Variant report

Variant	rs60705164
Chromosome Location	chr3:144482919-144482920
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:144459658..144462426-chr3:144481491..144483613,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1512781	1.00[ASN][1000 genomes]
rs16855936	0.91[ASN][1000 genomes]
rs16855937	0.91[ASN][1000 genomes]
rs16855941	0.94[ASN][1000 genomes]
rs16855943	0.91[ASN][1000 genomes]
rs16855950	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16855955	0.89[ASN][1000 genomes]
rs1916250	0.89[ASN][1000 genomes]
rs1916251	0.89[ASN][1000 genomes]
rs56380437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56807652	0.91[ASN][1000 genomes]
rs59664363	0.97[ASN][1000 genomes]
rs60322313	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60535604	0.89[ASN][1000 genomes]
rs61400914	1.00[ASN][1000 genomes]
rs61429069	1.00[ASN][1000 genomes]
rs61465948	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6440267	1.00[ASN][1000 genomes]
rs6771295	1.00[ASN][1000 genomes]
rs6782105	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6790055	0.91[ASN][1000 genomes]
rs6790749	0.91[ASN][1000 genomes]
rs6791002	0.91[ASN][1000 genomes]
rs6791012	0.91[ASN][1000 genomes]
rs6793649	1.00[ASN][1000 genomes]
rs6803084	0.91[ASN][1000 genomes]
rs73008056	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7340591	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73873579	0.89[ASN][1000 genomes]
rs7611272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7615860	0.91[ASN][1000 genomes]
rs7630559	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7635998	0.95[ASN][1000 genomes]
rs7636179	0.95[ASN][1000 genomes]
rs7636248	0.95[ASN][1000 genomes]
rs7641230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7641244	0.89[ASN][1000 genomes]
rs7641516	0.89[ASN][1000 genomes]
rs7646035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651550	0.89[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	nsv591928	chr3:144050897-144822081	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3357831	chr3:144433846-144790831	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv3405013	chr3:144433866-144790801	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv829746	chr3:144451478-144618224	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv829747	chr3:144463330-144654092	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv275317	chr3:144482382-144486520	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144480200-144483000	Weak transcription	Fetal Lung	lung
2	chr3:144482600-144483400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr3:144482600-144483400	Active TSS	Brain Angular Gyrus	brain
4	chr3:144482600-144483400	Active TSS	Brain Anterior Caudate	brain
5	chr3:144482600-144483400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr3:144482600-144483400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr3:144482600-144483400	Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr3:144482600-144483400	Active TSS	HMEC	breast
9	chr3:144482600-144483600	Active TSS	Brain Hippocampus Middle	brain
10	chr3:144482600-144483600	Active TSS	Brain Substantia Nigra	brain
11	chr3:144482600-144484200	Active TSS	Brain Cingulate Gyrus	brain
12	chr3:144482800-144483200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:144482800-144483200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:144482800-144483200	Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr3:144482800-144483200	Active TSS	Adipose Nuclei	Adipose
16	chr3:144482800-144483200	Active TSS	Aorta	Aorta
17	chr3:144482800-144483200	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr3:144482800-144483200	Active TSS	Ovary	ovary
19	chr3:144482800-144483200	Active TSS	Psoas Muscle	Psoas
20	chr3:144482800-144483200	Active TSS	Right Atrium	heart
21	chr3:144482800-144483200	Active TSS	A549	lung
22	chr3:144482800-144483200	Active TSS	Hela-S3	cervix
23	chr3:144482800-144483200	Active TSS	HUVEC	blood vessel
24	chr3:144482800-144483200	Active TSS	NHEK	skin
25	chr3:144482800-144483400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:144482800-144483400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:144482800-144483400	Active TSS	Fetal Intestine Small	intestine
28	chr3:144482800-144483400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr3:144482800-144483400	Active TSS	HSMMtube	muscle
30	chr3:144482800-144483600	Active TSS	GM12878-XiMat	blood

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