Variant report

Variant	rs831630
Chromosome Location	chr11:33743019-33743020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:33742973-33743366	MCF10A-Er-Src	breast:	n/a	n/a
2	TCF12	chr11:33742798-33743596	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr11:33742787-33743600	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:33743018-33743321	SK-N-SH	brain:	n/a	n/a
5	JUN	chr11:33742830-33743456	HUVEC	blood vessel:	n/a	n/a
6	FOSL2	chr11:33742913-33743488	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr11:33742989-33746434	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr11:33742684-33746704	HUVEC	blood vessel:	n/a	n/a
9	MYC	chr11:33742964-33743245	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:33742963-33743361	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr11:33742664-33746653	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr11:33742717-33743548	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:33742961-33743362	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:33742620-33746516	HUVEC	blood vessel:	n/a	n/a
15	PBX3	chr11:33742805-33743541	SK-N-SH	brain:	n/a	chr11:33743488-33743508
16	POLR2A	chr11:33743013-33745445	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:33742848-33746301	IMR90	lung:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33730057..33732913-chr11:33741218..33744001,2	MCF-7	breast:
2	chr11:33741862..33744483-chr11:33754300..33758090,5	K562	blood:
3	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
4	chr11:33741351..33743266-chr11:33784029..33786297,2	MCF-7	breast:
5	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
6	chr11:33738010..33741280-chr11:33742566..33747348,4	MCF-7	breast:
7	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:

No data

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

Extended variants
information (count: 4 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs704701	0.93[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831612	0.84[CHD][hapmap]
rs831636	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs831630	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs831630	CD59	cis	Artery Tibial	GTEx
rs831630	CD59	cis	lung	GTEx
rs831630	CD59	cis	Esophagus Muscularis	GTEx
rs831630	CD59	cis	lymphoblastoid	seeQTL

Chromatin state (count:125 , 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	chr11:33723200-33744400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr11:33723200-33744400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:33723400-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
8	chr11:33728200-33744000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:33728400-33744600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:33728600-33745000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr11:33729200-33743200	Strong transcription	GM12878-XiMat	blood
12	chr11:33732000-33745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:33732000-33746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:33733400-33744200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:33733800-33744200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr11:33733800-33744600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:33734800-33744800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:33736000-33744000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:33736400-33743400	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr11:33736800-33743600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
21	chr11:33737000-33743200	Strong transcription	Lung	lung
22	chr11:33737000-33744000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:33737000-33744000	Strong transcription	Fetal Intestine Large	intestine
24	chr11:33737000-33745000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:33737200-33743200	Weak transcription	Right Atrium	heart
26	chr11:33737200-33743400	Strong transcription	K562	blood
27	chr11:33737200-33743800	Strong transcription	Liver	Liver
28	chr11:33737400-33743200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:33737400-33743400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:33737400-33743800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:33737400-33743800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr11:33737400-33744000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:33737600-33743600	Weak transcription	Small Intestine	intestine
34	chr11:33737600-33744000	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:33737600-33747000	Genic enhancers	HMEC	breast
36	chr11:33738000-33743800	Strong transcription	Gastric	stomach
37	chr11:33738200-33743200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:33738200-33744400	Strong transcription	Fetal Intestine Small	intestine
39	chr11:33738400-33744400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:33738600-33743200	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr11:33738600-33743200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr11:33738600-33743400	Strong transcription	Esophagus	oesophagus
43	chr11:33738600-33744000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:33738600-33747400	Genic enhancers	NHEK	skin
45	chr11:33738800-33743200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:33738800-33747600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:33739000-33743400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:33739200-33743400	Weak transcription	Stomach Mucosa	stomach
49	chr11:33739800-33743800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr11:33739800-33745000	Genic enhancers	Fetal Muscle Trunk	muscle

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