Variant report

Variant	rs34843303
Chromosome Location	chr15:79234470-79234471
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	ZNF384	chr15:79233731-79234493	GM12878	blood:	n/a	n/a
2	MTA3	chr15:79234136-79237503	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:79234196-79235663	GM12878	blood:	n/a	n/a
4	POLR2A	chr15:79234106-79237782	GM18505	blood:	n/a	n/a
5	POLR2A	chr15:79233791-79237784	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:79233794-79237777	GM12891	blood:	n/a	n/a
7	POLR2A	chr15:79233807-79237862	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:79234307-79234514	GM12878	blood:	n/a	n/a
9	WRNIP1	chr15:79234325-79234522	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:79164191..79167117-chr15:79232695..79235320,2	K562	blood:
2	chr15:79218946..79220515-chr15:79233949..79236109,2	MCF-7	breast:
3	chr15:79228459..79231609-chr15:79232688..79237314,4	K562	blood:

Variant related genes	Relation type
CTSH	TF binding region
ENSG00000103811	Chromatin interaction
ENSG00000185787	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12148472	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12592898	0.81[EUR][1000 genomes]
rs2289702	0.96[EUR][1000 genomes]
rs34593439	0.96[EUR][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
rs34843303	CTSH	cis	Whole Blood	GTEx
rs34843303	CTSH	Cis_1M	lymphoblastoid	RTeQTL
rs34843303	CTSH	cis	Artery Tibial	GTEx
rs34843303	CTSH	cis	brain	BrainEAC

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:79215400-79236600	Weak transcription	Small Intestine	intestine
2	chr15:79219600-79236200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:79220200-79235200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:79220600-79236200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:79220600-79236400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:79222400-79236400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:79223800-79236000	Weak transcription	HSMMtube	muscle
8	chr15:79223800-79236200	Weak transcription	Brain Angular Gyrus	brain
9	chr15:79224200-79236400	Weak transcription	Colonic Mucosa	Colon
10	chr15:79224400-79236600	Weak transcription	HMEC	breast
11	chr15:79224600-79236200	Weak transcription	Psoas Muscle	Psoas
12	chr15:79225600-79236400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:79226400-79236000	Weak transcription	Fetal Kidney	kidney
14	chr15:79226600-79236200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr15:79227000-79236000	Weak transcription	Colon Smooth Muscle	Colon
16	chr15:79227200-79236000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr15:79227200-79236200	Weak transcription	Placenta	Placenta
18	chr15:79227400-79234800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr15:79227400-79236400	Weak transcription	Aorta	Aorta
20	chr15:79227400-79236600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr15:79227600-79236200	Weak transcription	Right Ventricle	heart
22	chr15:79228000-79236000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr15:79228200-79235400	Weak transcription	Brain Anterior Caudate	brain
24	chr15:79229800-79236200	Weak transcription	Esophagus	oesophagus
25	chr15:79230000-79235000	Weak transcription	Brain Hippocampus Middle	brain
26	chr15:79230000-79235600	Weak transcription	Fetal Stomach	stomach
27	chr15:79230000-79235600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:79230000-79235600	Weak transcription	Stomach Mucosa	stomach
29	chr15:79230000-79236200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr15:79230200-79236000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:79230200-79236000	Weak transcription	Fetal Intestine Large	intestine
32	chr15:79230200-79236200	Weak transcription	Pancreas	Pancrea
33	chr15:79230200-79236200	Weak transcription	Spleen	Spleen
34	chr15:79230200-79236400	Weak transcription	Ovary	ovary
35	chr15:79230200-79236600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr15:79230400-79235200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr15:79231000-79236400	Weak transcription	Brain Substantia Nigra	brain
38	chr15:79231200-79235200	Weak transcription	Liver	Liver
39	chr15:79231400-79236000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr15:79231800-79236200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr15:79232000-79234800	Weak transcription	HepG2	liver
42	chr15:79232000-79234800	Weak transcription	K562	blood
43	chr15:79232000-79235600	Enhancers	Primary B cells from peripheral blood	blood
44	chr15:79232000-79236000	Enhancers	Primary B cells from cord blood	blood
45	chr15:79232000-79236800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr15:79232200-79236000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:79232200-79236200	Weak transcription	Left Ventricle	heart
48	chr15:79232200-79236400	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr15:79232400-79235000	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr15:79232400-79235200	Weak transcription	Adipose Nuclei	Adipose

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