Variant report

Variant	rs11617360
Chromosome Location	chr13:76211453-76211454
allele	G/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	MXI1	chr13:76209606-76212673	IMR90	lung:	n/a	chr13:76211344-76211353
2	MAX	chr13:76210303-76211990	H1-hESC	embryonic stem cell:	n/a	chr13:76211758-76211765 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211756-76211766 chr13:76211308-76211318
3	E2F6	chr13:76209388-76211970	H1-hESC	embryonic stem cell:	n/a	chr13:76211315-76211324 chr13:76209728-76209740 chr13:76209983-76209995 chr13:76209839-76209848 chr13:76210032-76210041 chr13:76209560-76209572 chr13:76209568-76209577 chr13:76211075-76211084 chr13:76209408-76209415
4	SIN3A	chr13:76209702-76211705	H1-hESC	embryonic stem cell:	n/a	chr13:76210489-76210500 chr13:76209968-76209979 chr13:76209987-76209998
5	MAZ	chr13:76209603-76212074	IMR90	lung:	n/a	chr13:76209876-76209885 chr13:76211758-76211765 chr13:76209875-76209886 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211756-76211766 chr13:76211308-76211318
6	MAX	chr13:76211333-76211960	ECC-1	luminal epithelium:	n/a	chr13:76211758-76211765 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211756-76211766
7	CHD1	chr13:76209769-76213065	IMR90	lung:	n/a	chr13:76211314-76211324 chr13:76210708-76210718
8	MAX	chr13:76211341-76212084	SK-N-SH	brain:	n/a	chr13:76211758-76211765 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211756-76211766
9	POLR2A	chr13:76209207-76212831	ProgFib	skin:	n/a	n/a
10	MAX	chr13:76211318-76211835	H1-hESC	embryonic stem cell:	n/a	chr13:76211758-76211765 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211757-76211766 chr13:76211756-76211767 chr13:76211756-76211766
11	POLR2A	chr13:76210206-76212261	SK-N-MC	brain:	n/a	n/a
12	SIN3AK20	chr13:76211317-76211880	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr13:76211350-76212313	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76210811..76212641-chr13:76212952..76214964,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261105	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10507833	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12427985	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12430746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12869054	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1323693	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1575478	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1924176	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1983818	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2281763	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2281764	0.86[ASN][1000 genomes]
rs33991813	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34222504	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34512564	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34939695	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35915164	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61958092	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61958094	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9565180	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9573606	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9573608	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9593111	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9593112	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9593115	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9600515	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9600518	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9600521	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv976062	chr13:76206320-76211659	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3425803	chr13:76208851-76211849	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv1836179	chr13:76209779-76211623	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1838622	chr13:76209779-76211623	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11617360	UCHL3	cis	parietal	SCAN
rs11617360	RP11-173B14.5	cis	Artery Tibial	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76208000-76211600	Active TSS	Osteobl	bone
2	chr13:76208600-76211800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:76208600-76215000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:76209000-76212000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr13:76209000-76212200	Active TSS	HSMM	muscle
6	chr13:76209000-76214400	Active TSS	NHDF-Ad	bronchial
7	chr13:76209200-76211600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr13:76209200-76211800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr13:76209200-76212000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:76209200-76212200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr13:76209200-76212200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr13:76209200-76213600	Active TSS	NHLF	lung
13	chr13:76209200-76214800	Active TSS	HSMMtube	muscle
14	chr13:76209400-76211600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr13:76209400-76211600	Active TSS	Ovary	ovary
16	chr13:76209400-76211800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr13:76209400-76211800	Active TSS	Fetal Lung	lung
18	chr13:76209400-76212000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr13:76209400-76212200	Active TSS	Aorta	Aorta
20	chr13:76209600-76211600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:76209600-76211600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr13:76209600-76211600	Active TSS	Brain Substantia Nigra	brain
23	chr13:76209600-76211600	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr13:76209600-76211600	Active TSS	Fetal Heart	heart
25	chr13:76209600-76211600	Active TSS	Rectal Smooth Muscle	rectum
26	chr13:76209600-76211800	Active TSS	Thymus	Thymus
27	chr13:76209600-76212400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr13:76209800-76211600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr13:76209800-76211600	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
30	chr13:76209800-76211800	Active TSS	Brain Anterior Caudate	brain
31	chr13:76210000-76211800	Active TSS	Brain Hippocampus Middle	brain
32	chr13:76210000-76213400	Active TSS	NH-A	brain
33	chr13:76210000-76214000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr13:76210200-76212200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr13:76210400-76211600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr13:76210400-76211600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
37	chr13:76210600-76211800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr13:76210600-76211800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
39	chr13:76210600-76211800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
40	chr13:76210600-76212000	Flanking Active TSS	HUVEC	blood vessel
41	chr13:76210800-76211800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr13:76210800-76211800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr13:76210800-76211800	Bivalent/Poised TSS	Fetal Kidney	kidney
44	chr13:76211000-76211600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:76211000-76211600	Flanking Active TSS	Primary B cells from peripheral blood	blood
46	chr13:76211000-76211600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
47	chr13:76211000-76211600	Active TSS	Hela-S3	cervix
48	chr13:76211000-76211600	Active TSS	HepG2	liver
49	chr13:76211000-76211800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
50	chr13:76211000-76211800	Bivalent Enhancer	Stomach Mucosa	stomach

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