Variant report

Variant	rs2273121
Chromosome Location	chr11:33757770-33757771
allele	C/T
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33757533..33758403-chr3:64008748..64009625,2	MCF-7	breast:
2	chr11:33757585..33758318-chr20:30194790..30195725,2	Hela-S3	cervix:
3	chr11:33741862..33744483-chr11:33754300..33758090,5	K562	blood:
4	chr11:33757403..33758388-chr17:8286172..8286715,2	Hela-S3	cervix:
5	chr11:33757510..33758097-chr5:153570140..153570756,2	Hela-S3	cervix:
6	chr11:33181954..33184910-chr11:33755905..33758961,3	K562	blood:
7	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
8	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
9	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:
10	chr11:33757628..33758397-chr7:64466569..64467103,2	Hela-S3	cervix:
11	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:
12	chr11:33757603..33758362-chrX:47004560..47005124,2	Hela-S3	cervix:
13	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
14	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
15	chr11:33730241..33733771-chr11:33754827..33758431,3	K562	blood:
16	chr11:33757522..33758216-chr9:116172881..116173475,2	Hela-S3	cervix:
17	chr11:33757523..33758138-chr6:33281662..33282491,2	Hela-S3	cervix:
18	chr11:33757539..33758409-chr3:149095089..149095776,2	Hela-S3	cervix:
19	chr11:33757745..33758430-chr19:55919090..55919756,2	Hela-S3	cervix:
20	chr11:33757149..33758094-chr20:35917596..35918508,2	Hela-S3	cervix:
21	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
22	chr11:33757743..33759681-chr11:33794774..33797554,2	MCF-7	breast:
23	chr11:33757702..33758578-chr17:56708712..56709407,2	HCT-116	colon:
24	chr1:46215984..46216935-chr11:33757514..33758077,2	Hela-S3	cervix:
25	chr1:173836645..173837514-chr11:33757450..33758406,2	Hela-S3	cervix:
26	chr11:33757495..33758097-chr12:46766051..46766636,2	Hela-S3	cervix:
27	chr11:33756868..33759532-chr11:33768759..33770986,2	MCF-7	breast:
28	chr11:33757165..33758030-chr19:54958964..54959862,2	Hela-S3	cervix:
29	chr11:33757417..33758177-chr3:73159968..73160572,3	Hela-S3	cervix:
30	chr11:33750894..33752859-chr11:33753319..33757778,3	K562	blood:
31	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:
32	chr11:33756995..33757978-chr7:65958672..65959243,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000110429	Chromatin interaction
ENSG00000263809	Chromatin interaction
ENSG00000237310	Chromatin interaction
ENSG00000169908	Chromatin interaction
ENSG00000161970	Chromatin interaction
ENSG00000213462	Chromatin interaction
ENSG00000231925	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000247151	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000134294	Chromatin interaction
ENSG00000152926	Chromatin interaction
ENSG00000163636	Chromatin interaction
ENSG00000182872	Chromatin interaction
ENSG00000205177	Chromatin interaction
ENSG00000197429	Chromatin interaction
ENSG00000226696	Chromatin interaction
ENSG00000254508	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000223247	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000240541	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000255272	Chromatin interaction
ENSG00000101363	Chromatin interaction
ENSG00000147123	Chromatin interaction
ENSG00000157653	Chromatin interaction
ENSG00000164574	Chromatin interaction
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10501127	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[MKK][hapmap];1.00[ASN][1000 genomes]
rs11032385	0.88[GIH][hapmap]
rs11599935	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11607549	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12420580	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1522086	0.82[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17760306	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17760694	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17767323	0.81[CEU][hapmap];0.84[AMR][1000 genomes]
rs3181268	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3181269	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56026019	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61887473	1.00[ASN][1000 genomes]
rs61887474	1.00[ASN][1000 genomes]
rs61887477	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7930105	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7941387	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7943459	0.82[AMR][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2273121	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs2273121	CD59	cis	Artery Tibial	GTEx
rs2273121	CD59	cis	Esophagus Muscularis	GTEx
rs2273121	CD59	cis	cerebellum	SCAN

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	chr11:33754800-33758400	Active TSS	Psoas Muscle	Psoas
3	chr11:33755200-33758600	Active TSS	Right Atrium	heart
4	chr11:33755400-33758000	Active TSS	HSMM	muscle
5	chr11:33755400-33758200	Active TSS	Lung	lung
6	chr11:33755400-33758400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:33755600-33758000	Active TSS	Colonic Mucosa	Colon
8	chr11:33755600-33758200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:33755800-33758000	Active TSS	Placenta	Placenta
10	chr11:33755800-33758000	Active TSS	Placenta Amnion	Placenta Amnion
11	chr11:33755800-33758200	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr11:33755800-33758200	Active TSS	HUVEC	blood vessel
13	chr11:33755800-33758400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:33755800-33758400	Active TSS	Aorta	Aorta
15	chr11:33755800-33758400	Active TSS	Brain Cingulate Gyrus	brain
16	chr11:33755800-33758400	Active TSS	Esophagus	oesophagus
17	chr11:33755800-33758400	Active TSS	Left Ventricle	heart
18	chr11:33755800-33758400	Active TSS	NHDF-Ad	bronchial
19	chr11:33755800-33758400	Active TSS	NHLF	lung
20	chr11:33755800-33758600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr11:33756000-33758200	Active TSS	Fetal Stomach	stomach
22	chr11:33756000-33758200	Active TSS	Gastric	stomach
23	chr11:33756000-33758400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr11:33756000-33758400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:33756000-33758600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:33756200-33758000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:33756200-33758000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr11:33756200-33758400	Active TSS	Pancreas	Pancrea
29	chr11:33756200-33758600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:33756200-33758600	Active TSS	Brain Hippocampus Middle	brain
31	chr11:33756400-33757800	Active TSS	Stomach Mucosa	stomach
32	chr11:33756400-33758000	Active TSS	Small Intestine	intestine
33	chr11:33756400-33758000	Active TSS	GM12878-XiMat	blood
34	chr11:33756400-33758400	Active TSS	Ovary	ovary
35	chr11:33756400-33758400	Active TSS	A549	lung
36	chr11:33756600-33758000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr11:33756600-33758000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:33756600-33758000	Active TSS	Stomach Smooth Muscle	stomach
39	chr11:33756600-33758400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr11:33756600-33758400	Active TSS	Brain Angular Gyrus	brain
41	chr11:33756600-33758400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:33756600-33758400	Active TSS	Fetal Kidney	kidney
43	chr11:33756600-33758400	Active TSS	Thymus	Thymus
44	chr11:33756600-33758600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
45	chr11:33756800-33757800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:33756800-33758000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr11:33756800-33758000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr11:33756800-33758000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:33756800-33758000	Active TSS	Spleen	Spleen
50	chr11:33756800-33758000	Active TSS	HSMMtube	muscle

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