Variant report

Variant	rs4077710
Chromosome Location	chr4:120058066-120058067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11098487	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11098488	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11721566	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12501760	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12501822	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12509109	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12509446	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12513017	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12650057	0.85[EUR][1000 genomes]
rs12650315	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13114076	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13133956	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13135433	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13149133	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4267721	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4277762	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4391012	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4833609	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4834756	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4834757	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6820140	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6820590	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6820870	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6828349	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6828875	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6829055	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6834980	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6836493	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6841483	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6845494	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6856786	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6857405	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6857944	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7655957	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7658890	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7669431	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7681001	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong 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
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	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
8	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
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4077710	FGF2	cis	cerebellum	SCAN
rs4077710	BBS7	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120045200-120059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:120052800-120058800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:120052800-120060000	Weak transcription	Fetal Intestine Large	intestine
4	chr4:120055800-120061800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:120056200-120061200	Enhancers	HSMM	muscle
6	chr4:120056400-120061800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:120056600-120058200	Enhancers	Brain Substantia Nigra	brain
8	chr4:120056600-120058800	Enhancers	Brain Hippocampus Middle	brain
9	chr4:120056800-120059600	Active TSS	Fetal Muscle Trunk	muscle
10	chr4:120056800-120060200	Active TSS	Fetal Heart	heart
11	chr4:120056800-120060600	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr4:120057000-120058200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:120057000-120060200	Active TSS	Aorta	Aorta
14	chr4:120057000-120060800	Active TSS	Left Ventricle	heart
15	chr4:120057000-120063600	Active TSS	Right Ventricle	heart
16	chr4:120057000-120068400	Active TSS	Right Atrium	heart
17	chr4:120057200-120059600	Active TSS	Fetal Muscle Leg	muscle
18	chr4:120057200-120066600	Weak transcription	Pancreas	Pancrea
19	chr4:120057400-120060200	Weak transcription	HMEC	breast
20	chr4:120057600-120058400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:120057600-120058600	Weak transcription	Osteobl	bone
22	chr4:120057600-120058800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:120057600-120059400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:120057600-120059400	Weak transcription	NHLF	lung
25	chr4:120057600-120060200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:120057600-120060200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:120057600-120061000	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr4:120057600-120061600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:120057800-120058800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:120057800-120059200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:120057800-120060200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:120057800-120060200	Weak transcription	HUVEC	blood vessel
33	chr4:120057800-120060400	Weak transcription	Fetal Intestine Small	intestine
34	chr4:120057800-120060400	Weak transcription	HepG2	liver
35	chr4:120057800-120060800	Weak transcription	A549	lung
36	chr4:120057800-120061000	Weak transcription	Psoas Muscle	Psoas
37	chr4:120058000-120059200	Weak transcription	NHDF-Ad	bronchial
38	chr4:120058000-120060000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:120058000-120061400	Enhancers	HSMMtube	muscle

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