Variant report

Variant	rs831617
Chromosome Location	chr11:33723211-33723212
allele	G/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	chr11:33721866-33724317	U87	brain:	n/a	n/a
2	STAT3	chr11:33722140-33724183	MCF10A-Er-Src	breast:	n/a	chr11:33722703-33722717 chr11:33722411-33722423
3	MAX	chr11:33722033-33724028	A549	lung:	n/a	chr11:33722471-33722481
4	FOS	chr11:33722672-33723258	MCF10A-Er-Src	breast:	n/a	n/a
5	REST	chr11:33721876-33723426	H1-neurons	neurons:	n/a	chr11:33722634-33722647 chr11:33722491-33722501 chr11:33722757-33722770
6	POLR2A	chr11:33722077-33723793	U87	brain:	n/a	n/a
7	POLR2A	chr11:33722124-33725044	MCF10A-Er-Src	breast:	n/a	n/a
8	TAF1	chr11:33722130-33723225	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr11:33721313-33723788	HUVEC	blood vessel:	n/a	n/a
10	PML	chr11:33722066-33723219	GM12878	blood:	n/a	n/a
11	NR3C1	chr11:33722832-33723772	A549	lung:	n/a	chr11:33723493-33723507 chr11:33723089-33723103
12	POLR2A	chr11:33722085-33723937	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:33722071-33724569	PANC-1	pancreas:	n/a	n/a
14	NR3C1	chr11:33722814-33723753	A549	lung:	n/a	chr11:33723493-33723507 chr11:33723089-33723103
15	FOS	chr11:33722195-33723669	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr11:33720749-33723814	HepG2	liver:	n/a	n/a
17	MYC	chr11:33722403-33723852	MCF10A-Er-Src	breast:	n/a	chr11:33722471-33722481
18	POLR2A	chr11:33722158-33723343	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr11:33722169-33723489	GM12878	blood:	n/a	n/a
20	POLR2A	chr11:33720710-33723657	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:33722150-33723918	MCF10A-Er-Src	breast:	n/a	n/a
22	BCL3	chr11:33722525-33723364	A549	lung:	n/a	chr11:33722585-33722598
23	POLR2A	chr11:33722026-33728243	PANC-1	pancreas:	n/a	n/a
24	NR3C1	chr11:33722333-33723779	A549	lung:	n/a	chr11:33723493-33723507 chr11:33722695-33722712 chr11:33723089-33723103
25	POLR2A	chr11:33722064-33723793	U87	brain:	n/a	n/a
26	FOS	chr11:33722382-33723859	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr11:33722571-33723808	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr11:33721829-33723970	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr11:33722079-33723976	Hela-S3	cervix:	n/a	n/a
30	GATA2	chr11:33722458-33724019	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr11:33721035-33723613	HepG2	liver:	n/a	n/a
32	FOS	chr11:33722416-33723817	MCF10A-Er-Src	breast:	n/a	n/a
33	STAT3	chr11:33722163-33723852	MCF10A-Er-Src	breast:	n/a	chr11:33722703-33722717 chr11:33722411-33722423
34	NR3C1	chr11:33722868-33723747	A549	lung:	n/a	chr11:33723493-33723507 chr11:33723089-33723103
35	E2F4	chr11:33722117-33723347	MCF10A-Er-Src	breast:	n/a	n/a
36	POLR2A	chr11:33721095-33724992	IMR90	lung:	n/a	n/a
37	POLR2A	chr11:33720730-33723214	NB4	blood:	n/a	n/a
38	CHD2	chr11:33722117-33723256	Hela-S3	cervix:	n/a	n/a
39	PBX3	chr11:33722065-33723906	SK-N-SH	brain:	n/a	n/a
40	POLR2A	chr11:33721702-33723922	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr11:33722166-33724517	K562	blood:	n/a	n/a
42	POLR2A	chr11:33720387-33727134	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr11:33722075-33723688	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr11:33720456-33724621	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr11:33722064-33724499	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr11:33722068-33723211	PFSK-1	brain:	n/a	n/a
47	STAT3	chr11:33722167-33723847	MCF10A-Er-Src	breast:	n/a	chr11:33722703-33722717 chr11:33722411-33722423
48	POLR2A	chr11:33721912-33724377	U87	brain:	n/a	n/a
49	MAZ	chr11:33720748-33724556	IMR90	lung:	n/a	chr11:33722471-33722481
50	MYC	chr11:33722049-33723227	NB4	blood:	n/a	chr11:33722471-33722481

No.	Distal block	Cell Line	Cell type
1	chr11:33722591..33725977-chr11:33729219..33731745,3	MCF-7	breast:
2	chr11:33722397..33723935-chr11:33724881..33726688,2	K562	blood:
3	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
4	chr11:33722379..33724106-chr11:33727718..33730003,2	K562	blood:
5	chr11:33722652..33724426-chr11:33725685..33727649,2	MCF-7	breast:
6	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
7	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
8	chr11:33722219..33726232-chr11:33726761..33732163,6	K562	blood:

Variant related genes	Relation type
C11orf91	TF binding region
ENSG00000255202	TF binding region
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1096561	0.90[EUR][1000 genomes]
rs2252927	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7046	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs704697	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs831611	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs831618	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs831625	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs831629	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs831631	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs831633	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs831635	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs861256	0.82[AMR][1000 genomes];0.91[EUR][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
rs831617	CD59	cis	Esophagus Muscularis	GTEx
rs831617	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs831617	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	chr11:33718400-33725800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:33720800-33723600	Enhancers	Spleen	Spleen
3	chr11:33722000-33723400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:33722200-33723800	Flanking Active TSS	HMEC	breast
5	chr11:33722400-33723400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:33722400-33728800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:33722600-33723400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:33722600-33723400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:33722600-33723400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:33722600-33723400	Flanking Active TSS	Brain Germinal Matrix	brain
11	chr11:33722600-33723400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr11:33722600-33723400	Flanking Active TSS	Brain Substantia Nigra	brain
13	chr11:33722600-33723400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr11:33722600-33723400	Flanking Active TSS	NHLF	lung
15	chr11:33722600-33723600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr11:33722600-33723600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr11:33722600-33723600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:33722600-33723600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:33722600-33723600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr11:33722600-33723600	Flanking Active TSS	Fetal Brain Male	brain
21	chr11:33722600-33723600	Flanking Active TSS	HSMMtube	muscle
22	chr11:33722600-33723600	Flanking Active TSS	NH-A	brain
23	chr11:33722600-33723800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr11:33722600-33723800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr11:33722600-33723800	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr11:33722600-33723800	Flanking Active TSS	HUVEC	blood vessel
27	chr11:33722600-33723800	Flanking Active TSS	NHEK	skin
28	chr11:33722800-33723400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:33722800-33723400	Weak transcription	Lung	lung
30	chr11:33722800-33723600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:33722800-33723600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:33722800-33723600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:33722800-33723600	Weak transcription	Esophagus	oesophagus
34	chr11:33722800-33723600	Enhancers	Placenta Amnion	Placenta Amnion
35	chr11:33722800-33723600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr11:33722800-33723600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:33722800-33723600	Flanking Active TSS	Stomach Mucosa	stomach
38	chr11:33722800-33723600	Flanking Active TSS	HepG2	liver
39	chr11:33722800-33723600	Flanking Active TSS	NHDF-Ad	bronchial
40	chr11:33722800-33723600	Flanking Active TSS	Osteobl	bone
41	chr11:33722800-33723800	Flanking Active TSS	Brain Anterior Caudate	brain
42	chr11:33722800-33723800	Enhancers	Pancreas	Pancrea
43	chr11:33722800-33723800	Flanking Active TSS	A549	lung
44	chr11:33722800-33723800	Flanking Active TSS	Hela-S3	cervix
45	chr11:33722800-33724000	Enhancers	Placenta	Placenta
46	chr11:33722800-33725600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr11:33722800-33728600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:33722800-33730600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:33723000-33723400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:33723000-33723400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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