Variant report

Variant	rs831619
Chromosome Location	chr11:33733839-33733840
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	chr11:33733708-33734324	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:33726536..33728687-chr11:33732022..33734323,2	K562	blood:
2	chr11:33731840..33734773-chr11:33739797..33742664,2	K562	blood:

Variant related genes	Relation type
CD59	TF binding region
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10501127	1.00[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs12420580	0.89[CEU][hapmap]
rs1522088	0.90[JPT][hapmap]
rs16924726	0.90[JPT][hapmap]
rs17760306	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2686246	0.90[JPT][hapmap]
rs704700	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831598	0.90[JPT][hapmap]
rs831601	0.90[JPT][hapmap]
rs831614	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs831626	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs831628	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs831632	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs831637	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[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
rs831619	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs831619	CD59	cis	Artery Tibial	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33723000-33746000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:33723200-33737400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:33723200-33744400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:33723200-33744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:33723400-33735000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:33723400-33741400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:33723400-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
11	chr11:33726400-33739800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:33726600-33734200	Strong transcription	K562	blood
13	chr11:33726800-33736000	Strong transcription	HSMMtube	muscle
14	chr11:33726800-33741400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr11:33727000-33735000	Strong transcription	NH-A	brain
16	chr11:33727000-33738200	Strong transcription	HSMM	muscle
17	chr11:33728200-33736000	Strong transcription	Fetal Thymus	thymus
18	chr11:33728200-33744000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr11:33728400-33744600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:33728600-33736000	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:33728600-33738200	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr11:33728600-33745000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:33729200-33737000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:33729200-33740000	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:33729200-33742400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:33729200-33743200	Strong transcription	GM12878-XiMat	blood
27	chr11:33729600-33735400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:33729600-33736400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr11:33729800-33736400	Strong transcription	Placenta	Placenta
30	chr11:33729800-33742400	Strong transcription	Osteobl	bone
31	chr11:33730000-33734200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr11:33730400-33736400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:33730600-33734400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:33731000-33741400	Weak transcription	Fetal Brain Male	brain
35	chr11:33731200-33736400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:33731200-33736800	Strong transcription	NHEK	skin
37	chr11:33731400-33734600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:33731400-33736200	Strong transcription	NHDF-Ad	bronchial
39	chr11:33731400-33736600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:33731600-33734000	Weak transcription	Fetal Heart	heart
41	chr11:33731600-33734800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:33731600-33736000	Strong transcription	HMEC	breast
43	chr11:33731600-33737000	Strong transcription	Adipose Nuclei	Adipose
44	chr11:33731800-33734000	Weak transcription	Brain Germinal Matrix	brain
45	chr11:33731800-33734000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr11:33731800-33734800	Weak transcription	Psoas Muscle	Psoas
47	chr11:33731800-33734800	Weak transcription	Stomach Mucosa	stomach
48	chr11:33731800-33735400	Strong transcription	Left Ventricle	heart
49	chr11:33731800-33735400	Weak transcription	Small Intestine	intestine
50	chr11:33731800-33737000	Weak transcription	Colonic Mucosa	Colon

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