Variant report

Variant	rs831603
Chromosome Location	chr11:33758638-33758639
allele	A/G
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	TFAP2A	chr11:33757624-33759014	Hela-S3	cervix:	n/a	chr11:33757640-33757652 chr11:33758011-33758023 chr11:33758673-33758687 chr11:33757640-33757652 chr11:33757640-33757652 chr11:33758351-33758362 chr11:33758673-33758687 chr11:33757640-33757654 chr11:33758012-33758023 chr11:33758347-33758362 chr11:33758351-33758362 chr11:33758351-33758362 chr11:33758351-33758362 chr11:33757640-33757654
2	E2F6	chr11:33758570-33758743	K562	blood:	n/a	n/a
3	MAZ	chr11:33757253-33759530	IMR90	lung:	n/a	chr11:33757825-33757835
4	E2F6	chr11:33757668-33758651	A549	lung:	n/a	chr11:33757690-33757704
5	MAX	chr11:33757695-33758656	SK-N-SH	brain:	n/a	chr11:33757825-33757835
6	TEAD4	chr11:33757409-33759628	K562	blood:	n/a	n/a
7	POLR2A	chr11:33757534-33759812	PBDE	blood:	n/a	n/a
8	POLR2A	chr11:33757373-33758827	U87	brain:	n/a	n/a
9	POLR2A	chr11:33758411-33758727	K562	blood:	n/a	n/a
10	GATA1	chr11:33757516-33759858	PBDE	blood:	n/a	chr11:33759815-33759825
11	TEAD4	chr11:33758595-33759581	K562	blood:	n/a	n/a
12	POLR2A	chr11:33757529-33759454	K562	blood:	n/a	n/a
13	ZKSCAN1	chr11:33757765-33759036	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr11:33757727-33759197	K562	blood:	n/a	n/a
15	MXI1	chr11:33756284-33758784	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr11:33758560-33758710	HepG2	liver:	n/a	chr11:33758603-33758612
17	GATA1	chr11:33757572-33759865	K562	blood:	n/a	chr11:33759815-33759825
18	POLR2A	chr11:33755157-33758957	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr11:33758274-33759534	K562	blood:	n/a	n/a
20	POLR2A	chr11:33757641-33758652	U87	brain:	n/a	n/a
21	MYC	chr11:33757386-33759587	K562	blood:	n/a	chr11:33757825-33757835
22	CHD2	chr11:33757456-33758902	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr11:33756708-33758959	Hela-S3	cervix:	n/a	n/a
24	EGR1	chr11:33757484-33758687	HCT-116	colon:	n/a	chr11:33757969-33757991 chr11:33757974-33757987 chr11:33757971-33757985 chr11:33758109-33758122 chr11:33757974-33757987 chr11:33758110-33758119 chr11:33757835-33757845
25	MXI1	chr11:33755920-33759639	IMR90	lung:	n/a	n/a
26	TAF1	chr11:33757643-33758749	Hela-S3	cervix:	n/a	n/a
27	TBL1XR1	chr11:33757897-33759541	K562	blood:	n/a	n/a
28	UBTF	chr11:33757413-33759483	K562	blood:	n/a	n/a
29	POLR2A	chr11:33755260-33759001	PANC-1	pancreas:	n/a	n/a
30	RAD21	chr11:33757979-33759059	Hela-S3	cervix:	n/a	chr11:33758602-33758616
31	NRF1	chr11:33757356-33758644	SK-N-SH	brain:	n/a	chr11:33758070-33758081
32	MAZ	chr11:33757445-33759498	K562	blood:	n/a	chr11:33757825-33757835
33	CTCF	chr11:33758500-33758650	Hela-S3	cervix:	n/a	chr11:33758603-33758612
34	TCF7L2	chr11:33757929-33758895	Hela-S3	cervix:	n/a	n/a
35	SMC3	chr11:33757387-33759088	Hela-S3	cervix:	n/a	chr11:33758602-33758609 chr11:33758602-33758616
36	MAX	chr11:33756843-33758776	Hela-S3	cervix:	n/a	chr11:33757825-33757835
37	POLR2A	chr11:33758443-33759175	K562	blood:	n/a	n/a
38	TFAP2C	chr11:33757521-33759000	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:33757561-33759417	K562	blood:	n/a	n/a
40	HCFC1	chr11:33758407-33759078	K562	blood:	n/a	n/a
41	SMARCB1	chr11:33756653-33758798	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:33757467-33759500	K562	blood:	n/a	n/a
43	POLR2A	chr11:33755220-33758759	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr11:33755219-33758968	HUVEC	blood vessel:	n/a	n/a
45	MAX	chr11:33757313-33758698	A549	lung:	n/a	chr11:33757825-33757835
46	MAX	chr11:33758634-33759472	K562	blood:	n/a	n/a
47	POLR2A	chr11:33755560-33759120	Hela-S3	cervix:	n/a	n/a
48	MAX	chr11:33758320-33759519	K562	blood:	n/a	n/a
49	POLR2A	chr11:33757746-33759390	K562	blood:	n/a	n/a
50	POLR2A	chr11:33757552-33759554	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:33181954..33184910-chr11:33755905..33758961,3	K562	blood:
2	chr11:33719802..33725980-chr11:33755197..33760109,10	MCF-7	breast:
3	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
4	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:
5	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:
6	chr11:33719762..33724651-chr11:33756445..33759986,5	K562	blood:
7	chr11:33720026..33726393-chr11:33756116..33759860,12	MCF-7	breast:
8	chr11:33758345..33758882-chr17:6916933..6917456,2	Hela-S3	cervix:
9	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
10	chr11:33757743..33759681-chr11:33794774..33797554,2	MCF-7	breast:
11	chr11:33758430..33760609-chr11:33786708..33788444,2	K562	blood:
12	chr11:33756868..33759532-chr11:33768759..33770986,2	MCF-7	breast:
13	chr11:33757852..33758677-chr15:65596828..65597702,2	Hela-S3	cervix:
14	chr11:33757917..33758851-chr20:33680266..33680784,2	Hela-S3	cervix:
15	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:

Variant related genes	Relation type
CD59	TF binding region
ENSG00000085063	Chromatin interaction
ENSG00000110429	Chromatin interaction
ENSG00000176102	Chromatin interaction
ENSG00000100991	Chromatin interaction
ENSG00000254508	Chromatin interaction
ENSG00000247151	Chromatin interaction
ENSG00000255272	Chromatin interaction
ENSG00000205177	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000161939	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10836108	0.89[ASN][1000 genomes]
rs1096558	0.97[ASN][1000 genomes]
rs1096559	0.97[ASN][1000 genomes]
rs1096563	0.97[ASN][1000 genomes]
rs11032366	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12146621	0.88[ASN][1000 genomes]
rs1464486	0.88[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs1464487	0.88[ASN][1000 genomes]
rs1522087	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1578986	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1718067	0.80[AMR][1000 genomes]
rs1738547	0.97[ASN][1000 genomes]
rs1738548	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2272065	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2686245	0.80[AMR][1000 genomes]
rs2901376	0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs704702	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs704703	0.89[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs831594	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs831596	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs953871	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.88[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs831603	CD59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33756800-33759000	Active TSS	Brain Substantia Nigra	brain
2	chr11:33757000-33758800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr11:33757000-33758800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:33757800-33759000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:33757800-33764600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:33758000-33758800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:33758000-33758800	Flanking Active TSS	Placenta	Placenta
8	chr11:33758000-33758800	Weak transcription	Small Intestine	intestine
9	chr11:33758000-33758800	Flanking Active TSS	HSMMtube	muscle
10	chr11:33758000-33759000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr11:33758000-33759000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr11:33758000-33759000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:33758000-33759000	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr11:33758000-33759400	Flanking Active TSS	NHEK	skin
15	chr11:33758000-33760400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr11:33758000-33764400	Weak transcription	Spleen	Spleen
17	chr11:33758000-33770200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr11:33758200-33758800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:33758200-33758800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr11:33758200-33758800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr11:33758200-33758800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:33758200-33758800	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr11:33758200-33758800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr11:33758200-33758800	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr11:33758200-33758800	Flanking Active TSS	Fetal Muscle Trunk	muscle
26	chr11:33758200-33758800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr11:33758200-33758800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr11:33758200-33758800	Bivalent Enhancer	Dnd41	blood
29	chr11:33758200-33758800	Flanking Active TSS	Osteobl	bone
30	chr11:33758200-33759000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:33758200-33759000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:33758200-33759000	Enhancers	Primary hematopoietic stem cells	blood
33	chr11:33758200-33759000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:33758200-33759000	Enhancers	Lung	lung
35	chr11:33758200-33759000	Flanking Active TSS	NH-A	brain
36	chr11:33758200-33759200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr11:33758200-33759200	Flanking Active TSS	HMEC	breast
38	chr11:33758200-33759200	Flanking Active TSS	HUVEC	blood vessel
39	chr11:33758200-33764400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:33758200-33764400	Weak transcription	Gastric	stomach
41	chr11:33758200-33766400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr11:33758400-33758800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:33758400-33758800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr11:33758400-33758800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:33758400-33758800	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr11:33758400-33758800	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr11:33758400-33758800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr11:33758400-33758800	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr11:33758400-33758800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr11:33758400-33758800	Flanking Active TSS	Fetal Brain Male	brain

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