Variant report

Variant	rs3181268
Chromosome Location	chr11:33757173-33757174
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33744704..33746248-chr11:33754825..33757634,2	K562	blood:
2	chr11:33729830..33732493-chr11:33755604..33757742,2	MCF-7	breast:
3	chr11:33741862..33744483-chr11:33754300..33758090,5	K562	blood:
4	chr11:33181954..33184910-chr11:33755905..33758961,3	K562	blood:
5	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
6	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
7	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:
8	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:
9	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
10	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
11	chr11:33730241..33733771-chr11:33754827..33758431,3	K562	blood:
12	chr11:33757149..33758094-chr20:35917596..35918508,2	Hela-S3	cervix:
13	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
14	chr11:33756868..33759532-chr11:33768759..33770986,2	MCF-7	breast:
15	chr11:33757165..33758030-chr19:54958964..54959862,2	Hela-S3	cervix:
16	chr11:33750894..33752859-chr11:33753319..33757778,3	K562	blood:
17	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:
18	chr11:33756995..33757978-chr7:65958672..65959243,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000226696	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000110429	Chromatin interaction
ENSG00000205177	Chromatin interaction
ENSG00000101363	Chromatin interaction
ENSG00000254508	Chromatin interaction
ENSG00000237310	Chromatin interaction
ENSG00000255272	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000247151	Chromatin interaction

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[CHB][hapmap];1.00[ASN][1000 genomes]
rs10768030	0.82[CEU][hapmap]
rs11032377	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11032385	0.90[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11599935	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601836	0.82[EUR][1000 genomes]
rs11607434	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11607549	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608235	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12419271	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12420580	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1522086	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17760306	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17760694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17767323	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2273121	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3181269	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55933775	0.83[AMR][1000 genomes]
rs56026019	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60691031	0.83[EUR][1000 genomes]
rs61887473	1.00[ASN][1000 genomes]
rs61887474	1.00[ASN][1000 genomes]
rs61887477	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930105	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7941387	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943459	0.90[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	nsv832113	chr11:33609202-33767781	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3181268	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs3181268	CD59	cis	Artery Tibial	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33754000-33758600	Active TSS	Right Ventricle	heart
2	chr11:33754800-33757600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr11:33754800-33758400	Active TSS	Psoas Muscle	Psoas
4	chr11:33755200-33758600	Active TSS	Right Atrium	heart
5	chr11:33755400-33757200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr11:33755400-33758000	Active TSS	HSMM	muscle
7	chr11:33755400-33758200	Active TSS	Lung	lung
8	chr11:33755400-33758400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr11:33755600-33757200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:33755600-33758000	Active TSS	Colonic Mucosa	Colon
11	chr11:33755600-33758200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr11:33755800-33758000	Active TSS	Placenta	Placenta
13	chr11:33755800-33758000	Active TSS	Placenta Amnion	Placenta Amnion
14	chr11:33755800-33758200	Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:33755800-33758200	Active TSS	HUVEC	blood vessel
16	chr11:33755800-33758400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:33755800-33758400	Active TSS	Aorta	Aorta
18	chr11:33755800-33758400	Active TSS	Brain Cingulate Gyrus	brain
19	chr11:33755800-33758400	Active TSS	Esophagus	oesophagus
20	chr11:33755800-33758400	Active TSS	Left Ventricle	heart
21	chr11:33755800-33758400	Active TSS	NHDF-Ad	bronchial
22	chr11:33755800-33758400	Active TSS	NHLF	lung
23	chr11:33755800-33758600	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr11:33756000-33757200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr11:33756000-33757200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr11:33756000-33757200	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr11:33756000-33757200	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr11:33756000-33758200	Active TSS	Fetal Stomach	stomach
29	chr11:33756000-33758200	Active TSS	Gastric	stomach
30	chr11:33756000-33758400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr11:33756000-33758400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:33756000-33758600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:33756200-33757200	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr11:33756200-33758000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:33756200-33758000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:33756200-33758400	Active TSS	Pancreas	Pancrea
37	chr11:33756200-33758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:33756200-33758600	Active TSS	Brain Hippocampus Middle	brain
39	chr11:33756400-33757200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:33756400-33757200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr11:33756400-33757200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:33756400-33757200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:33756400-33757200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr11:33756400-33757400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
45	chr11:33756400-33757800	Active TSS	Stomach Mucosa	stomach
46	chr11:33756400-33758000	Active TSS	Small Intestine	intestine
47	chr11:33756400-33758000	Active TSS	GM12878-XiMat	blood
48	chr11:33756400-33758400	Active TSS	Ovary	ovary
49	chr11:33756400-33758400	Active TSS	A549	lung
50	chr11:33756600-33757200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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