Variant report

Variant	rs9526538
Chromosome Location	chr13:49868044-49868045
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	chr13:49865941..49868717-chr13:49870815..49873076,2	K562	blood:
2	chr13:49867730..49869911-chr13:49874326..49876304,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10459375	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10459376	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11843587	0.83[EUR][1000 genomes]
rs12585196	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1924659	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1924660	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1924661	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2038759	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2147398	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2181905	0.88[EUR][1000 genomes]
rs2274149	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2274150	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2407521	0.84[EUR][1000 genomes]
rs2407607	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2407608	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2407609	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3087770	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764131	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4245351	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4941637	0.83[EUR][1000 genomes]
rs4942809	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942811	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4942812	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4942815	0.82[EUR][1000 genomes]
rs6561511	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs719614	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7320595	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7320745	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7326181	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7326191	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7328063	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7330892	0.82[EUR][1000 genomes]
rs7334929	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7984689	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7988621	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7997545	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7999710	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9316434	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9316437	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9316439	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9526533	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526534	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526535	0.85[ASN][1000 genomes]
rs9526537	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526539	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535173	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535174	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535177	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535180	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535181	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535182	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535184	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9535185	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9535190	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535192	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9535193	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535194	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535197	0.86[EUR][1000 genomes]
rs9535198	0.83[EUR][1000 genomes]
rs9535199	0.82[EUR][1000 genomes]
rs9562873	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9568174	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9568176	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568177	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568179	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568181	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568182	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9591249	0.85[EUR][1000 genomes]
rs9596077	0.88[EUR][1000 genomes]
rs9596078	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9596079	0.82[EUR][1000 genomes]
rs9596080	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
2	chr13:49834200-49875200	Weak transcription	Gastric	stomach
3	chr13:49834800-49873000	Weak transcription	HMEC	breast
4	chr13:49834800-49875400	Weak transcription	Esophagus	oesophagus
5	chr13:49835800-49875200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr13:49835800-49875200	Weak transcription	GM12878-XiMat	blood
7	chr13:49838600-49875400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:49842600-49874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:49842800-49869400	Weak transcription	Lung	lung
10	chr13:49842800-49875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:49842800-49875400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr13:49842800-49875400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:49848000-49873800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr13:49853800-49875400	Weak transcription	Primary T cells from cord blood	blood
15	chr13:49853800-49875400	Weak transcription	Fetal Intestine Large	intestine
16	chr13:49854000-49871400	Weak transcription	Spleen	Spleen
17	chr13:49854000-49875000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr13:49854000-49875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:49854000-49875200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr13:49854000-49877600	Weak transcription	Left Ventricle	heart
21	chr13:49854000-49883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr13:49855000-49875200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr13:49857200-49875200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:49861400-49869600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:49862000-49875400	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr13:49862000-49875600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr13:49863000-49872200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:49863200-49875000	Weak transcription	Dnd41	blood
29	chr13:49865000-49871600	Weak transcription	Pancreas	Pancrea
30	chr13:49865800-49868400	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr13:49866600-49868400	Enhancers	Fetal Lung	lung
32	chr13:49866600-49871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:49866800-49869400	Enhancers	Ovary	ovary
34	chr13:49867200-49868400	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr13:49867200-49868800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr13:49867200-49871600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr13:49867200-49872400	Weak transcription	Brain Substantia Nigra	brain
38	chr13:49867200-49872600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr13:49867200-49874600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr13:49867200-49874600	Weak transcription	Fetal Muscle Leg	muscle
41	chr13:49867200-49875200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:49867200-49875200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr13:49867200-49875200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr13:49867200-49875200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr13:49867200-49875200	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:49867200-49876800	Weak transcription	Thymus	Thymus
47	chr13:49867200-49884200	Weak transcription	Fetal Brain Female	brain
48	chr13:49867400-49869200	Weak transcription	Brain Anterior Caudate	brain
49	chr13:49867400-49869200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr13:49867400-49869200	Weak transcription	Stomach Smooth Muscle	stomach

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