Variant report

Variant	rs4930393
Chromosome Location	chr11:66679429-66679430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:66679422-66679484	GM20000	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66677241..66680010-chr11:66694798..66696500,2	MCF-7	breast:
2	chr11:66661363..66663276-chr11:66678554..66680606,2	MCF-7	breast:
3	chr11:66679281..66682230-chr11:66683799..66685977,2	MCF-7	breast:
4	chr11:66678730..66681297-chr11:66687110..66688715,2	MCF-7	breast:

Variant related genes	Relation type
PC	TF binding region
ENSG00000239099	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1077256	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10791894	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11227624	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1530891	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34482178	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4483596	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4930394	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6591226	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7103335	0.82[ASN][1000 genomes]
rs7110302	0.98[ASN][1000 genomes]
rs746018	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs746019	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7935749	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4930393	CTD-3074O7.2	cis	Muscle Skeletal	GTEx
rs4930393	ACTN3	cis	Muscle Skeletal	GTEx

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66672200-66684000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr11:66672600-66680000	Weak transcription	HUVEC	blood vessel
3	chr11:66672600-66683000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:66674000-66687000	Weak transcription	HSMMtube	muscle
5	chr11:66674200-66679600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:66674200-66680000	Weak transcription	Brain Germinal Matrix	brain
7	chr11:66674400-66679600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:66674400-66679600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:66674400-66679600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr11:66674400-66679800	Weak transcription	Brain Anterior Caudate	brain
11	chr11:66674400-66689600	Weak transcription	NHLF	lung
12	chr11:66674600-66679600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:66674600-66679800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:66674600-66680000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:66674600-66680400	Weak transcription	Right Ventricle	heart
16	chr11:66674600-66684800	Weak transcription	Fetal Stomach	stomach
17	chr11:66674600-66696400	Weak transcription	NHEK	skin
18	chr11:66674800-66679800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:66674800-66680200	Weak transcription	Fetal Muscle Leg	muscle
20	chr11:66675000-66696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:66675400-66679800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:66675400-66680000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:66675400-66681400	Weak transcription	Fetal Intestine Large	intestine
24	chr11:66675600-66682000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:66675600-66683000	Weak transcription	A549	lung
26	chr11:66675600-66687000	Weak transcription	Osteobl	bone
27	chr11:66675600-66699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:66675800-66679600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:66675800-66680000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:66675800-66680400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr11:66675800-66682200	Weak transcription	Fetal Intestine Small	intestine
32	chr11:66676000-66679800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:66676000-66679800	Weak transcription	Brain Angular Gyrus	brain
34	chr11:66676000-66680000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:66676000-66680000	Weak transcription	Stomach Mucosa	stomach
36	chr11:66676200-66682000	Weak transcription	K562	blood
37	chr11:66676200-66682400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr11:66676200-66688600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:66676400-66682600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:66676800-66682400	Weak transcription	Gastric	stomach
41	chr11:66676800-66683800	Weak transcription	Fetal Brain Female	brain
42	chr11:66676800-66696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:66677000-66683000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:66677200-66682400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:66677200-66683400	Weak transcription	Liver	Liver
46	chr11:66677200-66692000	Weak transcription	Pancreas	Pancrea
47	chr11:66678000-66680000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:66678000-66682800	Enhancers	Brain Hippocampus Middle	brain
49	chr11:66678000-66688600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:66678200-66679600	Weak transcription	Brain Cingulate Gyrus	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links