Variant report

Variant	rs4435717
Chromosome Location	chr4:47933186-47933187
allele	A/G
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	chr4:47931421..47933962-chr4:48023489..48026018,2	MCF-7	breast:
3	chr4:47913034..47916657-chr4:47929562..47933478,3	K562	blood:

Variant related genes	Relation type
ENSG00000163293	Chromatin interaction
ENSG00000170448	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10008818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1012844	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10517201	0.80[ASN][1000 genomes]
rs10938502	0.80[ASN][1000 genomes]
rs11933101	0.80[ASN][1000 genomes]
rs11934632	0.80[ASN][1000 genomes]
rs11937912	0.80[ASN][1000 genomes]
rs11940319	0.86[ASN][1000 genomes]
rs11940441	0.80[ASN][1000 genomes]
rs12501949	0.86[ASN][1000 genomes]
rs12505333	0.80[ASN][1000 genomes]
rs12506863	0.80[ASN][1000 genomes]
rs12509520	0.86[ASN][1000 genomes]
rs12510304	0.86[ASN][1000 genomes]
rs12512884	0.86[ASN][1000 genomes]
rs12512988	0.86[ASN][1000 genomes]
rs12513157	0.80[ASN][1000 genomes]
rs1371729	0.84[EUR][1000 genomes]
rs1440221	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
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	0.83[EUR][1000 genomes]
rs1822029	0.80[ASN][1000 genomes]
rs1822030	0.80[EUR][1000 genomes]
rs1965804	0.86[ASN][1000 genomes]
rs1984713	0.83[EUR][1000 genomes]
rs1992326	0.80[ASN][1000 genomes]
rs2165263	0.80[ASN][1000 genomes]
rs2352470	0.83[EUR][1000 genomes]
rs28395298	0.81[EUR][1000 genomes]
rs28460483	0.84[EUR][1000 genomes]
rs28636596	0.84[EUR][1000 genomes]
rs2882949	0.86[ASN][1000 genomes]
rs34449323	0.80[ASN][1000 genomes]
rs4031458	0.86[ASN][1000 genomes]
rs4405986	0.81[ASN][1000 genomes]
rs4475122	0.80[ASN][1000 genomes]
rs4518214	0.80[ASN][1000 genomes]
rs4695278	0.80[ASN][1000 genomes]
rs4695280	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4695317	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	0.80[ASN][1000 genomes]
rs6844066	0.80[ASN][1000 genomes]
rs6845064	0.80[ASN][1000 genomes]
rs6848667	0.86[ASN][1000 genomes]
rs6858440	0.83[EUR][1000 genomes]
rs7654965	0.80[ASN][1000 genomes]
rs7690499	0.80[ASN][1000 genomes]
rs7699225	0.80[ASN][1000 genomes]
rs9995122	0.84[EUR][1000 genomes]

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
rs4435717	NFXL1	cis	Whole Blood	GTEx
rs4435717	CORIN	cis	Whole Blood	GTEx
rs4435717	RP11-121C2.2	cis	Whole Blood	GTEx
rs4435717	CNGA1	cis	Muscle Skeletal	GTEx

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47929200-47936200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:47932600-47934000	Enhancers	Fetal Intestine Small	intestine
3	chr4:47932800-47933200	Enhancers	Pancreas	Pancrea
4	chr4:47932800-47933400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:47932800-47933600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:47932800-47933600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:47932800-47933600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:47932800-47933600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:47932800-47933600	Enhancers	Fetal Intestine Large	intestine
10	chr4:47932800-47933600	Enhancers	Fetal Lung	lung
11	chr4:47932800-47933600	Enhancers	HMEC	breast
12	chr4:47932800-47933600	Enhancers	HUVEC	blood vessel
13	chr4:47932800-47933600	Enhancers	NHEK	skin
14	chr4:47932800-47933600	Enhancers	NHLF	lung
15	chr4:47932800-47933800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:47932800-47933800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:47932800-47933800	Enhancers	HSMM	muscle
18	chr4:47932800-47933800	Enhancers	NH-A	brain
19	chr4:47932800-47934000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:47932800-47934000	Enhancers	Liver	Liver
21	chr4:47932800-47934000	Enhancers	NHDF-Ad	bronchial
22	chr4:47932800-47934000	Enhancers	Osteobl	bone
23	chr4:47933000-47933200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr4:47933000-47933600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:47933000-47933600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:47933000-47933600	Enhancers	Stomach Mucosa	stomach
27	chr4:47933000-47933600	Enhancers	HSMMtube	muscle
28	chr4:47933000-47933800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:47933000-47933800	Enhancers	HepG2	liver
30	chr4:47933000-47934000	Enhancers	Brain Germinal Matrix	brain

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