Variant report

Variant	rs9579486
Chromosome Location	chr13:30384948-30384949
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11618361	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17502901	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs278042	0.90[CHB][hapmap]
rs2892463	0.95[CHB][hapmap]
rs3783244	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4769022	0.83[AMR][1000 genomes]
rs4769777	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs720083	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9314979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9508555	0.95[CHB][hapmap]
rs9578138	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9579483	0.93[AFR][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	nsv899961	chr13:30226924-30407273	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30363800-30385000	Weak transcription	Left Ventricle	heart
2	chr13:30376400-30386000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr13:30376600-30385200	Weak transcription	Lung	lung
4	chr13:30376600-30385600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:30377400-30390000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr13:30378000-30391800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr13:30380600-30386800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:30381200-30385800	Enhancers	Brain Angular Gyrus	brain
10	chr13:30381400-30385600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr13:30381400-30386600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr13:30381400-30386800	Enhancers	Stomach Mucosa	stomach
13	chr13:30381600-30390600	Weak transcription	Primary B cells from peripheral blood	blood
14	chr13:30382600-30388000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:30382600-30388800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr13:30382600-30390800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:30382800-30385800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr13:30383200-30385000	Enhancers	Adipose Nuclei	Adipose
19	chr13:30383200-30385600	Enhancers	Brain Cingulate Gyrus	brain
20	chr13:30383200-30385800	Enhancers	Brain Anterior Caudate	brain
21	chr13:30383200-30385800	Enhancers	Brain Hippocampus Middle	brain
22	chr13:30383200-30385800	Enhancers	Fetal Heart	heart
23	chr13:30383200-30385800	Enhancers	Small Intestine	intestine
24	chr13:30383200-30386000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr13:30383200-30386200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:30383200-30386600	Enhancers	HepG2	liver
27	chr13:30383400-30385600	Enhancers	Fetal Lung	lung
28	chr13:30383400-30385800	Enhancers	Duodenum Mucosa	Duodenum
29	chr13:30383400-30385800	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr13:30383400-30386000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr13:30383600-30385600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:30383600-30385800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr13:30383600-30385800	Enhancers	Brain Substantia Nigra	brain
34	chr13:30383600-30389200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr13:30383800-30385000	Weak transcription	Right Ventricle	heart
36	chr13:30384000-30385000	Weak transcription	Pancreas	Pancrea
37	chr13:30384000-30385000	Weak transcription	Psoas Muscle	Psoas
38	chr13:30384000-30385200	Weak transcription	Gastric	stomach
39	chr13:30384000-30385400	Enhancers	Colon Smooth Muscle	Colon
40	chr13:30384000-30385600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr13:30384000-30386000	Enhancers	Fetal Intestine Small	intestine
42	chr13:30384200-30385200	Enhancers	Fetal Stomach	stomach
43	chr13:30384200-30385200	Enhancers	A549	lung
44	chr13:30384200-30385600	Enhancers	Brain Germinal Matrix	brain
45	chr13:30384200-30386000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:30384200-30386000	Enhancers	Stomach Smooth Muscle	stomach
47	chr13:30384400-30385200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr13:30384400-30385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:30384400-30385800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr13:30384400-30385800	Enhancers	Fetal Intestine Large	intestine

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