Variant report

Variant	rs1464487
Chromosome Location	chr11:33792977-33792978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:33792972-33793022	NH-A	brain:	n/a
2	chr11:33792972-33793022	HUVEC	blood vessel:	n/a
3	chr11:33792972-33793022	Hela-S3	cervix:	n/a
4	chr11:33792972-33793022	U87	brain:	n/a
5	chr11:33792972-33793022	HepG2	liver:	n/a
6	chr11:33792972-33793022	GM12878	blood:	n/a
7	chr11:33792972-33793022	AG09319	gingival:	n/a
8	chr11:33792972-33793022	IMR90	lung:	fetal
9	chr11:33792972-33793022	ProgFib	skin:	n/a
10	chr11:33792972-33793022	NB4	blood:	n/a
11	chr11:33792972-33793022	SK-N-SH_RA	brain:	n/a
12	chr11:33792972-33793022	PFSK-1	brain:	n/a
13	chr11:33792972-33793022	PrEC	prostate:	n/a
14	chr11:33792972-33793022	CMK	blood:	n/a
15	chr11:33792972-33793022	HEK293	kidney:	embryo
16	chr11:33792972-33793022	PANC-1	pancreas:	n/a
17	chr11:33792972-33793022	BJ	skin:	n/a
18	chr11:33792972-33793022	GM12892	blood:	n/a
19	chr11:33792972-33793022	HEEpiC	esophagus:	n/a
20	chr11:33792972-33793022	BE2_C	brain:	n/a
21	chr11:33792972-33793022	HCF	heart:	n/a
22	chr11:33792972-33793022	HCT-116	colon:	n/a
23	chr11:33792972-33793022	SKMC	muscle:	n/a
24	chr11:33792972-33793022	LNCaP	prostate:	n/a
25	chr11:33792972-33793022	ovcar-3	ovarian:	n/a
26	chr11:33792972-33793022	HRPEpiC	eye:	n/a
27	chr11:33792972-33793022	HPAEpiC	pulmonary alveolar:	n/a
28	chr11:33792972-33793022	HAEpiC	amniotic membrane:	n/a
29	chr11:33792972-33793022	AoSMC	blood vessel:	n/a
30	chr11:33792972-33793022	SK-N-MC	brain:	n/a
31	chr11:33792972-33793022	GM12891	blood:	n/a
32	chr11:33792972-33793022	AG10803	skin:	n/a
33	chr11:33792972-33793022	NT2-D1	testis:	n/a
34	chr11:33792972-33793022	MCF-7	breast:	n/a
35	chr11:33792972-33793022	H1-hESC	embryonic stem cell:	embryo
36	chr11:33792972-33793022	HCPEpiC	choroid plexus:	n/a
37	chr11:33792972-33793022	T-47D	breast:	n/a
38	chr11:33792972-33793022	AG04449	skin:	fetal
39	chr11:33792972-33793022	Jurkat	blood:	n/a
40	chr11:33792972-33793022	HNPCEpiC	eye:	n/a
41	chr11:33792972-33793022	NHBE	bronchial:	n/a
42	chr11:33792972-33793022	HL-60	blood:	n/a
43	chr11:33792972-33793022	A549	lung:	n/a
44	chr11:33792972-33793022	SK-N-SH	brain:	n/a
45	chr11:33792972-33793022	ECC-1	luminal epithelium:	n/a
46	chr11:33792972-33793022	Caco-2	colon:	n/a
47	chr11:33792972-33793022	GM06990	blood:	n/a
48	chr11:33792972-33793022	RPTEC	kidney:	n/a
49	chr11:33792972-33793022	K562	blood:	n/a
50	chr11:33792972-33793022	HCM	heart:	n/a

No data

Variant related genes	Relation type
ENSG00000254508	CpG island
ENSG00000255272	CpG island

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10836108	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1096558	0.85[ASN][1000 genomes]
rs1096559	0.85[ASN][1000 genomes]
rs1096563	0.85[ASN][1000 genomes]
rs11032363	0.87[EUR][1000 genomes]
rs11032366	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11032374	0.90[EUR][1000 genomes]
rs1112840	0.89[EUR][1000 genomes]
rs12146621	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12282096	0.85[AMR][1000 genomes]
rs1402953	0.87[EUR][1000 genomes]
rs1402957	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1464484	0.86[AMR][1000 genomes]
rs1464486	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522087	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1578986	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1738547	0.85[ASN][1000 genomes]
rs1738548	0.93[ASN][1000 genomes]
rs2056396	0.83[AMR][1000 genomes]
rs2140066	0.85[AMR][1000 genomes]
rs2272065	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2901376	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3181274	0.87[EUR][1000 genomes]
rs34944910	0.89[EUR][1000 genomes]
rs35162575	0.89[EUR][1000 genomes]
rs704702	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs704703	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7125621	0.83[AMR][1000 genomes]
rs7927218	0.85[AMR][1000 genomes]
rs831594	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831596	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831603	0.88[ASN][1000 genomes]
rs953871	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1464487	CD59	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33758800-33795000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:33759000-33795200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:33765400-33793800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:33769600-33795000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:33778800-33794600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:33779600-33795000	Weak transcription	Colonic Mucosa	Colon
7	chr11:33782200-33793400	Weak transcription	Right Ventricle	heart
8	chr11:33786200-33793200	Weak transcription	K562	blood
9	chr11:33786200-33793400	Weak transcription	A549	lung
10	chr11:33786200-33793600	Weak transcription	Fetal Heart	heart
11	chr11:33786200-33793600	Weak transcription	Small Intestine	intestine
12	chr11:33786600-33794000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr11:33787600-33794400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:33787600-33795000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:33787800-33794000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:33787800-33794200	Weak transcription	Fetal Intestine Small	intestine
17	chr11:33788000-33793600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr11:33788000-33794000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:33788000-33794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:33788000-33794800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:33788200-33794400	Weak transcription	Fetal Brain Male	brain
22	chr11:33788400-33793200	Weak transcription	Brain Angular Gyrus	brain
23	chr11:33788400-33793400	Weak transcription	Pancreas	Pancrea
24	chr11:33788400-33793600	Weak transcription	Stomach Mucosa	stomach
25	chr11:33788400-33793600	Weak transcription	Spleen	Spleen
26	chr11:33788400-33794000	Weak transcription	Esophagus	oesophagus
27	chr11:33788400-33794000	Weak transcription	Gastric	stomach
28	chr11:33788600-33794000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:33788600-33794200	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:33788800-33794800	Weak transcription	HSMMtube	muscle
31	chr11:33789200-33793400	Weak transcription	Psoas Muscle	Psoas
32	chr11:33789200-33794400	Weak transcription	Fetal Stomach	stomach
33	chr11:33789400-33793200	Weak transcription	Brain Germinal Matrix	brain
34	chr11:33789400-33794000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:33789600-33793200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:33789600-33794800	Weak transcription	HUVEC	blood vessel
37	chr11:33789800-33793600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:33790200-33794200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr11:33790400-33793400	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:33790400-33793400	Weak transcription	NH-A	brain
41	chr11:33790400-33794000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:33790400-33794000	Weak transcription	Fetal Brain Female	brain
43	chr11:33790400-33794000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:33790400-33794200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr11:33790400-33794800	Weak transcription	Primary hematopoietic stem cells	blood
46	chr11:33790400-33795000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:33790600-33793000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr11:33790600-33793400	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:33790600-33794000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:33790600-33794000	Weak transcription	Left Ventricle	heart

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