Variant report

Variant	rs831629
Chromosome Location	chr11:33744664-33744665
allele	C/T
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	BCL3	chr11:33744606-33745301	A549	lung:	n/a	n/a
2	GATA3	chr11:33744480-33745349	MCF-7	breast:	n/a	n/a
3	FOS	chr11:33744082-33745201	Hela-S3	cervix:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
4	SP1	chr11:33744276-33745340	A549	lung:	n/a	chr11:33744325-33744334
5	GATA3	chr11:33743989-33745317	MCF-7	breast:	n/a	chr11:33744249-33744258
6	MAFK	chr11:33744118-33745304	Hela-S3	cervix:	n/a	chr11:33744967-33744978 chr11:33744966-33744981 chr11:33744966-33744977 chr11:33744966-33744977 chr11:33744965-33744979 chr11:33744966-33744982
7	STAT5A	chr11:33744605-33745246	K562	blood:	n/a	chr11:33745002-33745011 chr11:33745001-33745010 chr11:33744963-33744971 chr11:33744999-33745013 chr11:33744850-33744859
8	FOS	chr11:33744077-33745318	MCF10A-Er-Src	breast:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
9	TBP	chr11:33744207-33745194	Hela-S3	cervix:	n/a	chr11:33745106-33745117
10	POLR2A	chr11:33743891-33745384	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:33744131-33745115	HUVEC	blood vessel:	n/a	n/a
12	SIN3AK20	chr11:33744166-33745383	MCF-7	breast:	n/a	n/a
13	JUN	chr11:33743384-33746124	K562	blood:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33743823-33743837 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
14	MAFK	chr11:33744171-33745201	K562	blood:	n/a	chr11:33744967-33744978 chr11:33744966-33744981 chr11:33744966-33744977 chr11:33744966-33744977 chr11:33744965-33744979 chr11:33744966-33744982
15	SMC3	chr11:33744120-33745321	Hela-S3	cervix:	n/a	n/a
16	MTA3	chr11:33744070-33744713	GM12878	blood:	n/a	n/a
17	NR3C1	chr11:33744649-33745263	A549	lung:	n/a	n/a
18	YY1	chr11:33744612-33745163	A549	lung:	n/a	n/a
19	RCOR1	chr11:33744061-33745362	K562	blood:	n/a	n/a
20	STAT3	chr11:33744581-33744752	GM12878	blood:	n/a	n/a
21	STAT3	chr11:33744084-33745504	MCF10A-Er-Src	breast:	n/a	chr11:33745002-33745011 chr11:33745001-33745010 chr11:33744963-33744971 chr11:33744999-33745013 chr11:33744850-33744859
22	PBX3	chr11:33744577-33745331	SK-N-SH	brain:	n/a	n/a
23	SMARCC1	chr11:33743576-33745488	Hela-S3	cervix:	n/a	chr11:33744849-33744858 chr11:33744850-33744859
24	NR2F2	chr11:33744068-33745473	K562	blood:	n/a	n/a
25	STAT3	chr11:33744158-33745360	MCF10A-Er-Src	breast:	n/a	chr11:33745002-33745011 chr11:33745001-33745010 chr11:33744963-33744971 chr11:33744999-33745013 chr11:33744850-33744859
26	JUN	chr11:33744196-33745189	K562	blood:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
27	ATF3	chr11:33744583-33745194	A549	lung:	n/a	n/a
28	GTF2F1	chr11:33744072-33745309	Hela-S3	cervix:	n/a	chr11:33745106-33745117
29	TEAD4	chr11:33744610-33745262	A549	lung:	n/a	n/a
30	RCOR1	chr11:33744189-33745279	K562	blood:	n/a	n/a
31	CEBPB	chr11:33744346-33744697	K562	blood:	n/a	n/a
32	EBF1	chr11:33743997-33745421	GM12878	blood:	n/a	chr11:33744888-33744897 chr11:33744888-33744897 chr11:33744886-33744899 chr11:33744888-33744898
33	GATA3	chr11:33743876-33745488	A549	lung:	n/a	chr11:33744249-33744258
34	CEBPB	chr11:33744192-33744771	K562	blood:	n/a	n/a
35	STAT3	chr11:33744656-33745234	MCF10A-Er-Src	breast:	n/a	chr11:33745002-33745011 chr11:33745001-33745010 chr11:33744963-33744971 chr11:33744999-33745013 chr11:33744850-33744859
36	TCF12	chr11:33744002-33745334	SK-N-SH	brain:	n/a	n/a
37	TCF12	chr11:33744132-33745323	SK-N-SH	brain:	n/a	n/a
38	FOSL2	chr11:33744649-33745237	MCF-7	breast:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
39	JUND	chr11:33744653-33745263	A549	lung:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
40	FOSL1	chr11:33744597-33745197	K562	blood:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
41	GATA3	chr11:33744095-33745101	T-47D	breast:	n/a	chr11:33744249-33744258
42	JUND	chr11:33744097-33745218	Hela-S3	cervix:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
43	POLR2A	chr11:33744018-33745419	U87	brain:	n/a	n/a
44	NR3C1	chr11:33744645-33745262	A549	lung:	n/a	n/a
45	FOS	chr11:33744140-33745124	K562	blood:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
46	JUN	chr11:33744106-33745204	K562	blood:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
47	STAT5A	chr11:33744465-33745204	K562	blood:	n/a	chr11:33745002-33745011 chr11:33745001-33745010 chr11:33744963-33744971 chr11:33744999-33745013 chr11:33744850-33744859
48	RCOR1	chr11:33744508-33744674	GM12878	blood:	n/a	n/a
49	TEAD4	chr11:33744049-33745478	K562	blood:	n/a	n/a
50	FOS	chr11:33744100-33745307	MCF10A-Er-Src	breast:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859

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:

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

Extended variants
information (count: 22 )
Associated
traits (count: 9 )

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

rs_ID	r²[population]
rs1096561	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1112841	0.83[ASW][hapmap];0.86[CHB][hapmap]
rs12806824	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs1522085	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs1718067	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs2252927	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2272064	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs2746602	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs4348870	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs7046	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]
rs704697	0.81[CEU][hapmap];0.86[CHD][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs831592	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs831595	0.86[CHB][hapmap];0.80[JPT][hapmap]
rs831611	0.84[GIH][hapmap];0.92[MEX][hapmap];0.80[EUR][1000 genomes]
rs831617	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs831618	0.81[CEU][hapmap];0.83[CHD][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs831625	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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831633	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs831635	1.00[CEU][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs861256	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.95[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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs831629	CD59	cis	lymphoblastoid	seeQTL
rs831629	CD59	cis	Artery Tibial	GTEx
rs831629	CD59	cis	cerebellum	SCAN
rs831629	CD59	Cis_1M	lymphoblastoid	RTeQTL
rs831629	ENST00000278205	cis	multi-tissue	Pritchard
rs831629	CD59	cis	Liver	GTEx
rs831629	CD59	cis	Esophagus Muscularis	GTEx
rs831629	CD59	cis	multi-tissue	Pritchard
rs831629	CD59	cis	parietal	SCAN

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	chr11:33723400-33745000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
6	chr11:33728600-33745000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:33732000-33745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr11:33732000-33746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr11:33734800-33744800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:33737000-33745000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:33737600-33747000	Genic enhancers	HMEC	breast
12	chr11:33738600-33747400	Genic enhancers	NHEK	skin
13	chr11:33738800-33747600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:33739800-33745000	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr11:33740000-33745000	Genic enhancers	Thymus	Thymus
16	chr11:33740000-33746000	Genic enhancers	Fetal Thymus	thymus
17	chr11:33740000-33747200	Genic enhancers	HSMM	muscle
18	chr11:33741000-33752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:33741200-33746600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:33741800-33746000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:33742200-33746600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:33742400-33744800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:33742800-33746200	Enhancers	Colon Smooth Muscle	Colon
24	chr11:33743000-33745400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr11:33743200-33745000	Genic enhancers	Rectal Mucosa Donor 29	rectum
26	chr11:33743200-33745400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
27	chr11:33743200-33746000	Enhancers	Rectal Smooth Muscle	rectum
28	chr11:33743200-33747200	Enhancers	Right Atrium	heart
29	chr11:33743400-33745000	Strong transcription	Fetal Stomach	stomach
30	chr11:33743400-33746400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
31	chr11:33743400-33746600	Genic enhancers	Esophagus	oesophagus
32	chr11:33743400-33746600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr11:33743400-33746800	Enhancers	Stomach Mucosa	stomach
34	chr11:33743600-33745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:33743600-33745600	Enhancers	GM12878-XiMat	blood
36	chr11:33743600-33746400	Enhancers	Small Intestine	intestine
37	chr11:33743600-33747200	Enhancers	Brain Hippocampus Middle	brain
38	chr11:33743800-33745000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr11:33743800-33745200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:33743800-33746000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:33743800-33747200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr11:33743800-33747600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:33744000-33744800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:33744000-33744800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr11:33744000-33744800	Weak transcription	Aorta	Aorta
46	chr11:33744000-33744800	Flanking Active TSS	NHDF-Ad	bronchial
47	chr11:33744000-33745200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr11:33744000-33745200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:33744000-33745200	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:33744000-33745200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links