Variant report

Variant	rs2914636
Chromosome Location	chr19:21541342-21541343
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	MXI1	chr19:21541166-21542571	SK-N-SH	brain:	n/a	n/a
2	RFX5	chr19:21541215-21542511	SK-N-SH	brain:	n/a	chr19:21541703-21541712
3	REST	chr19:21541197-21542532	H1-neurons	neurons:	n/a	chr19:21541726-21541735
4	NFYB	chr19:21541252-21542135	GM12878	blood:	n/a	chr19:21541729-21541742 chr19:21541700-21541714 chr19:21541726-21541741 chr19:21541697-21541712 chr19:21541700-21541715 chr19:21541702-21541712 chr19:21541700-21541715 chr19:21541700-21541713

Variant related genes	Relation type
ZNF738	TF binding region

Extended variants
information (count: 111 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1012040	1.00[JPT][hapmap]
rs10406824	1.00[JPT][hapmap]
rs11085443	0.81[EUR][1000 genomes]
rs11085455	1.00[JPT][hapmap]
rs11671832	0.82[ASN][1000 genomes]
rs12151067	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12151068	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12971724	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12975981	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12981869	0.86[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12984238	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1500400	1.00[JPT][hapmap]
rs1500401	1.00[JPT][hapmap];0.94[YRI][hapmap]
rs1520073	1.00[JPT][hapmap]
rs1607664	1.00[JPT][hapmap]
rs1678822	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17618715	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17618778	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs1762580	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17680671	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1813234	1.00[CEU][hapmap];0.93[YRI][hapmap];0.81[EUR][1000 genomes]
rs1827225	0.86[ASN][1000 genomes]
rs1984771	1.00[JPT][hapmap]
rs2133816	1.00[JPT][hapmap]
rs2133820	1.00[JPT][hapmap]
rs2173724	1.00[JPT][hapmap]
rs2246914	1.00[JPT][hapmap]
rs2358984	1.00[CEU][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2562399	1.00[JPT][hapmap]
rs2562448	1.00[JPT][hapmap]
rs2562457	1.00[JPT][hapmap]
rs2562458	1.00[JPT][hapmap]
rs2650779	1.00[JPT][hapmap]
rs2650780	1.00[JPT][hapmap]
rs2650781	1.00[JPT][hapmap]
rs2650783	1.00[JPT][hapmap]
rs2650791	1.00[JPT][hapmap]
rs2650794	1.00[JPT][hapmap];0.94[YRI][hapmap]
rs2650799	1.00[JPT][hapmap]
rs2650845	0.86[CEU][hapmap]
rs2681371	1.00[JPT][hapmap];0.82[YRI][hapmap]
rs2681372	1.00[JPT][hapmap]
rs28839521	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2914637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2928208	0.81[EUR][1000 genomes]
rs2928210	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34560125	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs34875588	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35148123	0.80[ASN][1000 genomes]
rs35578515	0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35860067	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4341872	0.87[CEU][hapmap]
rs483383	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488125	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs501647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs504280	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs509540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs514390	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs531283	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs549882	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs552039	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565406	0.83[EUR][1000 genomes]
rs566230	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57055133	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58121117	1.00[ASN][1000 genomes]
rs59617671	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608002	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs617186	0.87[EUR][1000 genomes]
rs62107470	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62107538	1.00[ASN][1000 genomes]
rs62109224	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62110379	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs629548	0.90[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs635730	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6511228	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs669046	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs670813	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67723811	0.80[ASN][1000 genomes]
rs685844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7245848	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7246684	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7248700	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7249636	1.00[CEU][hapmap]
rs7252873	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7254436	1.00[CHB][hapmap]
rs7254762	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs7258086	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs73025767	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8099863	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8100318	1.00[JPT][hapmap]
rs8102328	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs8102854	1.00[JPT][hapmap]
rs8103411	0.85[ASN][1000 genomes]
rs8103417	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8105404	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8105629	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs8107999	0.82[CHB][hapmap]
rs8110470	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8111189	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113558	0.87[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv911416	chr19:21388995-21548211	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv911417	chr19:21388995-21564001	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	nsv963023	chr19:21491992-21570395	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs2914636	ZNF493	Cis_1M	lymphoblastoid	RTeQTL
rs2914636	CTD-2561J22.5	cis	Esophagus Muscularis	GTEx
rs2914636	CTD-2561J22.5	cis	Thyroid	GTEx
rs2914636	ZNF738	cis	Thyroid	GTEx
rs2914636	ZNF493	cis	Lymphoblastoid	GTEx
rs2914636	ZNF738	Cis_1M	lymphoblastoid	RTeQTL
rs2914636	ZNF738	cis	Adipose Subcutaneous	GTEx
rs2914636	ZNF493	cis	multi-tissue	Pritchard

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21536200-21541400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:21536200-21541400	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr19:21541000-21541400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr19:21541200-21541400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr19:21541200-21541400	Enhancers	Primary B cells from cord blood	blood
6	chr19:21541200-21541400	Enhancers	Dnd41	blood
7	chr19:21541200-21541400	Enhancers	Osteobl	bone
8	chr19:21541200-21541600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr19:21541200-21541600	Enhancers	Fetal Stomach	stomach
10	chr19:21541200-21543000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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