Variant report

Variant	rs17069140
Chromosome Location	chr5:167181506-167181507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:167181420-167181570	NHDF-neo	bronchial:	n/a	n/a
2	POLR2A	chr5:167181328-167181659	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr5:167181308-167182161	SK-N-MC	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:167181457-167181507	RPTEC	kidney:	n/a
2	chr5:167181457-167181507	GM19239	blood:	n/a
3	chr5:167181457-167181507	NHDF-neo	bronchial:	n/a
4	chr5:167181457-167181507	SK-N-SH	brain:	n/a
5	chr5:167181457-167181507	Jurkat	blood:	n/a
6	chr5:167181457-167181507	HEEpiC	esophagus:	n/a
7	chr5:167181457-167181507	ovcar-3	ovarian:	n/a
8	chr5:167181457-167181507	ProgFib	skin:	n/a
9	chr5:167181457-167181507	HRE	kidney:	n/a
10	chr5:167181457-167181507	SAEC	small airway:	n/a
11	chr5:167181457-167181507	Caco-2	colon:	n/a
12	chr5:167181457-167181507	HCPEpiC	choroid plexus:	n/a
13	chr5:167181457-167181507	ECC-1	luminal epithelium:	n/a
14	chr5:167181457-167181507	Hepatocyte	liver:	n/a
15	chr5:167181457-167181507	T-47D	breast:	n/a
16	chr5:167181457-167181507	PFSK-1	brain:	n/a
17	chr5:167181457-167181507	A549	lung:	n/a
18	chr5:167181457-167181507	H1-hESC	embryonic stem cell:	embryo
19	chr5:167181457-167181507	AoSMC	blood vessel:	n/a
20	chr5:167181457-167181507	GM12878	blood:	n/a
21	chr5:167181457-167181507	U87	brain:	n/a
22	chr5:167181457-167181507	MCF-7	breast:	n/a
23	chr5:167181457-167181507	HCM	heart:	n/a
24	chr5:167181457-167181507	AG04449	skin:	fetal
25	chr5:167181457-167181507	HPAEpiC	pulmonary alveolar:	n/a
26	chr5:167181457-167181507	BE2_C	brain:	n/a
27	chr5:167181457-167181507	LNCaP	prostate:	n/a
28	chr5:167181457-167181507	NT2-D1	testis:	n/a
29	chr5:167181457-167181507	SK-N-SH_RA	brain:	n/a
30	chr5:167181457-167181507	HCT-116	colon:	n/a
31	chr5:167181457-167181507	NHBE	bronchial:	n/a
32	chr5:167181457-167181507	HIPEpiC	eye:	n/a
33	chr5:167181457-167181507	CMK	blood:	n/a
34	chr5:167181457-167181507	IMR90	lung:	fetal
35	chr5:167181457-167181507	K562	blood:	n/a
36	chr5:167181457-167181507	AG09309	skin:	n/a
37	chr5:167181457-167181507	GM06990	blood:	n/a
38	chr5:167181457-167181507	AG04450	lung:	fetal
39	chr5:167181457-167181507	HUVEC	blood vessel:	n/a
40	chr5:167181457-167181507	HepG2	liver:	n/a
41	chr5:167181457-167181507	PANC-1	pancreas:	n/a
42	chr5:167181457-167181507	HRCEpiC	kidney:	n/a
43	chr5:167181457-167181507	HL-60	blood:	n/a
44	chr5:167181457-167181507	PrEC	prostate:	n/a
45	chr5:167181457-167181507	NB4	blood:	n/a
46	chr5:167181457-167181507	AG09319	gingival:	n/a
47	chr5:167181457-167181507	SK-N-MC	brain:	n/a
48	chr5:167181457-167181507	NH-A	brain:	n/a
49	chr5:167181457-167181507	GM12892	blood:	n/a
50	chr5:167181457-167181507	HRPEpiC	eye:	n/a

No data

Variant related genes	Relation type
TENM2	TF binding region
TENM2	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12519097	0.81[AMR][1000 genomes]
rs17069080	0.89[AMR][1000 genomes]
rs17069150	0.83[AMR][1000 genomes]
rs3749800	0.94[AMR][1000 genomes]
rs56844394	0.83[AMR][1000 genomes]
rs60893801	0.89[AMR][1000 genomes]
rs6873862	0.81[AMR][1000 genomes]
rs719254	0.84[AMR][1000 genomes]
rs73801366	0.83[AMR][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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167171600-167181800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167178200-167181800	Weak transcription	HSMMtube	muscle
3	chr5:167178200-167182000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:167178600-167182000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:167178600-167186200	Weak transcription	Osteobl	bone
6	chr5:167179000-167182000	Weak transcription	HSMM	muscle
7	chr5:167180000-167181800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:167180400-167181800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:167180400-167185200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr5:167180800-167181800	Enhancers	NHDF-Ad	bronchial
11	chr5:167181200-167181800	Enhancers	NH-A	brain
12	chr5:167181200-167182400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:167181200-167182400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:167181200-167185200	Weak transcription	NHEK	skin
15	chr5:167181400-167182000	Weak transcription	Fetal Kidney	kidney
16	chr5:167181400-167182400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr5:167181400-167183000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:167181400-167185000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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