Variant report

Variant	rs7046
Chromosome Location	chr11:33726980-33726981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:33726873-33727229	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:33725247-33727041	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr11:33725361-33727757	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:33726516-33727023	K562	blood:	n/a	n/a
5	POLR2A	chr11:33724703-33727275	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr11:33724634-33727795	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:33722026-33728243	PANC-1	pancreas:	n/a	n/a
8	POLR2A	chr11:33726933-33727314	K562	blood:	n/a	n/a
9	POLR2A	chr11:33724634-33727281	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:33724885-33727788	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:33726534-33727131	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:33724939-33727198	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:33724744-33729888	K562	blood:	n/a	n/a
14	POLR2A	chr11:33726017-33727000	K562	blood:	n/a	n/a
15	POLR2A	chr11:33725477-33727108	K562	blood:	n/a	n/a
16	POLR2A	chr11:33726952-33727019	K562	blood:	n/a	n/a
17	POLR2A	chr11:33720387-33727134	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr11:33726568-33727191	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:33724737-33729905	A549	lung:	n/a	n/a
20	POLR2A	chr11:33724643-33727840	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr11:33720521-33727789	HUVEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33714211..33716994-chr11:33723846..33727009,3	MCF-7	breast:
2	chr11:33722652..33724426-chr11:33725685..33727649,2	MCF-7	breast:
3	chr11:33726536..33728687-chr11:33732022..33734323,2	K562	blood:
4	chr11:33722219..33726232-chr11:33726761..33732163,6	K562	blood:

No data

Variant related genes	Relation type
C11orf91	TF binding region
ENSG00000205177	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1096561	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2252927	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs704697	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831611	0.86[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs831617	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs831618	0.81[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs831625	0.96[CEU][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.92[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs831629	1.00[CEU][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs831631	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs831633	0.95[CEU][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs831635	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs861256	1.00[CEU][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv975355	chr11:33725252-33729708	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7046	CD59	cis	Artery Tibial	GTEx
rs7046	CD59	cis	lymphoblastoid	seeQTL
rs7046	CD59	cis	parietal	SCAN
rs7046	CD59	cis	Esophagus Muscularis	GTEx
rs7046	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs7046	CD59	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33722400-33728800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:33722800-33728600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:33722800-33730600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:33723000-33730600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:33723000-33746000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:33723200-33728200	Weak transcription	GM12878-XiMat	blood
7	chr11:33723200-33728400	Enhancers	Brain Angular Gyrus	brain
8	chr11:33723200-33728800	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr11:33723200-33729600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:33723200-33730200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:33723200-33730200	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr11:33723200-33730200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr11:33723200-33730400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:33723200-33730600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:33723200-33730600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:33723200-33730600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:33723200-33731000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:33723200-33731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr11:33723200-33737400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:33723200-33744400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:33723200-33744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr11:33723400-33728200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:33723400-33728600	Enhancers	Brain Hippocampus Middle	brain
24	chr11:33723400-33728800	Enhancers	Brain Substantia Nigra	brain
25	chr11:33723400-33729600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:33723400-33730200	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:33723400-33730200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:33723400-33731000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:33723400-33731200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr11:33723400-33735000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:33723400-33741400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:33723400-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
36	chr11:33723600-33727200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:33723600-33730200	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:33723600-33730200	Weak transcription	Fetal Brain Male	brain
39	chr11:33723600-33730600	Weak transcription	Fetal Brain Female	brain
40	chr11:33723800-33728400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:33723800-33730000	Weak transcription	Fetal Kidney	kidney
42	chr11:33723800-33730800	Weak transcription	Fetal Heart	heart
43	chr11:33724000-33728200	Weak transcription	Fetal Thymus	thymus
44	chr11:33724000-33731000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:33724200-33727600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:33724200-33731000	Weak transcription	Brain Germinal Matrix	brain
47	chr11:33724400-33728200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:33724400-33728800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:33724400-33731200	Genic enhancers	NHEK	skin
50	chr11:33724600-33727800	Enhancers	Brain Cingulate Gyrus	brain

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