Variant report

Variant	rs3105414
Chromosome Location	chr17:16654803-16654804
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:151)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:151 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:16654616-16654854	Medullo	brain:	n/a	n/a
2	CTCF	chr17:16654660-16654810	HVMF	connective:	n/a	n/a
3	CTCF	chr17:16654510-16654864	K562	blood:	n/a	n/a
4	CTCF	chr17:16654700-16654850	HA-sp	spinal cord:	n/a	n/a
5	CTCF	chr17:16654673-16654838	GM12892	blood:	n/a	n/a
6	RAD21	chr17:16654663-16654807	GM12878	blood:	n/a	n/a
7	CTCF	chr17:16654660-16654810	HPF	lung:	n/a	n/a
8	CTCF	chr17:16654610-16654836	LNCaP	prostate:	n/a	n/a
9	CTCF	chr17:16654594-16654868	Spleen_OC	spleen:	n/a	n/a
10	EBF1	chr17:16654522-16655331	GM12878	blood:	n/a	n/a
11	CTCF	chr17:16654660-16654810	AG10803	skin:	n/a	n/a
12	CTCF	chr17:16654680-16654830	GM12864	blood:	n/a	n/a
13	CTCF	chr17:16654700-16654850	GM12865	blood:	n/a	n/a
14	CTCF	chr17:16654660-16654810	GM12870	blood:	n/a	n/a
15	CTCF	chr17:16654680-16654830	HRPEpiC	eye:	n/a	n/a
16	CTCF	chr17:16654680-16654830	NHDF-neo	bronchial:	n/a	n/a
17	CTCF	chr17:16654700-16654850	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr17:16654660-16654810	MCF-7	breast:	n/a	n/a
19	CTCF	chr17:16654577-16654875	K562	blood:	n/a	n/a
20	SP1	chr17:16654535-16654813	GM12878	blood:	n/a	n/a
21	SMC3	chr17:16654582-16654860	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr17:16654680-16654830	GM12874	blood:	n/a	n/a
23	CTCF	chr17:16654620-16654863	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr17:16654700-16654850	BE2_C	brain:	n/a	n/a
25	CTCF	chr17:16654660-16654810	AoAF	blood vessel:	n/a	n/a
26	CTCF	chr17:16654700-16654850	MCF-7	breast:	n/a	n/a
27	POLR2A	chr17:16654550-16654999	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr17:16654700-16654850	HCM	heart:	n/a	n/a
29	CTCF	chr17:16654660-16654810	HRE	kidney:	n/a	n/a
30	CTCF	chr17:16654660-16654810	A549	lung:	n/a	n/a
31	IRF4	chr17:16654531-16655043	GM12878	blood:	n/a	n/a
32	CTCF	chr17:16654592-16654846	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr17:16654680-16654830	HCFaa	heart:	n/a	n/a
34	CTCF	chr17:16654700-16654850	HCT-116	colon:	n/a	n/a
35	CTCF	chr17:16654700-16654850	HVMF	connective:	n/a	n/a
36	CTCF	chr17:16654622-16654814	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr17:16654680-16654830	WERI-Rb-1	eye:	n/a	n/a
38	CTCF	chr17:16654621-16654831	Hela-S3	cervix:	n/a	n/a
39	ZNF143	chr17:16654625-16654809	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr17:16654680-16654830	HEK293	kidney:	n/a	n/a
41	CTCF	chr17:16654680-16654830	HBMEC	blood vessel:	n/a	n/a
42	CTCF	chr17:16654644-16654816	GM13976	blood:	n/a	n/a
43	RAD21	chr17:16654580-16654863	Hela-S3	cervix:	n/a	n/a
44	ZNF143	chr17:16654611-16654859	GM12878	blood:	n/a	n/a
45	CTCF	chr17:16654680-16654830	GM12865	blood:	n/a	n/a
46	POU2F2	chr17:16654476-16655173	GM12878	blood:	n/a	n/a
47	CTCF	chr17:16654680-16654830	GM12867	blood:	n/a	n/a
48	CTCF	chr17:16654585-16654854	K562	blood:	n/a	n/a
49	CTCF	chr17:16654660-16654810	HUVEC	blood vessel:	n/a	n/a
50	RAD21	chr17:16654628-16654812	SK-N-SH_RA	brain:	n/a	n/a

No data

Variant related genes	Relation type
UPF3AP1	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11654031	0.82[ASN][1000 genomes]
rs3874848	0.85[ASN][1000 genomes]
rs3874849	0.85[ASN][1000 genomes]
rs4079127	0.84[ASN][1000 genomes]
rs9895733	0.84[ASN][1000 genomes]
rs9897283	0.81[ASN][1000 genomes]
rs9897455	0.82[ASN][1000 genomes]
rs9907213	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1058448	chr17:16389870-16926287	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	esv2758442	chr17:16527056-16817437	Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2758676	chr17:16527056-16817437	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv427991	chr17:16527056-16817437	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv907720	chr17:16557606-16758204	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	esv2756642	chr17:16571504-16734163	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv2757653	chr17:16571504-16764830	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv984504	chr17:16572370-16776542	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	esv2635467	chr17:16589774-16757904	Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv833378	chr17:16596129-16750963	Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv907721	chr17:16599123-16758204	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
13	nsv482681	chr17:16609078-16767235	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
14	nsv907722	chr17:16643881-16758204	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
15	nsv907723	chr17:16643881-16777177	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
16	nsv978474	chr17:16644356-16665370	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
17	nsv960063	chr17:16649044-16662779	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16654000-16655200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr17:16654200-16655000	Enhancers	Dnd41	blood
3	chr17:16654200-16655000	Enhancers	Osteobl	bone
4	chr17:16654600-16655400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr17:16654800-16655000	Enhancers	Brain Anterior Caudate	brain
6	chr17:16654800-16655000	Enhancers	Fetal Intestine Small	intestine
7	chr17:16654800-16655000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr17:16654800-16655200	Enhancers	Primary B cells from peripheral blood	blood
9	chr17:16654800-16655200	Enhancers	Stomach Mucosa	stomach
10	chr17:16654800-16655400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr17:16654800-16655400	Enhancers	Liver	Liver

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