Variant report

Variant	rs12717335
Chromosome Location	chr14:22371136-22371137
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	chr14:22371040-22371190	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr14:22371080-22371230	MCF-7	breast:	n/a	n/a
3	CTCF	chr14:22371020-22371170	GM06990	blood:	n/a	n/a
4	CTCF	chr14:22371060-22371210	GM12870	blood:	n/a	n/a
5	CTCF	chr14:22371020-22371170	NHEK	skin:	n/a	n/a
6	CTCF	chr14:22371040-22371190	GM12867	blood:	n/a	n/a
7	CTCF	chr14:22371060-22371210	A549	lung:	n/a	n/a
8	CTCF	chr14:22371080-22371230	NB4	blood:	n/a	n/a
9	CTCF	chr14:22371080-22371230	GM12872	blood:	n/a	n/a
10	CTCF	chr14:22371020-22371170	SK-N-SH_RA	brain:	n/a	n/a
11	CTCF	chr14:22371020-22371170	HRPEpiC	eye:	n/a	n/a
12	CTCF	chr14:22371060-22371210	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr14:22371080-22371230	GM12866	blood:	n/a	n/a
14	CTCF	chr14:22371080-22371230	HCT-116	colon:	n/a	n/a
15	CTCF	chr14:22371060-22371210	GM12864	blood:	n/a	n/a
16	CTCF	chr14:22371080-22371230	GM12865	blood:	n/a	n/a

Variant related genes	Relation type
TRAV8-5	TF binding region

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10129209	0.82[AMR][1000 genomes]
rs10400729	0.82[AMR][1000 genomes]
rs10483261	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10483262	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11157282	0.82[AMR][1000 genomes]
rs11847104	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11847432	0.82[AMR][1000 genomes]
rs11851087	0.82[AMR][1000 genomes]
rs11851092	0.82[AMR][1000 genomes]
rs11851398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147617	0.87[EUR][1000 genomes]
rs12717336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878233	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12878437	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879219	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879245	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879260	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885687	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12890675	0.95[EUR][1000 genomes]
rs12892229	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12892388	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12892396	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12894416	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894540	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895616	0.94[EUR][1000 genomes]
rs13379103	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13379112	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379113	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379346	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17197550	0.92[EUR][1000 genomes]
rs17793011	0.87[EUR][1000 genomes]
rs2075481	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2091831	0.82[AMR][1000 genomes]
rs2204939	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280756	0.82[AMR][1000 genomes]
rs2280758	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2280759	0.95[EUR][1000 genomes]
rs2280760	0.95[EUR][1000 genomes]
rs2280761	0.95[EUR][1000 genomes]
rs2280762	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2293719	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2293721	0.95[EUR][1000 genomes]
rs2293722	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2293723	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2293724	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2293726	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2320065	0.82[AMR][1000 genomes]
rs2320067	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2320068	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28465143	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28668736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874146	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33935089	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34463059	0.85[EUR][1000 genomes]
rs34806796	0.86[EUR][1000 genomes]
rs35331213	0.85[EUR][1000 genomes]
rs35448085	0.87[EUR][1000 genomes]
rs35663455	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35680240	0.96[EUR][1000 genomes]
rs4312228	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4508349	0.95[EUR][1000 genomes]
rs4601949	0.81[AMR][1000 genomes]
rs4633610	0.82[AMR][1000 genomes]
rs4982523	0.96[EUR][1000 genomes]
rs6572148	0.82[AMR][1000 genomes]
rs7140924	0.82[AMR][1000 genomes]
rs721049	0.96[EUR][1000 genomes]
rs8003710	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8003867	0.82[AMR][1000 genomes]
rs8004552	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8004694	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8005101	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8005706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009355	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009724	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8012426	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8015446	0.82[AMR][1000 genomes]
rs9323059	0.82[AMR][1000 genomes]
rs9323060	0.82[AMR][1000 genomes]
rs9323061	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9323062	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9323065	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9323066	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs978838	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12717335	TRAV8-5	cis	Nerve Tibial	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:22362200-22371200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr14:22370200-22371200	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr14:22370400-22371400	Enhancers	Primary T cells from cord blood	blood
4	chr14:22370400-22371400	Enhancers	Primary hematopoietic stem cells	blood
5	chr14:22370400-22371400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr14:22370600-22371400	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr14:22370600-22371400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:22370600-22371400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:22370600-22371400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr14:22370600-22371400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:22370600-22371400	Enhancers	HUVEC	blood vessel
12	chr14:22370600-22371600	Enhancers	Primary T cells fromperipheralblood	blood
13	chr14:22370800-22371400	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr14:22370800-22371400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr14:22370800-22371400	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr14:22371000-22371200	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr14:22371000-22371400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr14:22371000-22371400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:22371000-22371400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:22371000-22371600	Flanking Active TSS	Fetal Thymus	thymus
21	chr14:22371000-22372000	Active TSS	Thymus	Thymus

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