Variant report

Variant	rs2968071
Chromosome Location	chr19:21579360-21579361
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	RFX5	chr19:21579229-21580347	SK-N-SH	brain:	n/a	chr19:21580109-21580123 chr19:21579849-21579858

Variant related genes	Relation type
ZNF493	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10410362	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10412054	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11878543	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11879647	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11880701	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11880751	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11881331	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11881379	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11882304	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1762561	1.00[AMR][1000 genomes]
rs1762562	1.00[AMR][1000 genomes]
rs1762569	1.00[AMR][1000 genomes]
rs1781849	1.00[AMR][1000 genomes]
rs1781854	1.00[AMR][1000 genomes]
rs1781859	1.00[AMR][1000 genomes]
rs1846713	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1909772	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1963057	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2011379	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2088759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2173726	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2359147	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434998	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2454922	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2537693	1.00[AMR][1000 genomes]
rs2537695	1.00[AMR][1000 genomes]
rs2562412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2562434	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2562460	0.84[EUR][1000 genomes]
rs2650772	0.84[EUR][1000 genomes]
rs2650811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2650838	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2650839	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2801860	1.00[AMR][1000 genomes]
rs28857324	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2914643	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2914644	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2928219	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2928220	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2968029	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2968031	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35464445	1.00[ASN][1000 genomes]
rs57626552	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57847044	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58638125	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59087535	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59268487	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61062763	1.00[ASN][1000 genomes]
rs61334868	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7249229	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73539807	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73543709	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73545768	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73545790	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73547713	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73547779	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73549716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8112786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3518033	chr19:21278465-21747567	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3518034	chr19:21278465-21747567	ZNF genes & repeats Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3414204	chr19:21301761-21839451	ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv3325271	chr19:21445407-21792817	Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv911420	chr19:21454672-21613397	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2751783	chr19:21465822-21726337	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv3363678	chr19:21483148-21756908	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv578952	chr19:21535707-21868584	Genic enhancers Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1793996	chr19:21544242-21609607	Active TSS Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv1801985	chr19:21544242-21609607	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv1844586	chr19:21544242-21609607	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv1834499	chr19:21557835-21609607	Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv1834993	chr19:21557835-21609607	Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21567400-21579800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:21578800-21581200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:21579000-21579400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr19:21579000-21579400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr19:21579000-21579600	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr19:21579000-21579600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr19:21579000-21579600	Enhancers	HepG2	liver
8	chr19:21579000-21579800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:21579000-21581600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr19:21579200-21579600	Enhancers	Primary T cells fromperipheralblood	blood
11	chr19:21579200-21579600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:21579200-21579800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr19:21579200-21579800	Flanking Active TSS	Dnd41	blood
14	chr19:21579200-21580800	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr19:21579200-21580800	Active TSS	Stomach Smooth Muscle	stomach

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