Variant report

Variant	rs2513511
Chromosome Location	chr11:76252631-76252632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76250200..76253023-chr11:76260666..76263366,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10793164	0.95[CHD][hapmap];0.81[JPT][hapmap]
rs11236761	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11606394	0.97[CHD][hapmap];0.86[JPT][hapmap]
rs2155220	0.88[ASN][1000 genomes]
rs2251075	0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2508738	0.84[ASN][1000 genomes]
rs2508756	0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs2513514	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513515	0.85[ASN][1000 genomes]
rs3016373	0.85[ASN][1000 genomes]
rs4625500	0.85[JPT][hapmap]
rs4945087	0.92[CHD][hapmap];0.81[JPT][hapmap]
rs7928101	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7940390	0.86[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	nsv1050713	chr11:76147085-76267117	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1848387	chr11:76243699-76262652	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2513511	PLEKHB1	cis	parietal	SCAN
rs2513511	CHRDL2	cis	cerebellum	SCAN
rs2513511	RNF169	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76205200-76254400	Weak transcription	Aorta	Aorta
2	chr11:76205400-76254600	Weak transcription	Right Ventricle	heart
3	chr11:76205400-76255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:76207400-76254400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:76213000-76254200	Weak transcription	Fetal Heart	heart
6	chr11:76220000-76255600	Weak transcription	Small Intestine	intestine
7	chr11:76222200-76252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:76224200-76254600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:76224400-76262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:76224400-76263800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:76225400-76253200	Weak transcription	HSMMtube	muscle
12	chr11:76230000-76265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:76233600-76258800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr11:76233800-76258600	Strong transcription	Primary T helper cells PMA-I stimulated	--
15	chr11:76233800-76260200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:76233800-76262000	Strong transcription	Placenta	Placenta
17	chr11:76233800-76262400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:76233800-76262600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr11:76233800-76263200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:76234000-76262600	Strong transcription	Dnd41	blood
21	chr11:76234200-76262000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr11:76234800-76263000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr11:76236000-76254400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr11:76236000-76254400	Weak transcription	Gastric	stomach
25	chr11:76236200-76253200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:76236200-76254400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:76236200-76254400	Weak transcription	Pancreas	Pancrea
28	chr11:76236400-76255400	Weak transcription	HMEC	breast
29	chr11:76236400-76255600	Weak transcription	Esophagus	oesophagus
30	chr11:76236400-76255600	Weak transcription	Psoas Muscle	Psoas
31	chr11:76236400-76261800	Weak transcription	Stomach Mucosa	stomach
32	chr11:76237400-76261200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:76239000-76259800	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:76239000-76261600	Strong transcription	Liver	Liver
35	chr11:76239600-76259000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr11:76239600-76262000	Strong transcription	Primary T cells from cord blood	blood
37	chr11:76239600-76262200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:76239800-76259400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:76240200-76254600	Weak transcription	HUVEC	blood vessel
40	chr11:76240400-76254200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:76240600-76253000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:76240800-76255400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:76241200-76253200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:76243200-76254200	Weak transcription	HepG2	liver
45	chr11:76243600-76254000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:76244800-76253400	Weak transcription	A549	lung
47	chr11:76245000-76254600	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:76245200-76252800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:76245200-76253000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr11:76245200-76255200	Weak transcription	Brain Germinal Matrix	brain

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