Variant report

Variant	rs4570487
Chromosome Location	chr10:5639907-5639908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5488551..5493324-chr10:5634966..5640778,7	K562	blood:
2	chr10:5487394..5491238-chr10:5636789..5640542,6	MCF-7	breast:
3	chr10:5635633..5639309-chr10:5639883..5642893,4	K562	blood:
4	chr10:5636705..5640848-chr10:5659114..5662313,5	MCF-7	breast:
5	chr10:5639024..5641662-chr10:5646030..5647714,3	K562	blood:
6	chr10:5536942..5538873-chr10:5638916..5641121,2	MCF-7	breast:
7	chr10:5638529..5640411-chr10:5647235..5649668,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228951	Chromatin interaction
ENSG00000242147	Chromatin interaction
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1106413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12242788	0.83[TSI][hapmap]
rs2380195	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2380198	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28495843	0.84[CEU][hapmap];0.97[TSI][hapmap];0.84[EUR][1000 genomes]
rs4075309	0.83[TSI][hapmap]
rs7392864	0.84[CEU][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs7477661	0.84[EUR][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	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1036798	chr10:5637870-5652754	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1040932	chr10:5637870-5665774	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv466718	chr10:5639907-5657527	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv549890	chr10:5639907-5657527	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4570487	C10orf18	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5633800-5641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:5634800-5651200	Weak transcription	Pancreas	Pancrea
3	chr10:5637000-5640800	Weak transcription	Aorta	Aorta
4	chr10:5637400-5640000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr10:5637600-5641600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr10:5638000-5642200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr10:5638200-5640000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:5638200-5640200	Enhancers	HMEC	breast
9	chr10:5638200-5643400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr10:5638400-5640200	Enhancers	Hela-S3	cervix
11	chr10:5638600-5640000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:5638600-5641800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr10:5638600-5641800	Weak transcription	Ovary	ovary
14	chr10:5638600-5643200	Weak transcription	Adipose Nuclei	Adipose
15	chr10:5638600-5643400	Weak transcription	Lung	lung
16	chr10:5638600-5643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr10:5638800-5641800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr10:5638800-5643600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:5639000-5642000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:5639000-5643400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr10:5639200-5640000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr10:5639200-5643600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr10:5639200-5643600	Weak transcription	Right Ventricle	heart
24	chr10:5639600-5640000	Enhancers	NHEK	skin
25	chr10:5639600-5642200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:5639600-5643000	Weak transcription	Esophagus	oesophagus
27	chr10:5639800-5641600	Weak transcription	Fetal Heart	heart
28	chr10:5639800-5650200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr10:5639800-5651600	Weak transcription	Placenta Amnion	Placenta Amnion

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