Variant report

Variant	rs9534888
Chromosome Location	chr13:48545905-48545906
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11617530	0.83[ASN][1000 genomes]
rs1571256	0.95[JPT][hapmap]
rs2104480	0.89[JPT][hapmap]
rs2147502	0.81[ASN][1000 genomes]
rs2148246	0.95[JPT][hapmap]
rs2148938	0.95[JPT][hapmap]
rs2274189	0.83[ASN][1000 genomes]
rs2406690	0.81[CHB][hapmap]
rs2406709	0.95[JPT][hapmap]
rs28874956	0.82[ASN][1000 genomes]
rs4142533	0.80[ASN][1000 genomes]
rs4294712	0.93[CEU][hapmap];0.80[AMR][1000 genomes]
rs4369555	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4941623	0.95[JPT][hapmap]
rs4942712	0.91[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs4942717	0.83[ASN][1000 genomes]
rs4942718	0.83[ASN][1000 genomes]
rs55633570	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56399021	0.80[AMR][1000 genomes]
rs61972224	0.83[ASN][1000 genomes]
rs61973324	0.81[AMR][1000 genomes]
rs7324484	0.95[JPT][hapmap]
rs9526406	0.81[ASN][1000 genomes]
rs9526407	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs9526411	0.82[ASN][1000 genomes]
rs9526414	0.83[ASN][1000 genomes]
rs9526416	0.83[ASN][1000 genomes]
rs9526442	0.93[CEU][hapmap];0.95[JPT][hapmap]
rs9526443	0.92[CEU][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes]
rs9534856	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs9534857	0.95[CHB][hapmap];0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs9534858	0.84[ASN][1000 genomes]
rs9534860	0.84[ASN][1000 genomes]
rs9534861	0.81[ASN][1000 genomes]
rs9534863	0.83[ASN][1000 genomes]
rs9534895	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534900	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534931	0.81[AMR][1000 genomes]
rs9534933	0.80[AMR][1000 genomes]
rs9534937	0.93[CEU][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes]
rs9534939	0.92[CEU][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes]
rs9534944	1.00[JPT][hapmap]
rs9534946	0.80[AMR][1000 genomes]
rs9534947	0.92[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs9534948	0.80[AMR][1000 genomes]
rs9534965	0.88[CEU][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes]
rs9567994	0.90[JPT][hapmap]

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:123 , 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	chr13:48532000-48551400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:48532200-48565200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:48532400-48546000	Weak transcription	Aorta	Aorta
6	chr13:48532400-48559400	Weak transcription	Gastric	stomach
7	chr13:48532400-48565200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr13:48533800-48548000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr13:48534000-48560800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr13:48534200-48573200	Weak transcription	Brain Angular Gyrus	brain
11	chr13:48534400-48574400	Weak transcription	Small Intestine	intestine
12	chr13:48534600-48546000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr13:48534600-48550400	Weak transcription	Right Ventricle	heart
14	chr13:48535000-48564800	Weak transcription	NHLF	lung
15	chr13:48535200-48552000	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr13:48536000-48550400	Weak transcription	Fetal Heart	heart
17	chr13:48536200-48550000	Weak transcription	NHEK	skin
18	chr13:48536800-48547800	Strong transcription	Liver	Liver
19	chr13:48537200-48574200	Weak transcription	Colonic Mucosa	Colon
20	chr13:48537400-48560200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr13:48537400-48574000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr13:48537400-48574400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:48538000-48567200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr13:48538400-48547200	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr13:48538400-48551000	Weak transcription	Fetal Brain Male	brain
26	chr13:48538400-48551600	Weak transcription	Brain Hippocampus Middle	brain
27	chr13:48538400-48574000	Weak transcription	Hela-S3	cervix
28	chr13:48538600-48559800	Weak transcription	HUVEC	blood vessel
29	chr13:48538800-48564800	Weak transcription	Brain Germinal Matrix	brain
30	chr13:48539400-48551800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:48539600-48546000	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:48539600-48571200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr13:48540000-48574200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr13:48540200-48546200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:48540200-48552600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr13:48540200-48559000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr13:48540400-48546000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr13:48540400-48546000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:48540400-48546200	Weak transcription	Fetal Brain Female	brain
40	chr13:48540600-48546000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr13:48540600-48546000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr13:48540600-48550000	Weak transcription	HSMMtube	muscle
43	chr13:48540800-48548400	Weak transcription	NHDF-Ad	bronchial
44	chr13:48540800-48565000	Weak transcription	NH-A	brain
45	chr13:48541200-48549200	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:48541800-48550000	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr13:48542000-48546000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:48542000-48546200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:48542000-48548000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr13:48542000-48558800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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