Variant report

Variant	rs73493331
Chromosome Location	chr13:48537952-48537953
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

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	1.00[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	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12430773	0.89[AFR][1000 genomes]
rs12431098	0.89[AFR][1000 genomes]
rs12431108	0.89[AFR][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	0.86[AFR][1000 genomes];1.00[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	0.86[AFR][1000 genomes];1.00[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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73487269	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73489207	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73489232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73489242	0.89[AFR][1000 genomes]
rs73493345	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:125 , 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	chr13:48528600-48541000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:48529400-48540200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr13:48530000-48538400	ZNF genes & repeats	Dnd41	blood
9	chr13:48530000-48541000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:48530000-48541200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr13:48530600-48538400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
12	chr13:48530600-48538800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr13:48530600-48540200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr13:48530600-48540400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr13:48532000-48540800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr13:48532000-48551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:48532400-48539800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:48532400-48540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr13:48532400-48546000	Weak transcription	Aorta	Aorta
21	chr13:48532400-48559400	Weak transcription	Gastric	stomach
22	chr13:48532400-48565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:48532600-48545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:48532800-48545800	Weak transcription	Brain Substantia Nigra	brain
25	chr13:48533200-48540600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:48533600-48539400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:48533600-48540200	Strong transcription	Placenta	Placenta
28	chr13:48533800-48548000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr13:48534000-48538400	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:48534000-48540400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr13:48534000-48541200	Strong transcription	Fetal Thymus	thymus
32	chr13:48534000-48543000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr13:48534000-48560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr13:48534200-48538000	Weak transcription	NH-A	brain
35	chr13:48534200-48538600	Strong transcription	Fetal Kidney	kidney
36	chr13:48534200-48540400	Strong transcription	Primary T cells from cord blood	blood
37	chr13:48534200-48540600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:48534200-48540600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr13:48534200-48540600	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr13:48534200-48541400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr13:48534200-48541600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr13:48534200-48542800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr13:48534200-48542800	Strong transcription	Adipose Nuclei	Adipose
44	chr13:48534200-48543000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:48534200-48545200	Weak transcription	Spleen	Spleen
46	chr13:48534200-48545800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
48	chr13:48534400-48538000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr13:48534400-48538200	Strong transcription	Fetal Lung	lung
50	chr13:48534400-48539200	Weak transcription	Stomach Smooth Muscle	stomach

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