Variant report

Variant	rs6804912
Chromosome Location	chr3:110911976-110911977
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs3733174	0.89[EUR][1000 genomes]
rs3733175	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4682233	0.89[AMR][1000 genomes]
rs4682236	0.89[AMR][1000 genomes]
rs4682239	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4682241	0.89[AMR][1000 genomes]
rs58423117	0.89[AMR][1000 genomes]
rs59248935	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61035297	0.89[AMR][1000 genomes]
rs6437956	0.89[AMR][1000 genomes]
rs6796451	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72935984	0.89[AMR][1000 genomes]
rs72935992	0.89[AMR][1000 genomes]
rs72937909	0.89[AMR][1000 genomes]
rs72937914	0.89[AMR][1000 genomes]
rs72937920	0.89[AMR][1000 genomes]
rs72937925	0.89[AMR][1000 genomes]
rs72937928	0.89[AMR][1000 genomes]
rs72937940	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72937946	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72937954	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72937963	0.89[AMR][1000 genomes]
rs72937987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7619417	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637704	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv829675	chr3:110885605-111101858	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv877339	chr3:110889974-111070554	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv963553	chr3:110910542-110913573	Weak transcription Strong transcription Enhancers	CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr3:110853000-110919600	Weak transcription	Fetal Brain Male	brain
3	chr3:110869400-110929000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr3:110871000-110914200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:110872200-110913800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:110872600-110918800	Weak transcription	Colon Smooth Muscle	Colon
7	chr3:110874200-110912000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr3:110874800-110913000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:110881000-110928000	Weak transcription	Osteobl	bone
10	chr3:110890200-110913200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:110890800-110919800	Weak transcription	Brain Hippocampus Middle	brain
12	chr3:110892000-110915800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:110892400-110912800	Weak transcription	HepG2	liver
14	chr3:110893000-110916200	Weak transcription	A549	lung
15	chr3:110893200-110912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:110893200-110912200	Weak transcription	NHDF-Ad	bronchial
17	chr3:110894000-110922800	Weak transcription	Gastric	stomach
18	chr3:110894000-110924000	Weak transcription	Fetal Stomach	stomach
19	chr3:110894000-110934400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:110894200-110913800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr3:110894200-110914200	Weak transcription	Aorta	Aorta
22	chr3:110894200-110924800	Weak transcription	Fetal Intestine Small	intestine
23	chr3:110894200-110925600	Weak transcription	NHLF	lung
24	chr3:110894200-110929600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr3:110899200-110935200	Weak transcription	Lung	lung
26	chr3:110901400-110918000	Weak transcription	Small Intestine	intestine
27	chr3:110903000-110918200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr3:110903400-110916400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:110903400-110929200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr3:110904200-110912400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:110904200-110912600	Weak transcription	Fetal Kidney	kidney
32	chr3:110907400-110914000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr3:110907600-110917200	Strong transcription	Fetal Lung	lung
34	chr3:110907800-110915400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:110908000-110917000	Strong transcription	Placenta	Placenta
36	chr3:110908600-110916000	Strong transcription	Dnd41	blood
37	chr3:110908800-110912200	Weak transcription	HSMMtube	muscle
38	chr3:110908800-110915800	Weak transcription	Brain Angular Gyrus	brain
39	chr3:110909200-110915400	Weak transcription	HUVEC	blood vessel
40	chr3:110909800-110915400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:110909800-110918600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr3:110910000-110915600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:110910000-110917600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:110910000-110918600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr3:110910200-110915200	Strong transcription	Ovary	ovary
46	chr3:110910200-110927200	Weak transcription	Rectal Smooth Muscle	rectum
47	chr3:110910400-110917000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:110910400-110917200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:110910600-110913200	Weak transcription	Colonic Mucosa	Colon
50	chr3:110910600-110916800	Weak transcription	Stomach Mucosa	stomach

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