Variant report

Variant	rs56026019
Chromosome Location	chr11:33793407-33793408
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10501127	1.00[ASN][1000 genomes]
rs11032377	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11032385	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11599935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601836	0.83[EUR][1000 genomes]
rs11607434	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11607549	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608235	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12419271	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12420580	1.00[ASN][1000 genomes]
rs1522086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17760306	1.00[ASN][1000 genomes]
rs17760694	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767323	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2273121	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3181268	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181269	1.00[ASN][1000 genomes]
rs55933775	0.83[AMR][1000 genomes]
rs60691031	0.84[EUR][1000 genomes]
rs61887473	1.00[ASN][1000 genomes]
rs61887474	1.00[ASN][1000 genomes]
rs61887477	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7480506	0.82[AFR][1000 genomes]
rs7930105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941387	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943459	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv523356	chr11:33777334-33797408	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56026019	CD59	cis	Artery Tibial	GTEx
rs56026019	CD59	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33758800-33795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:33759000-33795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:33765400-33793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:33769600-33795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:33778800-33794600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:33779600-33795000	Weak transcription	Colonic Mucosa	Colon
7	chr11:33786200-33793600	Weak transcription	Fetal Heart	heart
8	chr11:33786200-33793600	Weak transcription	Small Intestine	intestine
9	chr11:33786600-33794000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:33787600-33794400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:33787600-33795000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:33787800-33794000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr11:33787800-33794200	Weak transcription	Fetal Intestine Small	intestine
14	chr11:33788000-33793600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:33788000-33794000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:33788000-33794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:33788000-33794800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr11:33788200-33794400	Weak transcription	Fetal Brain Male	brain
19	chr11:33788400-33793600	Weak transcription	Stomach Mucosa	stomach
20	chr11:33788400-33793600	Weak transcription	Spleen	Spleen
21	chr11:33788400-33794000	Weak transcription	Esophagus	oesophagus
22	chr11:33788400-33794000	Weak transcription	Gastric	stomach
23	chr11:33788600-33794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr11:33788600-33794200	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:33788800-33794800	Weak transcription	HSMMtube	muscle
26	chr11:33789200-33794400	Weak transcription	Fetal Stomach	stomach
27	chr11:33789400-33794000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:33789600-33794800	Weak transcription	HUVEC	blood vessel
29	chr11:33789800-33793600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:33790200-33794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:33790400-33794000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:33790400-33794000	Weak transcription	Fetal Brain Female	brain
33	chr11:33790400-33794000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr11:33790400-33794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr11:33790400-33794800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:33790400-33795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:33790600-33794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:33790600-33794000	Weak transcription	Left Ventricle	heart
39	chr11:33790600-33794200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:33790600-33794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:33790800-33793600	Enhancers	NHEK	skin
42	chr11:33790800-33793800	Weak transcription	Hela-S3	cervix
43	chr11:33790800-33795000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:33791200-33794400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:33791400-33794000	Weak transcription	Placenta	Placenta
46	chr11:33791400-33794000	Weak transcription	NHLF	lung
47	chr11:33791400-33794800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:33791400-33794800	Weak transcription	Osteobl	bone
49	chr11:33791600-33794000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:33791800-33794000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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