Variant report

Variant	rs17255063
Chromosome Location	chr14:22336763-22336764
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	CTCF	chr14:22336740-22336890	GM12864	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
2	CTCF	chr14:22336740-22336890	K562	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
3	CTCF	chr14:22336740-22336890	AG09319	gingival:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
4	CTCF	chr14:22336740-22336890	GM12874	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
5	RAD21	chr14:22336686-22336935	SK-N-SH_RA	brain:	n/a	chr14:22336816-22336825 chr14:22336813-22336827 chr14:22336817-22336829 chr14:22336812-22336831
6	CTCF	chr14:22336740-22336890	AoAF	blood vessel:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
7	CTCF	chr14:22336740-22336890	AG09309	skin:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
8	CTCF	chr14:22336760-22336910	GM12865	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
9	CTCF	chr14:22336700-22336850	HRE	kidney:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
10	CTCF	chr14:22336692-22336977	ECC-1	luminal epithelium:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
11	CTCF	chr14:22336672-22336961	HUVEC	blood vessel:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
12	CTCF	chr14:22336722-22336911	MCF-7	breast:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
13	CTCF	chr14:22336760-22336910	GM06990	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
14	CTCF	chr14:22336740-22336890	NB4	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
15	CTCF	chr14:22336664-22337013	H1-hESC	embryonic stem cell:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
16	CTCF	chr14:22336696-22336930	GM19238	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
17	CTCF	chr14:22336740-22336890	AG04450	lung:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
18	CTCF	chr14:22336720-22336870	GM12867	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
19	RAD21	chr14:22336693-22336984	IMR90	lung:	n/a	chr14:22336816-22336825 chr14:22336813-22336827 chr14:22336817-22336829 chr14:22336812-22336831
20	CTCF	chr14:22336740-22336890	MCF-7	breast:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
21	CTCF	chr14:22336760-22336910	WI-38	lung:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
22	CTCF	chr14:22336700-22336850	GM12871	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
23	CTCF	chr14:22336740-22336890	GM12878	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
24	CTCF	chr14:22336760-22336910	GM12875	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
25	FOS	chr14:22335567-22337254	HUVEC	blood vessel:	n/a	chr14:22336641-22336651 chr14:22335960-22335968 chr14:22336641-22336651 chr14:22335958-22335969 chr14:22336642-22336649 chr14:22336641-22336651 chr14:22336642-22336650 chr14:22335926-22335937 chr14:22335959-22335969 chr14:22335923-22335934 chr14:22336642-22336650
26	BHLHE40	chr14:22336665-22336765	GM12878	blood:	n/a	n/a
27	RAD21	chr14:22336716-22336852	K562	blood:	n/a	chr14:22336816-22336825 chr14:22336813-22336827 chr14:22336817-22336829 chr14:22336812-22336831
28	CTCF	chr14:22336685-22336948	K562	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
29	CTCF	chr14:22336760-22336910	Hela-S3	cervix:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
30	RAD21	chr14:22336548-22337154	HCT-116	colon:	n/a	chr14:22336816-22336825 chr14:22336813-22336827 chr14:22336817-22336829 chr14:22336812-22336831
31	STAT3	chr14:22336666-22336905	MCF10A-Er-Src	breast:	n/a	n/a
32	CTCF	chr14:22336698-22336947	GM19239	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
33	CTCF	chr14:22336717-22336973	ECC-1	luminal epithelium:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
34	CTCF	chr14:22336740-22336890	AG04449	skin:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
35	RAD21	chr14:22336559-22337016	HepG2	liver:	n/a	chr14:22336816-22336825 chr14:22336813-22336827 chr14:22336817-22336829 chr14:22336812-22336831
36	CTCF	chr14:22336699-22336932	Pancreas_OC	pancreas:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
37	STAT3	chr14:22336544-22336884	MCF10A-Er-Src	breast:	n/a	n/a
38	RCOR1	chr14:22336657-22336976	K562	blood:	n/a	n/a
39	CTCF	chr14:22336600-22337049	HepG2	liver:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
40	RAD21	chr14:22336510-22337082	MCF-7	breast:	n/a	chr14:22336816-22336825 chr14:22336813-22336827 chr14:22336817-22336829 chr14:22336812-22336831
41	SMC3	chr14:22336652-22336986	Hela-S3	cervix:	n/a	chr14:22336813-22336827
42	GTF2F1	chr14:22336747-22336934	H1-hESC	embryonic stem cell:	n/a	n/a
43	FOS	chr14:22336647-22336862	MCF10A-Er-Src	breast:	n/a	n/a
44	CTCF	chr14:22336760-22336910	HEK293	kidney:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
45	CTCF	chr14:22336467-22337041	SK-N-SH	brain:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
46	CTCF	chr14:22336677-22336969	Spleen_OC	spleen:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
47	CTCF	chr14:22336699-22336955	GM10248	blood:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
48	RAD21	chr14:22336625-22337065	A549	lung:	n/a	chr14:22336816-22336825 chr14:22336813-22336827 chr14:22336817-22336829 chr14:22336812-22336831
49	CTCF	chr14:22336740-22336890	HCPEpiC	choroid plexus:	n/a	chr14:22336811-22336829 chr14:22336812-22336828 chr14:22336813-22336834
50	RAD21	chr14:22336659-22337080	A549	lung:	n/a	chr14:22336816-22336825 chr14:22336813-22336827 chr14:22336817-22336829 chr14:22336812-22336831

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22217192..22217714-chr14:22336654..22337322,2	MCF-7	breast:

Variant related genes	Relation type
TRAV13-1	TF binding region
ENSG00000211779	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10142979	1.00[TSI][hapmap]
rs17182844	0.89[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17182853	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2242534	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242535	0.88[CHB][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242536	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2242537	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2280752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2293711	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34396626	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34529030	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36036881	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3817625	1.00[TSI][hapmap]
rs61742979	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61745106	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73590500	0.87[ASN][1000 genomes]
rs926029	0.88[CHB][hapmap];0.88[CHD][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042309	chr14:22042511-22866936	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	90 gene(s)	inside rSNPs	diseases
2	nsv563852	chr14:22205447-22344160	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1037902	chr14:22229021-22354103	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv832741	chr14:22235781-22413637	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3387723	chr14:22255284-22397765	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv430885	chr14:22267491-22975700	Enhancers Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	124 gene(s)	inside rSNPs	diseases
7	nsv524527	chr14:22288841-22387318	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv430886	chr14:22290777-22975700	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
9	nsv1045059	chr14:22299148-22911214	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	diseases
10	nsv916328	chr14:22299151-22793429	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
11	nsv430887	chr14:22299981-23069853	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	173 gene(s)	inside rSNPs	diseases
12	nsv832742	chr14:22307760-22501748	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	esv3376001	chr14:22309888-22356663	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	esv3510505	chr14:22315317-22363164	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
15	esv3510506	chr14:22315317-22363164	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv533184	chr14:22322590-22964922	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
17	esv3374852	chr14:22323324-22376470	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
18	esv3406578	chr14:22323357-22384327	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv3487255	chr14:22323369-22376353	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
20	esv9521	chr14:22323390-22376500	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	esv3487256	chr14:22323425-22376244	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv430888	chr14:22328266-22974256	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	118 gene(s)	inside rSNPs	diseases
23	nsv826884	chr14:22329745-23005270	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	147 gene(s)	inside rSNPs	diseases
24	nsv826885	chr14:22329745-23005311	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	147 gene(s)	inside rSNPs	diseases
25	nsv826887	chr14:22330625-22998976	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	142 gene(s)	inside rSNPs	diseases
26	nsv520616	chr14:22336763-22354769	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17255063	NRN1	trans	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22321400-22340800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:22323200-22337000	Weak transcription	Fetal Thymus	thymus
3	chr14:22332600-22336800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr14:22332600-22336800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr14:22332600-22336800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr14:22332800-22337000	Weak transcription	Primary T cells from cord blood	blood
7	chr14:22334000-22336800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:22334000-22336800	Enhancers	HMEC	breast
9	chr14:22334000-22337200	Enhancers	HUVEC	blood vessel
10	chr14:22334200-22337000	Weak transcription	Thymus	Thymus
11	chr14:22334600-22336800	Enhancers	NHEK	skin
12	chr14:22334800-22339400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:22336000-22337000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr14:22336200-22337200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:22336400-22337400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:22336400-22337400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr14:22336600-22337200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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