/a	n/a
7	POLR2A	chr15:79168667-79169500	A549	lung:	n/a	n/a
8	ZNF384	chr15:79168717-79169684	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:79164137..79170280-chr15:79189650..79200289,14	K562	blood:

Variant related genes	Relation type
MORF4L1	TF binding region
ENSG00000252061	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11639335	0.86[ASN][1000 genomes]
rs4491476	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56227704	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
2	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
3	nsv904432	chr15:79066932-79175813	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11632720	CTSH	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79164600-79169800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr15:79165000-79169600	Active TSS	Rectal Smooth Muscle	rectum
3	chr15:79165000-79169800	Active TSS	NHLF	lung
4	chr15:79166200-79171400	Weak transcription	Spleen	Spleen
5	chr15:79166800-79170600	Enhancers	Sigmoid Colon	Sigmoid Colon
6	chr15:79166800-79173400	Enhancers	Fetal Heart	heart
7	chr15:79167000-79170000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:79167000-79179200	Weak transcription	Esophagus	oesophagus
9	chr15:79167200-79169800	Enhancers	Fetal Muscle Trunk	muscle
10	chr15:79167200-79170000	Enhancers	Left Ventricle	heart
11	chr15:79167200-79170800	Enhancers	Small Intestine	intestine
12	chr15:79167200-79171000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr15:79167200-79171200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr15:79167200-79172200	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr15:79167200-79178200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:79167400-79170000	Enhancers	Primary B cells from peripheral blood	blood
17	chr15:79167400-79171600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:79167400-79171800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr15:79167600-79170000	Enhancers	Fetal Thymus	thymus
20	chr15:79167600-79170800	Enhancers	Stomach Mucosa	stomach
21	chr15:79167600-79172200	Enhancers	Fetal Muscle Leg	muscle
22	chr15:79167800-79169600	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr15:79167800-79169800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:79167800-79169800	Enhancers	Fetal Brain Male	brain
25	chr15:79167800-79169800	Enhancers	Placenta	Placenta
26	chr15:79167800-79169800	Weak transcription	HSMMtube	muscle
27	chr15:79167800-79170000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:79167800-79170400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:79167800-79170400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr15:79167800-79171000	Enhancers	Primary hematopoietic stem cells	blood
31	chr15:79167800-79171000	Enhancers	Fetal Stomach	stomach
32	chr15:79167800-79171400	Enhancers	Liver	Liver
33	chr15:79167800-79172400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:79167800-79173200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:79167800-79183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr15:79168000-79169600	Weak transcription	Fetal Intestine Large	intestine
37	chr15:79168000-79169600	Enhancers	Right Ventricle	heart
38	chr15:79168000-79169800	Enhancers	Psoas Muscle	Psoas
39	chr15:79168000-79170000	Active TSS	GM12878-XiMat	blood
40	chr15:79168000-79170800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:79168000-79172400	Enhancers	Brain Substantia Nigra	brain
42	chr15:79168000-79172400	Enhancers	Fetal Lung	lung
43	chr15:79168000-79173000	Enhancers	Brain Hippocampus Middle	brain
44	chr15:79168000-79173600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr15:79168000-79174000	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr15:79168000-79174800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr15:79168200-79169600	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:79168200-79169800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:79168200-79169800	Weak transcription	HSMM	muscle
50	chr15:79168200-79169800	Enhancers	Monocytes-CD14+_RO01746	blood

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