Variant report

Variant	rs356196
Chromosome Location	chr4:90682803-90682804
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10008964	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1372518	0.81[AFR][1000 genomes]
rs1372519	0.81[AFR][1000 genomes]
rs1372520	0.88[AFR][1000 genomes]
rs1442144	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1442148	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1471484	0.87[AFR][1000 genomes]
rs168550	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1811442	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1811443	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1837891	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs184810	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2197120	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2572318	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2583962	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2583964	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2583968	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2583972	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2583978	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2619341	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2619347	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2619349	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2619355	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2619356	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2619368	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2737002	0.81[AFR][1000 genomes]
rs2737010	0.83[EUR][1000 genomes]
rs2737021	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2737025	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2737028	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2737030	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2737032	0.90[ASN][1000 genomes]
rs3113355	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs356162	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs356164	0.90[ASN][1000 genomes]
rs356188	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs356191	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs356197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs356198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748849	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs990085	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830400	chr4:90085456-90922432	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv879536	chr4:90678541-90775212	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:90649400-90696400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:90663400-90691400	Weak transcription	Dnd41	blood
3	chr4:90675000-90683800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:90675000-90686200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:90675000-90687000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:90675200-90686000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:90675200-90687000	Weak transcription	Fetal Kidney	kidney
8	chr4:90675400-90687000	Weak transcription	Fetal Brain Male	brain
9	chr4:90675400-90696200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:90676000-90686800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:90676200-90709200	Weak transcription	HUVEC	blood vessel
12	chr4:90680800-90686400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr4:90681600-90683600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:90682000-90683000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:90682000-90683200	Enhancers	Brain Anterior Caudate	brain
16	chr4:90682000-90683200	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:90682400-90683000	Weak transcription	Brain Substantia Nigra	brain

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