Variant report

Variant	rs1718067
Chromosome Location	chr11:33759670-33759671
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:33757534-33759812	PBDE	blood:	n/a	n/a
2	GATA1	chr11:33757516-33759858	PBDE	blood:	n/a	chr11:33759815-33759825
3	CUX1	chr11:33758896-33759865	K562	blood:	n/a	n/a
4	GATA1	chr11:33757572-33759865	K562	blood:	n/a	chr11:33759815-33759825
5	CHD1	chr11:33755060-33759895	IMR90	lung:	n/a	n/a
6	EP300	chr11:33757919-33759733	K562	blood:	n/a	chr11:33758281-33758295 chr11:33758011-33758027 chr11:33758065-33758081 chr11:33757968-33757984
7	RCOR1	chr11:33758505-33759730	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
2	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
3	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:
4	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
5	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
6	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
7	chr11:33757743..33759681-chr11:33794774..33797554,2	MCF-7	breast:
8	chr11:33758430..33760609-chr11:33786708..33788444,2	K562	blood:
9	chr11:33759115..33761231-chr11:33763394..33765544,2	K562	blood:
10	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:

Variant related genes	Relation type
CD59	TF binding region
ENSG00000254508	Chromatin interaction
ENSG00000205177	Chromatin interaction
ENSG00000255272	Chromatin interaction
ENSG00000085063	Chromatin interaction
ENSG00000110429	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10768025	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836107	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836110	0.87[CEU][hapmap]
rs1096561	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11032367	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032372	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11032373	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1112841	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12224154	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12806824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1522084	0.86[CEU][hapmap]
rs1522085	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2252927	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2272064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2686245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746601	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2746602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4756002	0.86[CEU][hapmap]
rs6484665	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7116243	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7938603	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831592	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs831595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831603	0.80[AMR][1000 genomes]
rs831629	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs831633	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs831635	0.80[CEU][hapmap]
rs861256	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs884710	0.86[CEU][hapmap]
rs953142	0.86[CEU][hapmap]
rs999479	0.81[CEU][hapmap]

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
rs1718067	CD59	cis	Esophagus Muscularis	GTEx
rs1718067	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs1718067	CD59	cis	Artery Tibial	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33757800-33764600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr11:33758000-33760400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:33758000-33764400	Weak transcription	Spleen	Spleen
4	chr11:33758000-33770200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:33758200-33764400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:33758200-33764400	Weak transcription	Gastric	stomach
7	chr11:33758200-33766400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:33758400-33759800	Flanking Active TSS	K562	blood
9	chr11:33758400-33764400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr11:33758400-33764400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:33758400-33764400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:33758400-33764400	Weak transcription	Thymus	Thymus
13	chr11:33758400-33764600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr11:33758600-33760000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:33758600-33763200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr11:33758600-33764200	Weak transcription	Primary B cells from cord blood	blood
17	chr11:33758600-33764200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr11:33758600-33764200	Weak transcription	Primary T cells from cord blood	blood
19	chr11:33758600-33764200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:33758600-33764400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:33758600-33764400	Weak transcription	Ovary	ovary
22	chr11:33758600-33765800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr11:33758600-33767800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:33758600-33770200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr11:33758800-33759800	Enhancers	Osteobl	bone
26	chr11:33758800-33760000	Enhancers	Fetal Lung	lung
27	chr11:33758800-33760400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:33758800-33760800	Weak transcription	Liver	Liver
29	chr11:33758800-33764200	Weak transcription	Fetal Brain Female	brain
30	chr11:33758800-33764400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr11:33758800-33764400	Weak transcription	Aorta	Aorta
32	chr11:33758800-33764600	Weak transcription	Dnd41	blood
33	chr11:33758800-33764800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr11:33758800-33765000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:33758800-33768000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:33758800-33768400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:33758800-33770000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:33758800-33770800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr11:33758800-33771800	Weak transcription	Brain Angular Gyrus	brain
40	chr11:33758800-33774600	Weak transcription	Esophagus	oesophagus
41	chr11:33758800-33795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:33759000-33759800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:33759000-33759800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:33759000-33760000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:33759000-33760000	Enhancers	A549	lung
46	chr11:33759000-33760400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:33759000-33760400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:33759000-33760400	Enhancers	NHLF	lung
49	chr11:33759000-33763200	Weak transcription	Fetal Thymus	thymus
50	chr11:33759000-33764400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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