Variant report

Variant	rs8009355
Chromosome Location	chr14:22368902-22368903
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	POLR2A	chr14:22368861-22369009	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:22319959..22320920-chr14:22368475..22369126,2	MCF-7	breast:

Variant related genes	Relation type
TRAV8-5	TF binding region
ENSG00000211787	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10129209	0.84[AMR][1000 genomes]
rs10400729	0.84[AMR][1000 genomes]
rs10483261	0.82[CEU][hapmap];0.88[MEX][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10483262	0.82[CEU][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11157282	0.84[AMR][1000 genomes]
rs11847104	0.81[CEU][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11847432	0.84[AMR][1000 genomes]
rs11851087	0.84[AMR][1000 genomes]
rs11851092	0.82[CEU][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs11851398	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147617	0.87[EUR][1000 genomes]
rs12717335	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12717336	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878233	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12878437	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879219	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879245	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879260	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885687	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12890675	0.95[EUR][1000 genomes]
rs12892229	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12892388	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12892396	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12894416	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895616	0.94[EUR][1000 genomes]
rs13379103	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13379112	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379113	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379346	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569288	0.81[AMR][1000 genomes]
rs17197550	1.00[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs17793011	0.87[EUR][1000 genomes]
rs2075481	0.82[CEU][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2091831	0.82[CEU][hapmap];0.84[AMR][1000 genomes]
rs2204939	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2222918	0.82[CEU][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes]
rs2280756	0.84[AMR][1000 genomes]
rs2280757	0.85[CEU][hapmap]
rs2280758	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2280759	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2280760	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2280761	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2280762	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2293718	0.82[CEU][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes]
rs2293719	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2293721	0.95[EUR][1000 genomes]
rs2293722	0.81[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2293723	0.81[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2293724	0.81[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2293726	0.81[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2320065	0.82[CEU][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs2320067	0.88[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2320068	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28465143	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28668736	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2874146	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33935089	0.85[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	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35680240	0.96[EUR][1000 genomes]
rs4312228	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4508349	0.95[EUR][1000 genomes]
rs4601949	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs4633610	0.84[AMR][1000 genomes]
rs4982523	0.96[EUR][1000 genomes]
rs6572148	0.84[AMR][1000 genomes]
rs7140924	0.84[AMR][1000 genomes]
rs721049	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs8003710	0.81[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8003867	0.84[AMR][1000 genomes]
rs8004552	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8004694	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8005101	0.81[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8005706	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8009724	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8012426	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs8015446	0.82[CEU][hapmap];0.88[MEX][hapmap];0.84[AMR][1000 genomes]
rs9323059	0.84[AMR][1000 genomes]
rs9323060	0.84[AMR][1000 genomes]
rs9323061	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9323062	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9323065	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9323066	0.82[CEU][hapmap];0.88[MEX][hapmap];0.81[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs978838	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs994826	0.82[CEU][hapmap];0.81[AMR][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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs8009355	RNASE13	cis	cerebellum	SCAN
rs8009355	TRAV8-5	cis	Nerve Tibial	GTEx
rs8009355	NFATC4	cis	cerebellum	SCAN
rs8009355	SLC7A8	cis	parietal	SCAN
rs8009355	CEBPE	cis	cerebellum	SCAN
rs8009355	OR4K14	cis	parietal	SCAN
rs8009355	ABHD4	cis	cerebellum	SCAN
rs8009355	GMPR2	cis	parietal	SCAN

Chromatin state (count:1 , 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

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