Variant report

Variant	rs1006958
Chromosome Location	chr17:16282454-16282455
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:122)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:16281869-16282466	MCF-7	breast:	n/a	chr17:16282206-16282217

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16282410-16282460	HPAEpiC	pulmonary alveolar:	n/a
2	chr17:16282410-16282460	HL-60	blood:	n/a
3	chr17:16282434-16282484	AG09309	skin:	n/a
4	chr17:16282434-16282484	HPAEpiC	pulmonary alveolar:	n/a
5	chr17:16282434-16282484	RPTEC	kidney:	n/a
6	chr17:16282410-16282460	AG04450	lung:	fetal
7	chr17:16282410-16282460	ProgFib	skin:	n/a
8	chr17:16282434-16282484	MCF10A-Er-Src	breast:	n/a
9	chr17:16282410-16282460	HCPEpiC	choroid plexus:	n/a
10	chr17:16282434-16282484	HNPCEpiC	eye:	n/a
11	chr17:16282410-16282460	U87	brain:	n/a
12	chr17:16282434-16282484	HL-60	blood:	n/a
13	chr17:16282410-16282460	PANC-1	pancreas:	n/a
14	chr17:16282410-16282460	ovcar-3	ovarian:	n/a
15	chr17:16282434-16282484	H1-hESC	embryonic stem cell:	embryo
16	chr17:16282434-16282484	SK-N-SH	brain:	n/a
17	chr17:16282410-16282460	NHDF-neo	bronchial:	n/a
18	chr17:16282434-16282484	CMK	blood:	n/a
19	chr17:16282410-16282460	ECC-1	luminal epithelium:	n/a
20	chr17:16282434-16282484	GM12878	blood:	n/a
21	chr17:16282410-16282460	HCT-116	colon:	n/a
22	chr17:16282434-16282484	GM19239	blood:	n/a
23	chr17:16282434-16282484	HEEpiC	esophagus:	n/a
24	chr17:16282434-16282484	ProgFib	skin:	n/a
25	chr17:16282410-16282460	GM12891	blood:	n/a
26	chr17:16282434-16282484	HMEC	breast:	n/a
27	chr17:16282410-16282460	HNPCEpiC	eye:	n/a
28	chr17:16282434-16282484	HAEpiC	amniotic membrane:	n/a
29	chr17:16282410-16282460	NHBE	bronchial:	n/a
30	chr17:16282410-16282460	RPTEC	kidney:	n/a
31	chr17:16282434-16282484	HCT-116	colon:	n/a
32	chr17:16282434-16282484	SK-N-SH_RA	brain:	n/a
33	chr17:16282410-16282460	AG10803	skin:	n/a
34	chr17:16282410-16282460	Hela-S3	cervix:	n/a
35	chr17:16282410-16282460	GM06990	blood:	n/a
36	chr17:16282434-16282484	HRPEpiC	eye:	n/a
37	chr17:16282410-16282460	NT2-D1	testis:	n/a
38	chr17:16282410-16282460	HEK293	kidney:	embryo
39	chr17:16282410-16282460	HRPEpiC	eye:	n/a
40	chr17:16282410-16282460	NH-A	brain:	n/a
41	chr17:16282410-16282460	Caco-2	colon:	n/a
42	chr17:16282434-16282484	LNCaP	prostate:	n/a
43	chr17:16282434-16282484	HEK293	kidney:	embryo
44	chr17:16282434-16282484	SAEC	small airway:	n/a
45	chr17:16282410-16282460	HUVEC	blood vessel:	n/a
46	chr17:16282434-16282484	PFSK-1	brain:	n/a
47	chr17:16282410-16282460	HRCEpiC	kidney:	n/a
48	chr17:16282410-16282460	NB4	blood:	n/a
49	chr17:16282434-16282484	HRCEpiC	kidney:	n/a
50	chr17:16282434-16282484	AG04450	lung:	fetal

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:16280844..16288183-chr17:16338320..16344372,17	MCF-7	breast:
2	chr17:16115684..16120775-chr17:16282002..16285784,4	MCF-7	breast:
3	chr17:16282285..16286163-chr17:16348924..16355139,5	K562	blood:
4	chr17:16184982..16187700-chr17:16281026..16283855,2	K562	blood:
5	chr17:16281117..16284005-chr17:16388491..16391199,2	MCF-7	breast:
6	chr17:16282157..16292955-chr17:16316721..16324527,22	K562	blood:
7	chr17:16282005..16293050-chr17:16338399..16351573,30	MCF-7	breast:
8	chr17:16282157..16291704-chr17:16317315..16324527,14	K562	blood:

No data

Variant related genes	Relation type
UBB	TF binding region
UBB	CpG island
ENSG00000221355	Chromatin interaction
ENSG00000187688	Chromatin interaction
ENSG00000264739	Chromatin interaction
ENSG00000181350	Chromatin interaction
ENSG00000266651	Chromatin interaction
ENSG00000108474	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000141027	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs16959784	1.00[TSI][hapmap]
rs16959832	1.00[TSI][hapmap]
rs57100283	1.00[EUR][1000 genomes]
rs57540884	1.00[EUR][1000 genomes]
rs57939654	1.00[EUR][1000 genomes]
rs57958152	1.00[EUR][1000 genomes]
rs58069228	1.00[EUR][1000 genomes]
rs58203269	1.00[EUR][1000 genomes]
rs58213352	1.00[EUR][1000 genomes]
rs58937503	1.00[EUR][1000 genomes]
rs59191673	1.00[EUR][1000 genomes]
rs59414015	1.00[EUR][1000 genomes]
rs59837344	1.00[EUR][1000 genomes]
rs60277322	1.00[EUR][1000 genomes]
rs60436356	1.00[EUR][1000 genomes]
rs61360753	1.00[EUR][1000 genomes]
rs61479315	1.00[EUR][1000 genomes]
rs61529373	1.00[EUR][1000 genomes]
rs7211497	1.00[TSI][hapmap]
rs7211819	1.00[TSI][hapmap]
rs7212903	1.00[EUR][1000 genomes]
rs7214389	1.00[TSI][hapmap]
rs7217230	1.00[EUR][1000 genomes]
rs7219038	1.00[EUR][1000 genomes]
rs7225649	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs73281934	1.00[EUR][1000 genomes]
rs73281961	1.00[EUR][1000 genomes]
rs73281967	1.00[EUR][1000 genomes]
rs73281977	1.00[EUR][1000 genomes]
rs73281979	1.00[EUR][1000 genomes]
rs73281980	1.00[EUR][1000 genomes]
rs73281981	1.00[EUR][1000 genomes]
rs73287023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73287032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73287067	1.00[EUR][1000 genomes]
rs73287076	1.00[EUR][1000 genomes]
rs73287082	1.00[EUR][1000 genomes]
rs73287088	1.00[EUR][1000 genomes]
rs73287090	1.00[EUR][1000 genomes]
rs73287414	1.00[EUR][1000 genomes]
rs73287419	1.00[EUR][1000 genomes]
rs73287423	1.00[EUR][1000 genomes]
rs73287425	1.00[EUR][1000 genomes]
rs73287426	1.00[EUR][1000 genomes]
rs73287441	1.00[EUR][1000 genomes]
rs73288903	1.00[EUR][1000 genomes]
rs73288904	1.00[EUR][1000 genomes]
rs8066726	1.00[EUR][1000 genomes]
rs8067000	1.00[EUR][1000 genomes]
rs8068254	1.00[EUR][1000 genomes]
rs8069679	1.00[EUR][1000 genomes]
rs8071289	1.00[EUR][1000 genomes]
rs8075170	1.00[EUR][1000 genomes]
rs8079037	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
3	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
5	nsv1063764	chr17:16171649-16662914	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
6	nsv1061463	chr17:16245878-16490691	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
7	nsv543216	chr17:16245878-16490691	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	99 gene(s)	inside rSNPs	diseases
8	nsv827903	chr17:16251979-16283760	Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1065254	chr17:16252880-16389930	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
10	nsv428668	chr17:16265210-16455285	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	89 gene(s)	inside rSNPs	diseases
11	nsv978556	chr17:16268432-16302479	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16257200-16283800	Weak transcription	Right Atrium	heart
2	chr17:16275600-16283600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:16278200-16283600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:16278400-16283600	Weak transcription	Adipose Nuclei	Adipose
5	chr17:16280200-16282800	Enhancers	Brain Hippocampus Middle	brain
6	chr17:16280800-16283800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:16280800-16283800	Enhancers	Stomach Mucosa	stomach
8	chr17:16281000-16282600	Enhancers	Liver	Liver
9	chr17:16281000-16282800	Enhancers	Hela-S3	cervix
10	chr17:16281000-16283200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr17:16281200-16282600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:16281200-16282600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:16281200-16282600	Enhancers	Brain Angular Gyrus	brain
14	chr17:16281200-16282600	Flanking Active TSS	A549	lung
15	chr17:16281200-16283400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr17:16281400-16282800	Enhancers	HMEC	breast
17	chr17:16281400-16283000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr17:16281400-16283000	Enhancers	K562	blood
19	chr17:16281400-16283600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr17:16281600-16283800	Weak transcription	Fetal Lung	lung
21	chr17:16281800-16282800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:16281800-16283200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr17:16281800-16283600	Enhancers	Brain Cingulate Gyrus	brain
24	chr17:16282000-16282600	Enhancers	Placenta	Placenta
25	chr17:16282000-16282600	Enhancers	Lung	lung
26	chr17:16282000-16282600	Enhancers	Pancreas	Pancrea
27	chr17:16282000-16282600	Enhancers	Rectal Mucosa Donor 29	rectum
28	chr17:16282000-16282600	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr17:16282000-16283200	Flanking Active TSS	HepG2	liver
30	chr17:16282000-16283400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr17:16282000-16283800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr17:16282000-16283800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr17:16282200-16282600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:16282200-16282600	Flanking Active TSS	NHEK	skin
35	chr17:16282200-16283600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr17:16282200-16283600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:16282200-16283600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:16282200-16283600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr17:16282400-16282600	Enhancers	Colonic Mucosa	Colon
40	chr17:16282400-16282600	Enhancers	Fetal Intestine Large	intestine
41	chr17:16282400-16283400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:16282400-16283600	Weak transcription	Brain Anterior Caudate	brain
43	chr17:16282400-16283600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr17:16282400-16283600	Weak transcription	Osteobl	bone
45	chr17:16282400-16283800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:16282400-16283800	Weak transcription	Brain Substantia Nigra	brain
47	chr17:16282400-16283800	Weak transcription	NHDF-Ad	bronchial
48	chr17:16282400-16283800	Weak transcription	NHLF	lung

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