Variant report

Variant	rs6593509
Chromosome Location	chr10:43705285-43705286
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43698632..43700457-chr10:43704012..43705797,2	K562	blood:
2	chr10:43704701..43705317-chr10:43751108..43751738,2	MCF-7	breast:
3	chr10:43698957..43702295-chr10:43702554..43706038,5	K562	blood:

Variant related genes	Relation type
ENSG00000198915	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10899775	0.83[YRI][hapmap];0.83[AFR][1000 genomes]
rs11238442	0.85[AFR][1000 genomes]
rs11238443	0.82[YRI][hapmap]
rs11238457	0.83[AFR][1000 genomes]
rs11238462	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12243788	0.98[AFR][1000 genomes]
rs12244691	0.98[AFR][1000 genomes]
rs12254612	0.89[YRI][hapmap];0.87[AFR][1000 genomes]
rs12256246	0.83[AFR][1000 genomes]
rs12257299	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12263074	0.82[AFR][1000 genomes]
rs12266774	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs12268127	0.85[YRI][hapmap];0.87[AFR][1000 genomes]
rs13377137	0.83[AFR][1000 genomes]
rs7073629	0.90[YRI][hapmap];0.87[AFR][1000 genomes]
rs7358114	0.91[YRI][hapmap];0.84[AFR][1000 genomes]
rs745689	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7894347	0.85[AFR][1000 genomes]
rs7895798	0.83[AFR][1000 genomes]
rs7913867	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs7914773	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv895082	chr10:43530071-43755506	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv895083	chr10:43549708-43765485	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv916378	chr10:43622151-43868356	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1043661	chr10:43626619-43890162	Bivalent Enhancer Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv540574	chr10:43626619-43890162	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv1831010	chr10:43674916-43759185	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv895084	chr10:43688505-43765485	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv466881	chr10:43695049-43799588	Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv550696	chr10:43695049-43799588	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv895085	chr10:43695049-43804617	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43698000-43722800	Weak transcription	Gastric	stomach
2	chr10:43698200-43706600	Weak transcription	Brain Hippocampus Middle	brain
3	chr10:43698200-43707400	Weak transcription	Brain Substantia Nigra	brain
4	chr10:43698400-43706200	Weak transcription	HMEC	breast
5	chr10:43698400-43710800	Weak transcription	Esophagus	oesophagus
6	chr10:43699400-43716800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr10:43699400-43724600	Weak transcription	Right Atrium	heart
8	chr10:43700800-43706400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr10:43701000-43705800	Weak transcription	Fetal Brain Female	brain
10	chr10:43701000-43706000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:43701000-43706400	Weak transcription	Brain Anterior Caudate	brain
12	chr10:43701200-43706200	Weak transcription	Brain Angular Gyrus	brain
13	chr10:43701200-43707200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr10:43701400-43706200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr10:43704600-43706200	Weak transcription	Spleen	Spleen
16	chr10:43704800-43705400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr10:43704800-43706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:43705000-43705400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:43705200-43705400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr10:43705200-43706000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links