Variant report

Variant	rs586713
Chromosome Location	chr11:63375490-63375491
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:63374200..63376653-chr11:63448488..63450702,2	K562	blood:
2	chr11:63374913..63376548-chr11:63380673..63383197,2	K562	blood:

Variant related genes	Relation type
ENSG00000133318	Chromatin interaction
ENSG00000176485	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10792420	0.95[ASN][1000 genomes]
rs10897438	0.96[ASN][1000 genomes]
rs10897439	0.83[ASN][1000 genomes]
rs11231528	0.95[ASN][1000 genomes]
rs11600655	0.95[ASN][1000 genomes]
rs11601432	0.86[ASN][1000 genomes]
rs2030731	0.95[ASN][1000 genomes]
rs3809072	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809073	0.96[ASN][1000 genomes]
rs59386292	0.83[ASN][1000 genomes]
rs627194	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs641638	0.82[ASN][1000 genomes]
rs7101608	0.96[ASN][1000 genomes]
rs7111905	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7115616	0.96[ASN][1000 genomes]
rs7131579	0.97[ASN][1000 genomes]
rs7940076	0.82[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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs586713	PLA2G16	cis	Artery Tibial	GTEx
rs586713	HRASLS3	Cis_1M	lymphoblastoid	RTeQTL
rs586713	PLA2G16	cis	Whole Blood	GTEx
rs586713	PLA2G16	cis	Esophagus Muscularis	GTEx

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63343000-63376600	Weak transcription	Colonic Mucosa	Colon
2	chr11:63350000-63375800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:63350200-63377000	Weak transcription	Hela-S3	cervix
4	chr11:63356800-63381000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:63357600-63380400	Weak transcription	NHLF	lung
6	chr11:63358800-63377000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:63359600-63375800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:63361200-63376800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:63362000-63378000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:63363000-63377000	Weak transcription	Esophagus	oesophagus
11	chr11:63364600-63376200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr11:63366400-63376600	Weak transcription	Lung	lung
13	chr11:63366800-63375800	Weak transcription	Spleen	Spleen
14	chr11:63367000-63377000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:63367800-63377600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:63370000-63376600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:63370800-63375600	Weak transcription	HSMM	muscle
18	chr11:63370800-63376000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:63370800-63376200	Weak transcription	Small Intestine	intestine
20	chr11:63371000-63375800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:63371000-63376200	Weak transcription	Stomach Mucosa	stomach
22	chr11:63371000-63376400	Weak transcription	Fetal Intestine Small	intestine
23	chr11:63371000-63376600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr11:63371000-63376800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr11:63371000-63376800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:63371000-63377000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr11:63371000-63380400	Weak transcription	Aorta	Aorta
28	chr11:63371200-63375600	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:63371200-63375800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:63371200-63376000	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:63371200-63376200	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:63371400-63375800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:63371400-63375800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:63371400-63375800	Weak transcription	HSMMtube	muscle
35	chr11:63371400-63376600	Enhancers	Brain Hippocampus Middle	brain
36	chr11:63371600-63375600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:63371600-63375600	Weak transcription	Osteobl	bone
38	chr11:63371600-63376600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:63371600-63376800	Weak transcription	Left Ventricle	heart
40	chr11:63371800-63375600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:63372000-63375800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:63372600-63375800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:63372600-63376800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:63372800-63376600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:63373200-63376400	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr11:63374000-63378200	Enhancers	Placenta	Placenta
47	chr11:63374400-63376400	Weak transcription	Right Ventricle	heart
48	chr11:63374600-63375800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:63374600-63380200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr11:63374800-63375600	Weak transcription	Brain Cingulate Gyrus	brain

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