Variant report

Variant	rs9534511
Chromosome Location	chr13:47468580-47468581
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	chr13:47468549..47470115-chr13:47475402..47477806,2	K562	blood:
2	chr13:47405567..47406326-chr13:47467958..47468849,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1328683	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2070037	0.91[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2070040	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2296973	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs2760349	0.89[ASN][1000 genomes]
rs2770302	0.81[JPT][hapmap]
rs4941573	0.80[CHD][hapmap];0.86[JPT][hapmap];0.84[ASN][1000 genomes]
rs4941574	0.84[ASN][1000 genomes]
rs4942587	0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs6311	0.80[CHD][hapmap]
rs6313	0.80[CHD][hapmap]
rs689099	0.90[ASN][1000 genomes]
rs7324343	0.82[JPT][hapmap]
rs9316236	0.83[ASN][1000 genomes]
rs9534510	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9567747	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2763019	chr13:47348229-48123447	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs9534511	ZC3H13	cis	parietal	SCAN
rs9534511	LRCH1	cis	parietal	SCAN
rs9534511	SIAH3	cis	cerebellum	SCAN
rs9534511	RB1	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:47466000-47468800	Active TSS	Brain Angular Gyrus	brain
2	chr13:47466200-47471400	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr13:47466200-47472000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr13:47466800-47470800	Active TSS	Brain Cingulate Gyrus	brain
5	chr13:47467400-47471600	Active TSS	Brain Hippocampus Middle	brain
6	chr13:47467400-47471600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr13:47467600-47468600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:47467600-47468600	Active TSS	Colon Smooth Muscle	Colon
9	chr13:47467600-47468800	Active TSS	Fetal Kidney	kidney
10	chr13:47467600-47468800	Active TSS	Rectal Smooth Muscle	rectum
11	chr13:47467600-47469000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:47467600-47471400	Active TSS	HSMMtube	muscle
13	chr13:47467600-47471600	Active TSS	NHDF-Ad	bronchial
14	chr13:47467800-47468600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
15	chr13:47467800-47468600	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
16	chr13:47467800-47468600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:47467800-47468600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:47467800-47468600	Active TSS	Brain Anterior Caudate	brain
19	chr13:47467800-47468600	Active TSS	Brain Substantia Nigra	brain
20	chr13:47467800-47468600	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr13:47467800-47468600	Bivalent/Poised TSS	NH-A	brain
22	chr13:47467800-47468800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr13:47467800-47468800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr13:47467800-47468800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr13:47467800-47468800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr13:47467800-47468800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr13:47467800-47468800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr13:47467800-47468800	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr13:47467800-47468800	Flanking Active TSS	Liver	Liver
30	chr13:47467800-47468800	Active TSS	Brain Germinal Matrix	brain
31	chr13:47467800-47468800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
32	chr13:47467800-47468800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
33	chr13:47467800-47468800	Active TSS	Psoas Muscle	Psoas
34	chr13:47467800-47468800	Active TSS	Right Ventricle	heart
35	chr13:47467800-47468800	Bivalent/Poised TSS	A549	lung
36	chr13:47467800-47468800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr13:47467800-47468800	Active TSS	NHLF	lung
38	chr13:47467800-47469000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:47467800-47469000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
40	chr13:47467800-47469000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr13:47467800-47469000	Active TSS	Ovary	ovary
42	chr13:47467800-47471400	Active TSS	Right Atrium	heart
43	chr13:47467800-47471600	Active TSS	Aorta	Aorta
44	chr13:47468000-47468600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:47468000-47468600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr13:47468000-47468600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr13:47468000-47468600	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr13:47468000-47468600	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr13:47468000-47468600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:47468000-47468600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood

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