Variant report

Variant	rs4334619
Chromosome Location	chr3:141308454-141308455
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141307980..141309540-chr3:141314236..141316394,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11557453	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11707656	0.90[EUR][1000 genomes]
rs11711318	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11713714	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11714208	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11716776	0.82[EUR][1000 genomes]
rs11717144	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11717842	0.83[EUR][1000 genomes]
rs12695736	0.82[EUR][1000 genomes]
rs12695740	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12695741	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12695743	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13062809	0.90[ASN][1000 genomes]
rs13067519	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13068454	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13078872	0.83[EUR][1000 genomes]
rs13083593	0.82[EUR][1000 genomes]
rs13084444	0.84[EUR][1000 genomes]
rs13095168	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13099945	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2312194	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2312266	0.90[EUR][1000 genomes]
rs34317570	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34342794	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3732872	0.81[ASN][1000 genomes]
rs3806647	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71619392	0.81[EUR][1000 genomes]
rs720663	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7651511	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9289634	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9808953	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9822575	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9823528	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9829588	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9830055	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9833121	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9836050	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9836818	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9838230	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9838419	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9840159	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9840697	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9843866	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9849180	0.83[EUR][1000 genomes]
rs9850416	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9865971	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9868956	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9870749	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9873042	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141254800-141319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:141255200-141320000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:141255400-141319200	Weak transcription	Aorta	Aorta
4	chr3:141265200-141336200	Weak transcription	Psoas Muscle	Psoas
5	chr3:141272600-141319200	Strong transcription	Dnd41	blood
6	chr3:141275800-141320600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:141276400-141329400	Weak transcription	Small Intestine	intestine
8	chr3:141277200-141341400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:141277800-141312000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr3:141281800-141329400	Weak transcription	Fetal Brain Male	brain
11	chr3:141288000-141312400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:141288200-141320000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:141288400-141316400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr3:141288600-141316400	Strong transcription	Primary B cells from peripheral blood	blood
15	chr3:141289000-141311800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr3:141289000-141316600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr3:141289200-141309000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:141289200-141316400	Strong transcription	Fetal Thymus	thymus
19	chr3:141293800-141319000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr3:141294800-141319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr3:141295000-141319200	Weak transcription	Esophagus	oesophagus
22	chr3:141295200-141320000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:141295400-141314000	Weak transcription	Colonic Mucosa	Colon
24	chr3:141295600-141319600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr3:141295600-141320000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:141295800-141313000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr3:141295800-141316400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:141295800-141320800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr3:141296000-141316000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:141296200-141309000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr3:141296600-141312200	Strong transcription	Primary B cells from cord blood	blood
32	chr3:141296800-141310800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr3:141296800-141316400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:141296800-141316600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:141297000-141313600	Strong transcription	Primary T cells from cord blood	blood
36	chr3:141297400-141312400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr3:141297600-141316400	Strong transcription	Osteobl	bone
38	chr3:141297600-141325000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:141298000-141328400	Weak transcription	Hela-S3	cervix
40	chr3:141298600-141312600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr3:141298600-141326800	Weak transcription	Fetal Heart	heart
42	chr3:141299800-141321000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr3:141300200-141328800	Weak transcription	K562	blood
44	chr3:141300400-141310000	Weak transcription	Fetal Kidney	kidney
45	chr3:141300400-141319200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:141300600-141308800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr3:141300600-141310000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr3:141300600-141310200	Weak transcription	Fetal Brain Female	brain
49	chr3:141300600-141314400	Weak transcription	Fetal Stomach	stomach
50	chr3:141300600-141319000	Weak transcription	Lung	lung

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