Variant report

Variant	rs4676827
Chromosome Location	chr3:120452898-120452899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13077101	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1466960	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs322456	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35490764	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs386748	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs388747	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs428008	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs447978	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487267	0.81[EUR][1000 genomes]
rs487414	0.81[EUR][1000 genomes]
rs9849411	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120402800-120456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:120416400-120460600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:120416800-120460600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:120417600-120456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:120423000-120460200	Weak transcription	HUVEC	blood vessel
6	chr3:120425000-120456600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:120429200-120456200	Weak transcription	Liver	Liver
8	chr3:120438400-120456200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr3:120438400-120457600	Weak transcription	Fetal Lung	lung
10	chr3:120438400-120460200	Weak transcription	NHEK	skin
11	chr3:120438400-120460600	Weak transcription	Brain Anterior Caudate	brain
12	chr3:120438400-120460600	Weak transcription	Right Ventricle	heart
13	chr3:120438600-120456200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:120438600-120456400	Weak transcription	Left Ventricle	heart
15	chr3:120438600-120456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:120438600-120457000	Weak transcription	Spleen	Spleen
17	chr3:120438600-120457200	Weak transcription	Pancreas	Pancrea
18	chr3:120438600-120460000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr3:120438600-120460400	Weak transcription	Rectal Smooth Muscle	rectum
20	chr3:120439000-120456400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:120439000-120456600	Weak transcription	Lung	lung
22	chr3:120439000-120457000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:120439000-120460200	Weak transcription	Primary B cells from cord blood	blood
24	chr3:120439200-120460200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:120439800-120460200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr3:120441200-120456600	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:120441200-120456600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:120441400-120460000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr3:120441600-120456600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:120441600-120457000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:120442600-120460400	Weak transcription	Brain Substantia Nigra	brain
32	chr3:120443800-120456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:120443800-120460200	Weak transcription	HSMM	muscle
34	chr3:120445000-120460600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr3:120445200-120454800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:120446000-120456600	Weak transcription	A549	lung
37	chr3:120446200-120456200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:120446800-120460400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr3:120447000-120456600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:120447000-120456600	Weak transcription	Fetal Thymus	thymus
41	chr3:120447200-120456200	Weak transcription	Fetal Intestine Large	intestine
42	chr3:120447200-120460200	Weak transcription	Brain Angular Gyrus	brain
43	chr3:120447200-120460600	Weak transcription	Fetal Heart	heart
44	chr3:120447400-120456400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr3:120447600-120456800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr3:120447600-120460200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:120447600-120460200	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr3:120447800-120456400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:120448200-120456200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr3:120448200-120460200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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