Variant report

Variant	rs2075480
Chromosome Location	chr14:22362582-22362583
allele	A/G
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	chr14:22362302-22362591	H1-hESC	embryonic stem cell:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
2	RAD21	chr14:22362263-22362677	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr14:22362232-22362612	GM12878	blood:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
4	CTCF	chr14:22362314-22362606	K562	blood:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
5	CTCF	chr14:22362212-22362587	HepG2	liver:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
6	CTCF	chr14:22362305-22362585	GM12891	blood:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
7	CTCF	chr14:22362540-22362690	HAc	cerebellar:	n/a	n/a
8	CTCF	chr14:22362153-22362710	MCF-7	breast:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
9	CTCF	chr14:22362311-22362584	MCF-7	breast:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
10	CTCF	chr14:22362307-22362584	NHEK	skin:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
11	KAP1	chr14:22362341-22362689	HEK293	kidney:	n/a	chr14:22362590-22362598
12	CTCF	chr14:22362500-22362650	GM12870	blood:	n/a	n/a
13	CTCF	chr14:22362235-22362593	K562	blood:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
14	CTCF	chr14:22362311-22362586	MCF-7	breast:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
15	CTCF	chr14:22362268-22362583	A549	lung:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
16	CTCF	chr14:22362311-22362589	GM19240	blood:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
17	CTCF	chr14:22362500-22362650	HCM	heart:	n/a	n/a
18	JUND	chr14:22361982-22362624	SK-N-SH	brain:	n/a	chr14:22362313-22362322 chr14:22362395-22362404
19	CTCF	chr14:22362309-22362592	MCF-7	breast:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
20	CTCF	chr14:22362500-22362650	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr14:22362263-22362606	H1-hESC	embryonic stem cell:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
22	CTCF	chr14:22362303-22362599	GM12892	blood:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
23	RAD21	chr14:22362262-22362611	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr14:22362520-22362670	HBMEC	blood vessel:	n/a	n/a
25	CTCF	chr14:22362332-22362584	Fibrobl	skin:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
26	RAD21	chr14:22362235-22362618	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr14:22362520-22362670	BE2_C	brain:	n/a	n/a
28	CTCF	chr14:22362291-22362594	MCF-7	breast:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
29	ZNF263	chr14:22362235-22362735	HEK293-T-REx	kidney:	n/a	chr14:22362494-22362503
30	CTCF	chr14:22362310-22362583	Gliobla	brain:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
31	RAD21	chr14:22362294-22362627	MCF-7	breast:	n/a	n/a
32	ZNF143	chr14:22362372-22362595	GM12878	blood:	n/a	n/a
33	ZNF143	chr14:22362347-22362724	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr14:22362299-22362589	GM19238	blood:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
35	CTCF	chr14:22362301-22362583	MCF-7	breast:	n/a	chr14:22362494-22362507 chr14:22362424-22362442
36	POLR2A	chr14:22362415-22362586	GM12878	blood:	n/a	n/a
37	CTCF	chr14:22362297-22362632	H1-hESC	embryonic stem cell:	n/a	chr14:22362494-22362507 chr14:22362424-22362442

Variant related genes	Relation type
TRAV8-4	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11847573	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11851408	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17182881	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2075479	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4145426	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4491419	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8012435	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8014218	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8020340	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs994827	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	nsv430889	chr14:22338141-22988571	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	134 gene(s)	inside rSNPs	diseases
24	nsv430890	chr14:22349686-22970327	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
25	nsv1038915	chr14:22352968-22991087	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	135 gene(s)	inside rSNPs	diseases
26	nsv430892	chr14:22354103-22968854	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
27	nsv901482	chr14:22356551-22392983	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22356800-22362600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr14:22356800-22362600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr14:22360600-22362600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:22362200-22362600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr14:22362200-22362800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:22362200-22362800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:22362200-22371200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:22362400-22362600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr14:22362400-22362600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:22362400-22362600	Enhancers	Fetal Thymus	thymus
11	chr14:22362400-22362800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr14:22362400-22363000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr14:22362400-22363400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr14:22362400-22364000	Active TSS	Thymus	Thymus

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