Variant report

Variant	rs11931316
Chromosome Location	chr4:95596999-95597000
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs6813105	1.00[AMR][1000 genomes]
rs6835329	1.00[AMR][1000 genomes]
rs6835988	1.00[AMR][1000 genomes]
rs6845278	1.00[AMR][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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95540200-95597800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr4:95570800-95599800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:95576200-95598000	Weak transcription	Aorta	Aorta
4	chr4:95576200-95598200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:95580000-95597800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr4:95582000-95599800	Weak transcription	NHEK	skin
7	chr4:95582400-95598200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:95582600-95600000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:95582800-95598000	Weak transcription	Fetal Heart	heart
10	chr4:95585200-95598200	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:95586000-95598000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:95587400-95598000	Weak transcription	HSMMtube	muscle
13	chr4:95587800-95598400	Weak transcription	HSMM	muscle
14	chr4:95588000-95598400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr4:95588000-95599800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:95589800-95597600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:95589800-95598000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr4:95590000-95599800	Weak transcription	NH-A	brain
19	chr4:95590200-95599800	Weak transcription	HMEC	breast
20	chr4:95590800-95601200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:95591600-95597800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:95591800-95597800	Weak transcription	Osteobl	bone
23	chr4:95592400-95598200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:95592600-95598000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:95592600-95601200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:95592800-95597800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr4:95592800-95599800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:95593000-95597400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:95594200-95598200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:95596000-95598400	Weak transcription	NHDF-Ad	bronchial
31	chr4:95596000-95601200	Enhancers	A549	lung
32	chr4:95596200-95599400	Enhancers	Fetal Muscle Leg	muscle

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