Variant report

Variant	rs34464850
Chromosome Location	chr3:141721762-141721763
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11569198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11569216	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11569256	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12495978	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13069749	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1543064	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1820941	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2063453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2063454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271386	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2861421	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2862122	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2862123	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2862124	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2862125	0.91[AMR][1000 genomes]
rs2862126	0.80[ASN][1000 genomes]
rs34092379	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34486172	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34514405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34579489	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35486283	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35597264	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35787200	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3811708	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3817176	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4315664	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4315665	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4683417	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56129773	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62283132	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6764833	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6778085	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6795301	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6795500	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6803884	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6806443	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7619506	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7630837	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7633321	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7638352	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs907293	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9289641	0.95[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs963396	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9863685	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs9865777	0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs9880805	0.93[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1013352	chr3:141541105-141870293	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1002446	chr3:141719169-142070290	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141629000-141739200	Weak transcription	Psoas Muscle	Psoas
2	chr3:141671800-141724000	Weak transcription	Right Ventricle	heart
3	chr3:141671800-141735600	Weak transcription	Aorta	Aorta
4	chr3:141677800-141739000	Weak transcription	Left Ventricle	heart
5	chr3:141678800-141745600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr3:141680000-141731200	Weak transcription	Fetal Brain Female	brain
7	chr3:141680800-141723200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:141682600-141723400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:141682800-141724600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr3:141682800-141739000	Weak transcription	Pancreas	Pancrea
11	chr3:141682800-141745800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:141682800-141746200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:141683800-141746600	Weak transcription	Lung	lung
14	chr3:141688800-141729000	Strong transcription	Fetal Thymus	thymus
15	chr3:141691800-141722800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:141697400-141727200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:141697600-141725800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:141698600-141738800	Weak transcription	HSMM	muscle
19	chr3:141704200-141725400	Weak transcription	Spleen	Spleen
20	chr3:141706400-141746200	Weak transcription	Fetal Lung	lung
21	chr3:141707200-141734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:141708400-141731200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:141708600-141728400	Weak transcription	Liver	Liver
24	chr3:141708600-141745200	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:141709600-141721800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:141711800-141732400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:141713000-141722400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr3:141713000-141724400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:141713200-141722800	Weak transcription	Primary B cells from cord blood	blood
30	chr3:141714200-141722800	Weak transcription	Adipose Nuclei	Adipose
31	chr3:141715800-141723200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:141716000-141722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr3:141716000-141722400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr3:141716000-141723000	Weak transcription	HSMMtube	muscle
35	chr3:141716000-141724600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:141716000-141732400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:141716000-141738600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:141716000-141745600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr3:141716200-141722800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr3:141716600-141724000	Weak transcription	Ovary	ovary
41	chr3:141717000-141722000	Weak transcription	Fetal Kidney	kidney
42	chr3:141717000-141722400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr3:141718600-141724200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:141719000-141722600	Strong transcription	Thymus	Thymus
45	chr3:141719000-141724200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:141719200-141722000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr3:141719600-141723000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr3:141719600-141724600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:141719600-141738600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:141719600-141738600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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