Variant report

Variant	rs4678322
Chromosome Location	chr3:135812523-135812524
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs34330586	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34894639	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3772390	0.88[ASN][1000 genomes]
rs4431046	0.83[AFR][1000 genomes]
rs4678361	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61791721	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61791757	0.85[EUR][1000 genomes]
rs645040	0.80[EUR][1000 genomes]
rs6779146	0.83[EUR][1000 genomes]
rs687339	0.80[EUR][1000 genomes]
rs9840812	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9865841	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv4023	chr3:135772198-135816635	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135790200-135830800	Weak transcription	Psoas Muscle	Psoas
2	chr3:135800400-135815400	Strong transcription	Stomach Smooth Muscle	stomach
3	chr3:135803000-135826600	Weak transcription	Liver	Liver
4	chr3:135803400-135848000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:135803600-135821600	Weak transcription	Right Ventricle	heart
6	chr3:135803600-135860600	Weak transcription	Esophagus	oesophagus
7	chr3:135803800-135832400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:135803800-135860000	Weak transcription	NHLF	lung
9	chr3:135804000-135814800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:135804000-135832000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:135804000-135833200	Weak transcription	HMEC	breast
12	chr3:135804200-135819400	Weak transcription	Colonic Mucosa	Colon
13	chr3:135804600-135822200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:135805000-135813200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:135805200-135832000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:135805200-135832800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:135805400-135843800	Weak transcription	NHEK	skin
18	chr3:135807200-135822000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:135807400-135833200	Weak transcription	Lung	lung
20	chr3:135808800-135813000	Strong transcription	Fetal Lung	lung
21	chr3:135808800-135814800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:135809000-135812800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:135809200-135816400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:135809400-135812800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr3:135809400-135814000	Strong transcription	HSMM	muscle
26	chr3:135809400-135815000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr3:135809600-135812800	Strong transcription	Colon Smooth Muscle	Colon
28	chr3:135809600-135813200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:135809600-135814400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr3:135810000-135816200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:135810000-135828800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr3:135810200-135822200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:135810200-135822200	Weak transcription	Brain Anterior Caudate	brain
34	chr3:135810200-135825600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr3:135810200-135827800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:135810200-135832800	Weak transcription	Brain Angular Gyrus	brain
37	chr3:135810200-135835600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr3:135810200-135835800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr3:135810400-135812600	Weak transcription	Fetal Heart	heart
40	chr3:135810400-135819600	Weak transcription	HSMMtube	muscle
41	chr3:135810400-135820800	Weak transcription	Fetal Kidney	kidney
42	chr3:135810400-135820800	Weak transcription	Left Ventricle	heart
43	chr3:135810400-135820800	Weak transcription	Ovary	ovary
44	chr3:135810400-135821000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:135810400-135821400	Weak transcription	Fetal Brain Female	brain
46	chr3:135810400-135821600	Weak transcription	Adipose Nuclei	Adipose
47	chr3:135810400-135822000	Weak transcription	Brain Germinal Matrix	brain
48	chr3:135810400-135822000	Weak transcription	Fetal Intestine Large	intestine
49	chr3:135810400-135822200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:135810400-135822200	Weak transcription	Aorta	Aorta

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