Variant report

Variant	rs10008818
Chromosome Location	chr4:47930450-47930451
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:47915649..47917988-chr4:47930284..47933272,2	MCF-7	breast:
2	chr4:47914012..47917930-chr4:47928517..47931716,3	K562	blood:
3	chr4:47913034..47916657-chr4:47929562..47933478,3	K562	blood:

Variant related genes	Relation type
ENSG00000170448	Chromatin interaction
ENSG00000163293	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10049713	0.85[CEU][hapmap]
rs1012844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10517201	0.80[ASN][1000 genomes]
rs1062858	0.84[CEU][hapmap]
rs10938502	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs10938504	0.87[CEU][hapmap]
rs10938506	0.85[CEU][hapmap]
rs10938509	1.00[CHB][hapmap]
rs11933101	0.80[ASN][1000 genomes]
rs11934632	0.80[ASN][1000 genomes]
rs11937912	0.80[ASN][1000 genomes]
rs11940319	0.86[CHB][hapmap];0.86[ASN][1000 genomes]
rs11940441	0.80[ASN][1000 genomes]
rs12501949	0.86[ASN][1000 genomes]
rs12504018	0.81[CEU][hapmap]
rs12505333	0.80[ASN][1000 genomes]
rs12506632	0.85[CEU][hapmap]
rs12506863	0.80[ASN][1000 genomes]
rs12507439	0.85[CEU][hapmap]
rs12509520	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs12510304	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs12512884	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs12512988	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs12513157	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs12651301	0.84[CEU][hapmap]
rs1371729	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs1440221	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1440224	0.90[CHB][hapmap]
rs1440228	0.85[CEU][hapmap]
rs1465885	0.86[ASN][1000 genomes]
rs16860663	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17463534	0.80[ASN][1000 genomes]
rs17573709	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs17573717	1.00[CHB][hapmap]
rs1822029	0.80[ASN][1000 genomes]
rs1822030	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs1866689	0.84[CEU][hapmap]
rs1965804	0.86[ASN][1000 genomes]
rs1984713	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs1992326	0.80[ASN][1000 genomes]
rs2033893	0.85[CEU][hapmap]
rs2165263	0.80[ASN][1000 genomes]
rs2352470	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs28395298	0.81[EUR][1000 genomes]
rs28460483	0.84[EUR][1000 genomes]
rs28636596	0.84[EUR][1000 genomes]
rs2882949	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs34449323	0.80[ASN][1000 genomes]
rs4031458	0.86[ASN][1000 genomes]
rs4405986	0.81[ASN][1000 genomes]
rs4435717	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4475122	0.80[ASN][1000 genomes]
rs4518214	0.80[ASN][1000 genomes]
rs4565052	0.85[CEU][hapmap]
rs4695278	0.80[ASN][1000 genomes]
rs4695280	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4695317	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs55844485	0.86[ASN][1000 genomes]
rs56084299	0.80[ASN][1000 genomes]
rs56686194	0.80[ASN][1000 genomes]
rs56971681	0.86[ASN][1000 genomes]
rs57159058	0.80[ASN][1000 genomes]
rs60535228	0.86[ASN][1000 genomes]
rs62298261	0.80[ASN][1000 genomes]
rs62298266	0.84[ASN][1000 genomes]
rs62298267	0.84[ASN][1000 genomes]
rs62298302	0.86[ASN][1000 genomes]
rs62298303	0.86[ASN][1000 genomes]
rs62299256	0.80[ASN][1000 genomes]
rs62299257	0.80[ASN][1000 genomes]
rs62299258	0.80[ASN][1000 genomes]
rs62301163	0.80[ASN][1000 genomes]
rs6447591	0.80[ASN][1000 genomes]
rs66901846	0.86[ASN][1000 genomes]
rs6819172	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs6823184	0.85[CEU][hapmap]
rs6823698	0.84[CEU][hapmap]
rs6844066	0.80[ASN][1000 genomes]
rs6845064	0.80[ASN][1000 genomes]
rs6848667	0.86[ASN][1000 genomes]
rs6858440	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs7654965	0.80[ASN][1000 genomes]
rs7690499	0.80[ASN][1000 genomes]
rs7699225	0.80[ASN][1000 genomes]
rs8180146	0.84[CEU][hapmap]
rs978094	0.85[CEU][hapmap]
rs9995122	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs9997555	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013947	chr4:47915527-48052824	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv537082	chr4:47915527-48052824	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10008818	CORIN	cis	Whole Blood	GTEx
rs10008818	CNGA1	cis	Muscle Skeletal	GTEx
rs10008818	NFXL1	cis	Whole Blood	GTEx
rs10008818	RP11-121C2.2	cis	Whole Blood	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47929000-47932800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:47929000-47932800	Weak transcription	NH-A	brain
3	chr4:47929200-47931800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr4:47929200-47932800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:47929200-47932800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:47929200-47932800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:47929200-47932800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:47929200-47932800	Weak transcription	Liver	Liver
9	chr4:47929200-47932800	Weak transcription	Fetal Lung	lung
10	chr4:47929200-47932800	Weak transcription	Pancreas	Pancrea
11	chr4:47929200-47932800	Weak transcription	NHEK	skin
12	chr4:47929200-47933000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:47929200-47933000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:47929200-47933000	Weak transcription	Brain Germinal Matrix	brain
15	chr4:47929200-47933000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:47929200-47933000	Weak transcription	Stomach Mucosa	stomach
17	chr4:47929200-47933000	Weak transcription	HepG2	liver
18	chr4:47929200-47936200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:47929400-47931600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr4:47929400-47932600	Weak transcription	Fetal Intestine Small	intestine
21	chr4:47929400-47932800	Weak transcription	Fetal Intestine Large	intestine

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