Variant report

Variant	rs831625
Chromosome Location	chr11:33746436-33746437
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:33745479-33746457	Hela-S3	cervix:	n/a	n/a
2	RFX5	chr11:33745542-33746647	IMR90	lung:	n/a	n/a
3	SPI1	chr11:33746217-33746667	HL-60	blood:	n/a	n/a
4	POLR2A	chr11:33745661-33746461	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr11:33742684-33746704	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:33742664-33746653	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr11:33742620-33746516	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr11:33746196-33746525	HUVEC	blood vessel:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:33746426-33746476	HPAEpiC	pulmonary alveolar:	n/a
2	chr11:33746426-33746476	HCF	heart:	n/a
3	chr11:33746426-33746476	AG04449	skin:	fetal
4	chr11:33746426-33746476	BE2_C	brain:	n/a
5	chr11:33746426-33746476	GM12878	blood:	n/a
6	chr11:33746426-33746476	PrEC	prostate:	n/a
7	chr11:33746426-33746476	HepG2	liver:	n/a
8	chr11:33746426-33746476	GM19239	blood:	n/a
9	chr11:33746426-33746476	HEK293	kidney:	embryo
10	chr11:33746426-33746476	HEEpiC	esophagus:	n/a
11	chr11:33746426-33746476	ovcar-3	ovarian:	n/a
12	chr11:33746426-33746476	NT2-D1	testis:	n/a
13	chr11:33746426-33746476	HRCEpiC	kidney:	n/a
14	chr11:33746426-33746476	Jurkat	blood:	n/a
15	chr11:33746426-33746476	SAEC	small airway:	n/a
16	chr11:33746426-33746476	PANC-1	pancreas:	n/a
17	chr11:33746426-33746476	SK-N-SH_RA	brain:	n/a
18	chr11:33746426-33746476	SK-N-SH	brain:	n/a
19	chr11:33746426-33746476	MCF10A-Er-Src	breast:	n/a
20	chr11:33746426-33746476	AG09319	gingival:	n/a
21	chr11:33746426-33746476	HCPEpiC	choroid plexus:	n/a
22	chr11:33746426-33746476	SKMC	muscle:	n/a
23	chr11:33746426-33746476	HL-60	blood:	n/a
24	chr11:33746426-33746476	AoSMC	blood vessel:	n/a
25	chr11:33746426-33746476	AG10803	skin:	n/a
26	chr11:33746426-33746476	LNCaP	prostate:	n/a
27	chr11:33746426-33746476	HNPCEpiC	eye:	n/a
28	chr11:33746426-33746476	Hepatocyte	liver:	n/a
29	chr11:33746426-33746476	CMK	blood:	n/a
30	chr11:33746426-33746476	HUVEC	blood vessel:	n/a
31	chr11:33746426-33746476	BJ	skin:	n/a
32	chr11:33746426-33746476	SK-N-MC	brain:	n/a
33	chr11:33746426-33746476	Hela-S3	cervix:	n/a
34	chr11:33746426-33746476	HCT-116	colon:	n/a
35	chr11:33746426-33746476	HMEC	breast:	n/a
36	chr11:33746426-33746476	GM12892	blood:	n/a
37	chr11:33746426-33746476	HRPEpiC	eye:	n/a
38	chr11:33746426-33746476	HCM	heart:	n/a
39	chr11:33746426-33746476	IMR90	lung:	fetal
40	chr11:33746426-33746476	NHBE	bronchial:	n/a
41	chr11:33746426-33746476	NHDF-neo	bronchial:	n/a
42	chr11:33746426-33746476	GM06990	blood:	n/a
43	chr11:33746426-33746476	AG04450	lung:	fetal
44	chr11:33746426-33746476	RPTEC	kidney:	n/a
45	chr11:33746426-33746476	H1-hESC	embryonic stem cell:	embryo
46	chr11:33746426-33746476	NH-A	brain:	n/a
47	chr11:33746426-33746476	ECC-1	luminal epithelium:	n/a
48	chr11:33746426-33746476	HAEpiC	amniotic membrane:	n/a
49	chr11:33746426-33746476	AG09309	skin:	n/a
50	chr11:33746426-33746476	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:33735999..33748184-chr11:33752891..33760863,45	MCF-7	breast:
2	chr11:33737769..33742301-chr11:33743570..33746479,4	K562	blood:
3	chr11:33729551..33732086-chr11:33743744..33746634,3	K562	blood:
4	chr11:33740386..33747828-chr11:33750725..33760528,16	K562	blood:
5	chr11:33738010..33741280-chr11:33742566..33747348,4	MCF-7	breast:
6	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:
7	chr11:33745841..33747448-chr11:33762881..33764891,2	K562	blood:

No data

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

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

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

rs_ID	r²[population]
rs1096561	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11032363	1.00[YRI][hapmap]
rs11032372	0.87[ASN][1000 genomes]
rs11032380	1.00[YRI][hapmap]
rs12224154	1.00[ASW][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.80[MEX][hapmap];0.88[ASN][1000 genomes]
rs12420267	1.00[YRI][hapmap]
rs1402953	1.00[YRI][hapmap]
rs17761158	1.00[YRI][hapmap]
rs2252927	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3181274	1.00[YRI][hapmap]
rs4755340	1.00[YRI][hapmap]
rs7046	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]
rs704697	0.86[CHD][hapmap];0.82[TSI][hapmap]
rs831611	1.00[ASW][hapmap];0.83[CEU][hapmap];0.85[CHD][hapmap];0.84[GIH][hapmap];0.92[MEX][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes]
rs831617	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs831618	0.83[CHD][hapmap];0.80[TSI][hapmap]
rs831629	0.96[CEU][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs831631	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs831633	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs831635	0.96[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs861256	0.96[CEU][hapmap];0.93[GIH][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.98[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	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
rs831625	CD59	cis	Esophagus Muscularis	GTEx
rs831625	CD59	cis	cerebellum	SCAN
rs831625	CD59	cis	Artery Tibial	GTEx
rs831625	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs831625	CD59	cis	parietal	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:33737600-33747000	Genic enhancers	HMEC	breast
3	chr11:33738600-33747400	Genic enhancers	NHEK	skin
4	chr11:33738800-33747600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr11:33740000-33747200	Genic enhancers	HSMM	muscle
6	chr11:33741000-33752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr11:33741200-33746600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:33742200-33746600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:33743200-33747200	Enhancers	Right Atrium	heart
10	chr11:33743400-33746600	Genic enhancers	Esophagus	oesophagus
11	chr11:33743400-33746600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr11:33743400-33746800	Enhancers	Stomach Mucosa	stomach
13	chr11:33743600-33747200	Enhancers	Brain Hippocampus Middle	brain
14	chr11:33743800-33747200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:33743800-33747600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:33744000-33746800	Enhancers	Left Ventricle	heart
17	chr11:33744000-33747200	Enhancers	Brain Substantia Nigra	brain
18	chr11:33744000-33747200	Enhancers	Fetal Heart	heart
19	chr11:33744000-33755400	Weak transcription	Brain Germinal Matrix	brain
20	chr11:33744000-33755800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr11:33744000-33756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr11:33744200-33746600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:33744200-33746600	Enhancers	Fetal Muscle Leg	muscle
24	chr11:33744200-33746600	Enhancers	Psoas Muscle	Psoas
25	chr11:33744200-33747000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr11:33744200-33747200	Enhancers	Brain Cingulate Gyrus	brain
27	chr11:33744200-33747200	Enhancers	Placenta	Placenta
28	chr11:33744200-33749600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:33744200-33755600	Weak transcription	Fetal Brain Female	brain
30	chr11:33744400-33746600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:33744400-33746600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:33744400-33746800	Enhancers	HepG2	liver
33	chr11:33744400-33747200	Enhancers	Primary hematopoietic stem cells	blood
34	chr11:33744400-33747200	Enhancers	Brain Anterior Caudate	brain
35	chr11:33744400-33747200	Enhancers	Right Ventricle	heart
36	chr11:33744400-33747400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:33744400-33756200	Weak transcription	Primary T cells from cord blood	blood
38	chr11:33744600-33746600	Enhancers	Fetal Kidney	kidney
39	chr11:33744600-33746600	Enhancers	Ovary	ovary
40	chr11:33744600-33746600	Enhancers	HSMMtube	muscle
41	chr11:33744600-33746800	Enhancers	HUVEC	blood vessel
42	chr11:33744600-33747000	Enhancers	Fetal Lung	lung
43	chr11:33744600-33747800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr11:33744600-33755400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr11:33744800-33746600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:33744800-33747000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:33744800-33747200	Enhancers	NH-A	brain
48	chr11:33744800-33753600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr11:33744800-33754600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:33745000-33746600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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