Variant report

Variant	rs73493345
Chromosome Location	chr13:48541546-48541547
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	chr13:48541315..48543966-chr13:48557894..48560541,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11148101	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11148102	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11148103	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11148104	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11148105	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11838821	1.00[EUR][1000 genomes]
rs11840013	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11840146	1.00[EUR][1000 genomes]
rs11840694	1.00[EUR][1000 genomes]
rs11841025	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11841089	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11841517	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11842190	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11842654	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12427769	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12428098	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12428738	1.00[EUR][1000 genomes]
rs12428782	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12428797	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12429895	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12429926	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12430608	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12584124	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12584625	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12584738	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12585232	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12585517	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12585580	1.00[EUR][1000 genomes]
rs12585766	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12585890	1.00[EUR][1000 genomes]
rs1410116	0.82[ASN][1000 genomes]
rs2148247	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2296572	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35535367	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3742108	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3782979	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56670154	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57530384	1.00[EUR][1000 genomes]
rs57916684	1.00[EUR][1000 genomes]
rs58080658	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59447207	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59776562	1.00[EUR][1000 genomes]
rs59845585	1.00[EUR][1000 genomes]
rs59991172	1.00[EUR][1000 genomes]
rs60398625	1.00[EUR][1000 genomes]
rs60718136	1.00[EUR][1000 genomes]
rs60828855	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61403342	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73477042	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73479175	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73479183	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73479186	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73479195	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73479199	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73479200	0.83[ASN][1000 genomes]
rs73481207	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73481212	0.83[ASN][1000 genomes]
rs73481217	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73481223	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73481228	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73481239	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73481250	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73481261	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73481266	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73481271	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73481288	1.00[EUR][1000 genomes]
rs73483108	1.00[EUR][1000 genomes]
rs73483122	1.00[EUR][1000 genomes]
rs73483220	1.00[EUR][1000 genomes]
rs73483277	1.00[EUR][1000 genomes]
rs73483293	1.00[EUR][1000 genomes]
rs73485326	1.00[EUR][1000 genomes]
rs73485330	1.00[EUR][1000 genomes]
rs73485345	1.00[EUR][1000 genomes]
rs73485349	1.00[EUR][1000 genomes]
rs73485356	1.00[EUR][1000 genomes]
rs73487241	1.00[EUR][1000 genomes]
rs73487264	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487269	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73489207	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73489232	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73493331	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990408	1.00[EUR][1000 genomes];0.84[ASN][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	nsv933980	chr13:48431000-48557419	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48507200-48548800	Weak transcription	Stomach Mucosa	stomach
2	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr13:48523000-48541600	Weak transcription	Psoas Muscle	Psoas
4	chr13:48523000-48542600	Weak transcription	K562	blood
5	chr13:48528000-48545800	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:48532000-48551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:48532400-48546000	Weak transcription	Aorta	Aorta
9	chr13:48532400-48559400	Weak transcription	Gastric	stomach
10	chr13:48532400-48565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:48532600-48545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:48532800-48545800	Weak transcription	Brain Substantia Nigra	brain
13	chr13:48533800-48548000	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr13:48534000-48543000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr13:48534000-48560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr13:48534200-48541600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr13:48534200-48542800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:48534200-48542800	Strong transcription	Adipose Nuclei	Adipose
19	chr13:48534200-48543000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:48534200-48545200	Weak transcription	Spleen	Spleen
21	chr13:48534200-48545800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
23	chr13:48534400-48543200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr13:48534400-48544400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
26	chr13:48534600-48546000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr13:48534600-48550400	Weak transcription	Right Ventricle	heart
28	chr13:48535000-48564800	Weak transcription	NHLF	lung
29	chr13:48535200-48545000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr13:48535200-48552000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr13:48536000-48550400	Weak transcription	Fetal Heart	heart
32	chr13:48536200-48542800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr13:48536200-48550000	Weak transcription	NHEK	skin
34	chr13:48536400-48543000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr13:48536600-48542800	Strong transcription	HSMM	muscle
36	chr13:48536800-48547800	Strong transcription	Liver	Liver
37	chr13:48537000-48542800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:48537200-48541600	Weak transcription	Esophagus	oesophagus
39	chr13:48537200-48541800	Weak transcription	HMEC	breast
40	chr13:48537200-48543000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:48537200-48544800	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr13:48537200-48574200	Weak transcription	Colonic Mucosa	Colon
43	chr13:48537400-48542000	Strong transcription	Fetal Intestine Small	intestine
44	chr13:48537400-48543400	Strong transcription	Osteobl	bone
45	chr13:48537400-48545400	Weak transcription	Pancreas	Pancrea
46	chr13:48537400-48560200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr13:48537400-48574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr13:48537400-48574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:48537800-48543400	Strong transcription	HepG2	liver
50	chr13:48538000-48567200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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