Variant report

Variant	rs3181269
Chromosome Location	chr11:33755956-33755957
allele	A/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr11:33755519..33757046-chr11:33757707..33760516,2	K562	blood:
9	chr11:33730241..33733771-chr11:33754827..33758431,3	K562	blood:
10	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
11	chr11:33750894..33752859-chr11:33753319..33757778,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000247151	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000205177	Chromatin interaction
ENSG00000176102	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10501127	1.00[ASN][1000 genomes]
rs11599935	1.00[ASN][1000 genomes]
rs11607549	1.00[ASN][1000 genomes]
rs12420580	1.00[ASN][1000 genomes]
rs1522086	1.00[ASN][1000 genomes]
rs17760306	1.00[ASN][1000 genomes]
rs17760694	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2273121	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3181268	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56026019	1.00[ASN][1000 genomes]
rs61887473	1.00[ASN][1000 genomes]
rs61887474	1.00[ASN][1000 genomes]
rs61887477	1.00[ASN][1000 genomes]
rs7930105	1.00[ASN][1000 genomes]
rs7941387	1.00[ASN][1000 genomes]
rs7943459	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3181269	CD59	cis	Esophagus Muscularis	GTEx
rs3181269	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs3181269	CD59	cis	Artery Tibial	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33744000-33756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:33744400-33756200	Weak transcription	Primary T cells from cord blood	blood
3	chr11:33745400-33756200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:33746200-33756200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:33746600-33756400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:33746600-33756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:33746600-33756400	Weak transcription	Fetal Kidney	kidney
8	chr11:33746600-33756600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:33747000-33756000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:33747000-33756000	Weak transcription	Fetal Stomach	stomach
11	chr11:33750800-33757000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:33752000-33757000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
13	chr11:33753000-33756000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr11:33753000-33756000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:33753000-33756400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:33753000-33757000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:33753000-33757000	Transcr. at gene 5' and 3'	HMEC	breast
18	chr11:33753000-33757000	Transcr. at gene 5' and 3'	NHEK	skin
19	chr11:33753800-33756000	Enhancers	HepG2	liver
20	chr11:33754000-33758600	Active TSS	Right Ventricle	heart
21	chr11:33754400-33756000	Enhancers	Stomach Mucosa	stomach
22	chr11:33754600-33756000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:33754600-33756000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:33754800-33756000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr11:33754800-33756000	Weak transcription	Fetal Intestine Large	intestine
26	chr11:33754800-33757600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:33754800-33758400	Active TSS	Psoas Muscle	Psoas
28	chr11:33755000-33756200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:33755000-33756600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:33755200-33756000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:33755200-33756400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:33755200-33756400	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:33755200-33756400	Transcr. at gene 5' and 3'	NH-A	brain
34	chr11:33755200-33757000	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:33755200-33758600	Active TSS	Right Atrium	heart
36	chr11:33755400-33756000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:33755400-33756000	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:33755400-33756000	Enhancers	Fetal Muscle Leg	muscle
39	chr11:33755400-33756200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr11:33755400-33756200	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr11:33755400-33756200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:33755400-33756200	Enhancers	Small Intestine	intestine
43	chr11:33755400-33756400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr11:33755400-33756400	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr11:33755400-33756400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr11:33755400-33756400	Transcr. at gene 5' and 3'	A549	lung
47	chr11:33755400-33756800	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr11:33755400-33756800	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr11:33755400-33756800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr11:33755400-33757000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung

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