Variant report

Variant	rs17767323
Chromosome Location	chr11:33795545-33795546
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	ZBTB7A	chr11:33795363-33796403	K562	blood:	n/a	n/a
2	MAX	chr11:33795401-33795867	A549	lung:	n/a	n/a
3	MXI1	chr11:33794764-33797035	SK-N-SH	brain:	n/a	chr11:33795490-33795499
4	HCFC1	chr11:33794953-33797412	Hela-S3	cervix:	n/a	n/a
5	HMGN3	chr11:33795457-33796603	K562	blood:	n/a	n/a
6	YY1	chr11:33795395-33796170	A549	lung:	n/a	chr11:33796033-33796053
7	ELF1	chr11:33795295-33796056	GM12878	blood:	n/a	chr11:33795314-33795327 chr11:33795627-33795639
8	POLR2A	chr11:33795378-33796439	GM18505	blood:	n/a	n/a
9	REST	chr11:33795347-33796672	H1-neurons	neurons:	n/a	chr11:33795620-33795633 chr11:33795727-33795740
10	YY1	chr11:33795334-33796155	GM12891	blood:	n/a	chr11:33796033-33796053
11	YY1	chr11:33795345-33796467	HepG2	liver:	n/a	chr11:33796033-33796053
12	YY1	chr11:33794957-33796345	GM12878	blood:	n/a	chr11:33796033-33796053
13	YY1	chr11:33795449-33796216	H1-hESC	embryonic stem cell:	n/a	chr11:33796033-33796053
14	MAX	chr11:33794828-33796614	A549	lung:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
15	CCNT2	chr11:33795454-33796326	K562	blood:	n/a	chr11:33795863-33795872 chr11:33795908-33795917
16	MAX	chr11:33795447-33796442	H1-hESC	embryonic stem cell:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
17	MAX	chr11:33795015-33795646	K562	blood:	n/a	n/a
18	ZBTB7A	chr11:33795264-33796461	ECC-1	luminal epithelium:	n/a	n/a
19	MAZ	chr11:33794961-33796438	GM12878	blood:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
20	MAZ	chr11:33795518-33796484	HepG2	liver:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
21	MTA3	chr11:33795371-33796151	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:33795386-33796486	H1-neurons	neurons:	n/a	n/a
23	MAX	chr11:33795410-33795895	ECC-1	luminal epithelium:	n/a	chr11:33795877-33795887
24	YY1	chr11:33795506-33796273	H1-hESC	embryonic stem cell:	n/a	chr11:33796033-33796053
25	YY1	chr11:33794978-33796333	GM12892	blood:	n/a	chr11:33796033-33796053
26	TAF1	chr11:33795480-33796528	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr11:33795502-33796392	K562	blood:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
28	POLR2A	chr11:33795480-33796195	K562	blood:	n/a	n/a
29	UBTF	chr11:33795339-33796305	K562	blood:	n/a	n/a
30	BHLHE40	chr11:33795500-33795727	K562	blood:	n/a	chr11:33795595-33795611
31	MAX	chr11:33795342-33796329	K562	blood:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
32	GATA1	chr11:33794047-33795711	PBDE	blood:	n/a	chr11:33794371-33794392 chr11:33795221-33795233 chr11:33795219-33795235 chr11:33795223-33795232 chr11:33794534-33794544 chr11:33795221-33795234 chr11:33794367-33794384
33	MXI1	chr11:33794381-33795885	IMR90	lung:	n/a	chr11:33795490-33795499
34	SIN3A	chr11:33794966-33796691	H1-hESC	embryonic stem cell:	n/a	chr11:33795634-33795645 chr11:33796151-33796164 chr11:33795551-33795564
35	POLR2A	chr11:33795528-33795565	MCF-7	breast:	n/a	n/a
36	SIN3AK20	chr11:33794950-33796424	PANC-1	pancreas:	n/a	n/a
37	YY1	chr11:33795397-33796256	K562	blood:	n/a	chr11:33796033-33796053
38	ZEB1	chr11:33795454-33795826	GM12878	blood:	n/a	n/a
39	MAZ	chr11:33794894-33796593	IMR90	lung:	n/a	chr11:33796160-33796170 chr11:33795877-33795887
40	YY1	chr11:33795298-33796425	SK-N-SH	brain:	n/a	chr11:33796033-33796053
41	CHD2	chr11:33795223-33795615	K562	blood:	n/a	n/a
42	ZBTB7A	chr11:33795299-33796402	ECC-1	luminal epithelium:	n/a	n/a
43	MXI1	chr11:33794861-33796611	GM12878	blood:	n/a	chr11:33795490-33795499
44	MXI1	chr11:33794930-33796588	HepG2	liver:	n/a	chr11:33795490-33795499
45	GABPA	chr11:33795416-33796004	K562	blood:	n/a	n/a
46	E2F6	chr11:33795483-33795838	K562	blood:	n/a	chr11:33795518-33795528 chr11:33795608-33795618 chr11:33795761-33795773
47	SMARCB1	chr11:33795260-33796627	Hela-S3	cervix:	n/a	n/a
48	ELF1	chr11:33795076-33795545	K562	blood:	n/a	chr11:33795314-33795327
49	YY1	chr11:33795535-33796249	SK-N-SH	brain:	n/a	chr11:33796033-33796053
50	YY1	chr11:33794955-33796206	GM12878	blood:	n/a	chr11:33796033-33796053

No.	Distal block	Cell Line	Cell type
1	chr11:33757743..33759681-chr11:33794774..33797554,2	MCF-7	breast:
2	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:
3	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:
4	chr11:33720701..33723094-chr11:33794886..33797220,2	MCF-7	breast:

Variant related genes	Relation type
FBXO3	TF binding region
ENSG00000255272	TF binding region
ENSG00000254508	TF binding region
ENSG00000205177	Chromatin interaction
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10768030	0.84[CEU][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11032377	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11032385	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11599935	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11601836	0.85[EUR][1000 genomes]
rs11607434	0.88[CEU][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11607549	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11608235	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12419271	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12421529	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1522086	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17760694	0.94[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2273121	0.81[CEU][hapmap];0.84[AMR][1000 genomes]
rs3181268	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55933775	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56026019	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60691031	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61887477	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7930105	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7941387	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7943459	0.92[AMR][1000 genomes];0.94[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	nsv523356	chr11:33777334-33797408	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17767323	CD59	cis	Artery Tibial	GTEx
rs17767323	CD59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33794400-33795600	Flanking Active TSS	Dnd41	blood
2	chr11:33794400-33795600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr11:33794400-33795800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:33794600-33795600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:33794600-33796600	Active TSS	A549	lung
6	chr11:33794600-33796800	Active TSS	Rectal Smooth Muscle	rectum
7	chr11:33794800-33795600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr11:33794800-33795600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:33794800-33795600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:33794800-33795600	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:33794800-33795800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr11:33794800-33795800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr11:33794800-33796600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:33794800-33796800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr11:33795000-33795600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:33795000-33795600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:33795000-33795600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
18	chr11:33795000-33795600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:33795000-33795600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:33795000-33795600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
21	chr11:33795000-33795600	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr11:33795000-33795600	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr11:33795000-33795600	Flanking Active TSS	HUVEC	blood vessel
24	chr11:33795000-33795600	Flanking Active TSS	Osteobl	bone
25	chr11:33795000-33795800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr11:33795000-33796400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:33795000-33796400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:33795000-33796400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:33795000-33796400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr11:33795000-33796600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr11:33795000-33796600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr11:33795000-33796600	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:33795000-33796600	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr11:33795000-33796600	Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr11:33795000-33796600	Active TSS	Brain Angular Gyrus	brain
36	chr11:33795000-33796600	Active TSS	Gastric	stomach
37	chr11:33795000-33796600	Active TSS	Placenta Amnion	Placenta Amnion
38	chr11:33795000-33796800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:33795000-33796800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:33795000-33796800	Active TSS	Right Atrium	heart
41	chr11:33795000-33797000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:33795000-33797000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr11:33795000-33797000	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr11:33795000-33797000	Active TSS	Ovary	ovary
45	chr11:33795000-33797200	Active TSS	Aorta	Aorta
46	chr11:33795200-33795600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:33795200-33796200	Active TSS	Fetal Intestine Large	intestine
48	chr11:33795200-33796200	Active TSS	Fetal Intestine Small	intestine
49	chr11:33795200-33796400	Active TSS	H1 Cell Line	embryonic stem cell
50	chr11:33795200-33796400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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