Variant report

Variant	rs2289036
Chromosome Location	chr18:44595809-44595810
allele	A/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	MAFK	chr18:44595775-44596371	HepG2	liver:	n/a	chr18:44596151-44596166

Variant related genes	Relation type
KATNAL2	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13381713	0.88[ASW][hapmap]
rs16954921	0.88[ASW][hapmap]
rs16954999	0.88[ASW][hapmap]
rs2247021	0.87[CHB][hapmap]
rs2247221	0.87[CHB][hapmap]
rs2289133	0.94[ASW][hapmap]
rs2571020	0.87[CHB][hapmap]
rs2571030	0.87[CHB][hapmap]
rs2571031	0.87[CHB][hapmap]
rs2571032	0.87[CHB][hapmap]
rs2571033	0.87[CHB][hapmap]
rs2571034	0.83[CHB][hapmap]
rs2576035	0.83[CHB][hapmap]
rs2576036	0.87[CHB][hapmap]
rs2576037	0.83[CHB][hapmap]
rs2576038	0.87[CHB][hapmap]
rs2576039	0.87[CHB][hapmap]
rs2668761	0.88[ASW][hapmap]
rs4986203	0.88[ASW][hapmap];0.85[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4986204	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4986227	0.80[EUR][1000 genomes]
rs4986228	0.81[CEU][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs6507719	0.87[CHB][hapmap]
rs7233515	0.83[CHB][hapmap]
rs8097455	0.83[CHB][hapmap]
rs9951617	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9953336	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9962436	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv909610	chr18:44549455-44602249	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv909611	chr18:44560875-44614090	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv909612	chr18:44560875-44681485	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv1057235	chr18:44564162-44595809	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1067278	chr18:44564162-44629283	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 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	chr18:44579800-44630200	Weak transcription	Right Ventricle	heart
2	chr18:44585200-44600000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:44586800-44629600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr18:44587200-44630600	Weak transcription	Brain Anterior Caudate	brain
5	chr18:44587600-44629400	Weak transcription	Liver	Liver
6	chr18:44587800-44603400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr18:44588200-44621600	Weak transcription	Left Ventricle	heart
8	chr18:44591800-44602800	Weak transcription	Brain Angular Gyrus	brain
9	chr18:44594200-44603800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr18:44594400-44601600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr18:44594400-44603200	Weak transcription	Brain Substantia Nigra	brain
12	chr18:44594600-44602800	Weak transcription	Adipose Nuclei	Adipose
13	chr18:44595000-44596000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr18:44595400-44596200	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr18:44595800-44601400	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links