Variant report

Variant	rs786020
Chromosome Location	chr18:14970118-14970119
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	NFIC	chr18:14970017-14970452	SK-N-SH	brain:	n/a	chr18:14970211-14970227
2	GATA3	chr18:14969975-14970445	SK-N-SH	brain:	n/a	chr18:14970307-14970316
3	PBX3	chr18:14969998-14970441	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr18:14969910-14970495	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr18:14970074-14970524	SK-N-SH	brain:	n/a	n/a
6	EP300	chr18:14970016-14970410	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr18:14966664-14972587	U87	brain:	n/a	n/a
8	MAX	chr18:14969998-14970381	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr18:14968429-14972592	U87	brain:	n/a	n/a
10	REST	chr18:14970085-14970392	SK-N-SH	brain:	n/a	n/a
11	JUND	chr18:14969397-14970501	SK-N-SH	brain:	n/a	chr18:14970364-14970374 chr18:14970365-14970373 chr18:14970309-14970317 chr18:14970310-14970321 chr18:14970307-14970318
12	POLR2A	chr18:14968430-14972622	U87	brain:	n/a	n/a
13	GATA3	chr18:14969969-14970403	SK-N-SH	brain:	n/a	chr18:14970307-14970316
14	FOS	chr18:14970099-14970546	MCF10A-Er-Src	breast:	n/a	chr18:14970364-14970374 chr18:14970365-14970373 chr18:14970309-14970317 chr18:14970310-14970321 chr18:14970307-14970318
15	NFIC	chr18:14970030-14970376	SK-N-SH	brain:	n/a	chr18:14970211-14970227

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEC-3	chr18:14969877-14970467	ENSG00000264301.1

Variant related genes	Relation type
ENSG00000264301	TF binding region
ENSG00000266554	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11665121	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16956954	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2005092	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2077353	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2313810	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2460072	1.00[CEU][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2460077	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2487170	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28548720	0.86[AMR][1000 genomes]
rs28562095	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2860496	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2872415	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28835715	0.87[EUR][1000 genomes]
rs2945660	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3813066	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4624279	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4890720	0.86[AMR][1000 genomes]
rs56039970	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56233211	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56380668	0.90[AMR][1000 genomes]
rs62087312	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62087314	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62087315	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs699307	0.85[CHB][hapmap];0.89[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs786019	1.00[CEU][hapmap];0.85[CHB][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs786023	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs786024	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs786047	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8098277	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8099426	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9954543	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9955079	0.84[EUR][1000 genomes]
rs9955645	1.00[CEU][hapmap];0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916419	chr18:14418522-15165372	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
2	esv2751771	chr18:14704694-15106727	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	nsv909434	chr18:14841828-15149366	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer 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
4	nsv576542	chr18:14913292-14978677	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv33381	chr18:14929347-15052868	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv961035	chr18:14935356-14984974	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv960221	chr18:14948300-14977956	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv576543	chr18:14949001-15178340	Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv2761993	chr18:14956916-15402408	Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14963200-14974000	Weak transcription	Spleen	Spleen
2	chr18:14968600-14970400	Flanking Active TSS	Osteobl	bone
3	chr18:14968600-14971000	Enhancers	Muscle Satellite Cultured Cells	--
4	chr18:14969200-14972600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:14969400-14972600	Enhancers	NHDF-Ad	bronchial
6	chr18:14969600-14971000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr18:14969800-14970400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr18:14970000-14971200	Enhancers	HUVEC	blood vessel
9	chr18:14970000-14972800	Enhancers	HSMM	muscle

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