Variant report

Variant	rs62328407
Chromosome Location	chr4:120221425-120221426
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:120132610..120134570-chr4:120221091..120222996,2	MCF-7	breast:
2	chr4:120218971..120221940-chr4:120223972..120225739,2	MCF-7	breast:
3	chr4:120132319..120136069-chr4:120219720..120222326,6	MCF-7	breast:
4	chr4:120132453..120136158-chr4:120220202..120223113,6	K562	blood:
5	chr4:120130951..120136158-chr4:120218006..120223072,8	K562	blood:
6	chr4:120221299..120222224-chr8:135724884..135725814,2	MCF-7	breast:
7	chr4:120220396..120223311-chr4:120987092..120990068,3	K562	blood:
8	chr4:120219760..120221715-chr4:120374891..120376939,2	MCF-7	breast:
9	chr4:120210891..120213027-chr4:120219123..120221721,2	K562	blood:
10	chr20:55840161..55841677-chr4:120221342..120223626,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000101144	Chromatin interaction
ENSG00000164109	Chromatin interaction
ENSG00000066827	Chromatin interaction
ENSG00000164096	Chromatin interaction
ENSG00000250938	Chromatin interaction
ENSG00000245958	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11935130	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11946739	0.82[ASN][1000 genomes]
rs12645079	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12645965	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12646466	0.82[ASN][1000 genomes]
rs12647635	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12649811	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12650267	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17049968	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17642800	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1858285	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28421394	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28848291	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28864107	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35372126	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3905917	0.85[ASN][1000 genomes]
rs4833614	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4834768	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4834769	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4834773	0.85[ASN][1000 genomes]
rs55827028	0.80[ASN][1000 genomes]
rs56072232	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56344202	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62328369	0.83[AMR][1000 genomes]
rs62328371	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62328372	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62328373	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62328374	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62328376	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62328377	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62328379	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62328398	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62328426	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6840053	0.82[ASN][1000 genomes]
rs7681328	0.84[ASN][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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs62328407	FABP2	cis	Heart Left Ventricle	GTEx
rs62328407	FABP2	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120219200-120221600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr4:120219200-120222200	Active TSS	Aorta	Aorta
3	chr4:120219200-120222200	Active TSS	Right Ventricle	heart
4	chr4:120219200-120222400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:120219400-120222000	Active TSS	HMEC	breast
6	chr4:120219400-120222000	Active TSS	HSMMtube	muscle
7	chr4:120219400-120222200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:120219400-120222200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr4:120219400-120222400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:120219400-120222400	Active TSS	Fetal Intestine Large	intestine
11	chr4:120219400-120222400	Active TSS	NHLF	lung
12	chr4:120219600-120222400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr4:120219800-120221800	Transcr. at gene 5' and 3'	Dnd41	blood
14	chr4:120219800-120222000	Active TSS	Muscle Satellite Cultured Cells	--
15	chr4:120219800-120222400	Active TSS	HSMM	muscle
16	chr4:120220000-120221800	Active TSS	Placenta Amnion	Placenta Amnion
17	chr4:120220000-120222000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:120220000-120222000	Active TSS	Left Ventricle	heart
19	chr4:120220000-120222000	Active TSS	NHDF-Ad	bronchial
20	chr4:120220000-120222200	Active TSS	Fetal Muscle Trunk	muscle
21	chr4:120220000-120222200	Active TSS	Ovary	ovary
22	chr4:120220000-120222400	Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr4:120220000-120222400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:120220000-120222400	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:120220000-120222400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:120220000-120222400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr4:120220000-120222400	Active TSS	Fetal Kidney	kidney
28	chr4:120220000-120222400	Active TSS	A549	lung
29	chr4:120220000-120222400	Active TSS	Hela-S3	cervix
30	chr4:120220000-120223200	Active TSS	GM12878-XiMat	blood
31	chr4:120220200-120221600	Bivalent/Poised TSS	HepG2	liver
32	chr4:120220200-120221800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr4:120220200-120222200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:120220200-120222200	Active TSS	Esophagus	oesophagus
35	chr4:120220200-120222200	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr4:120220200-120222400	Active TSS	H9 Cell Line	embryonic stem cell
37	chr4:120220400-120222000	Active TSS	Gastric	stomach
38	chr4:120220400-120222000	Active TSS	Sigmoid Colon	Sigmoid Colon
39	chr4:120220400-120222200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:120220400-120222200	Active TSS	Lung	lung
41	chr4:120220400-120222400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr4:120220400-120222400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:120220400-120222400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:120220400-120222400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:120220400-120222400	Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr4:120220400-120222400	Active TSS	Fetal Intestine Small	intestine
47	chr4:120220400-120222400	Active TSS	Stomach Smooth Muscle	stomach
48	chr4:120220600-120221600	ZNF genes & repeats	Fetal Heart	heart
49	chr4:120220600-120222000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:120220600-120222000	Active TSS	Liver	Liver

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