Variant report

Variant	rs1359615
Chromosome Location	chr13:48535318-48535319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11839719	0.83[EUR][1000 genomes]
rs12428259	0.83[EUR][1000 genomes]
rs12429137	0.83[EUR][1000 genomes]
rs12430773	0.83[EUR][1000 genomes]
rs12431098	0.83[EUR][1000 genomes]
rs12431108	0.83[EUR][1000 genomes]
rs17071331	0.97[AMR][1000 genomes]
rs1886445	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1886446	1.00[ASN][1000 genomes]
rs4941625	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4941626	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4942733	0.83[EUR][1000 genomes]
rs4942745	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57898553	0.89[AMR][1000 genomes]
rs7327265	0.83[EUR][1000 genomes]
rs73477056	0.83[EUR][1000 genomes]
rs73477058	0.83[EUR][1000 genomes]
rs73487297	0.83[EUR][1000 genomes]
rs73489242	0.83[EUR][1000 genomes]
rs73493339	0.83[EUR][1000 genomes]
rs73493351	0.83[EUR][1000 genomes]
rs7982426	0.83[EUR][1000 genomes]
rs7991049	0.83[EUR][1000 genomes]
rs7992167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7997668	0.96[ASN][1000 genomes]
rs7999360	0.83[EUR][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:119 , 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	chr13:48511000-48536600	Weak transcription	Esophagus	oesophagus
3	chr13:48512600-48537600	Weak transcription	Hela-S3	cervix
4	chr13:48514400-48574000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr13:48523000-48541600	Weak transcription	Psoas Muscle	Psoas
6	chr13:48523000-48542600	Weak transcription	K562	blood
7	chr13:48523200-48536600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr13:48528000-48545800	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:48528600-48541000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:48529200-48537200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr13:48529400-48537000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr13:48529400-48540200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
13	chr13:48529600-48535800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:48530000-48537200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr13:48530000-48538400	ZNF genes & repeats	Dnd41	blood
16	chr13:48530000-48541000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:48530000-48541200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
18	chr13:48530600-48537200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr13:48530600-48538400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr13:48530600-48538800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr13:48530600-48540200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr13:48530600-48540400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr13:48531000-48536800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr13:48531800-48536600	Weak transcription	Pancreas	Pancrea
25	chr13:48532000-48536800	Weak transcription	Colonic Mucosa	Colon
26	chr13:48532000-48540800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr13:48532000-48551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:48532400-48536200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr13:48532400-48536400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:48532400-48536600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr13:48532400-48536600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr13:48532400-48536600	Weak transcription	Fetal Stomach	stomach
34	chr13:48532400-48536600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr13:48532400-48536800	Weak transcription	Lung	lung
36	chr13:48532400-48539800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:48532400-48540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:48532400-48546000	Weak transcription	Aorta	Aorta
39	chr13:48532400-48559400	Weak transcription	Gastric	stomach
40	chr13:48532400-48565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr13:48532600-48536800	Weak transcription	Liver	Liver
42	chr13:48532600-48545800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr13:48532800-48535800	Weak transcription	Osteobl	bone
44	chr13:48532800-48545800	Weak transcription	Brain Substantia Nigra	brain
45	chr13:48533200-48540600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr13:48533600-48535400	ZNF genes & repeats	Fetal Brain Female	brain
47	chr13:48533600-48536200	ZNF genes & repeats	HepG2	liver
48	chr13:48533600-48539400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:48533600-48540200	Strong transcription	Placenta	Placenta
50	chr13:48533800-48536000	Strong transcription	Fetal Heart	heart

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