Variant report

Variant	rs831628
Chromosome Location	chr11:33744845-33744846
allele	C/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	TAF1	chr11:33744745-33745073	PFSK-1	brain:	n/a	n/a
2	BCL3	chr11:33744606-33745301	A549	lung:	n/a	n/a
3	GATA3	chr11:33744480-33745349	MCF-7	breast:	n/a	n/a
4	CREB1	chr11:33744814-33745119	A549	lung:	n/a	n/a
5	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
6	SP1	chr11:33744276-33745340	A549	lung:	n/a	chr11:33744325-33744334
7	MAFK	chr11:33744780-33745189	IMR90	lung:	n/a	chr11:33744967-33744978 chr11:33744966-33744981 chr11:33744966-33744977 chr11:33744966-33744977 chr11:33744965-33744979 chr11:33744966-33744982
8	GATA3	chr11:33743989-33745317	MCF-7	breast:	n/a	chr11:33744249-33744258
9	ELF1	chr11:33744703-33745257	A549	lung:	n/a	n/a
10	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
11	STAT5A	chr11:33744605-33745246	K562	blood:	n/a	chr11:33745002-33745011 chr11:33745001-33745010 chr11:33744963-33744971 chr11:33744999-33745013 chr11:33744850-33744859
12	POLR2A	chr11:33744719-33745185	HUVEC	blood vessel:	n/a	n/a
13	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
14	TBP	chr11:33744207-33745194	Hela-S3	cervix:	n/a	chr11:33745106-33745117
15	USF1	chr11:33744672-33745236	A549	lung:	n/a	n/a
16	TAL1	chr11:33744841-33745040	K562	blood:	n/a	n/a
17	POLR2A	chr11:33743891-33745384	Hela-S3	cervix:	n/a	n/a
18	CREB1	chr11:33744690-33745223	A549	lung:	n/a	n/a
19	REST	chr11:33744748-33745231	A549	lung:	n/a	n/a
20	POLR2A	chr11:33744131-33745115	HUVEC	blood vessel:	n/a	n/a
21	SIN3AK20	chr11:33744166-33745383	MCF-7	breast:	n/a	n/a
22	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
23	MYC	chr11:33744669-33745313	MCF10A-Er-Src	breast:	n/a	chr11:33745219-33745229
24	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
25	NR3C1	chr11:33744665-33745215	A549	lung:	n/a	n/a
26	BHLHE40	chr11:33744803-33745384	K562	blood:	n/a	n/a
27	SMC3	chr11:33744120-33745321	Hela-S3	cervix:	n/a	n/a
28	REST	chr11:33744763-33745094	K562	blood:	n/a	n/a
29	NR3C1	chr11:33744649-33745263	A549	lung:	n/a	n/a
30	MTA3	chr11:33744823-33745356	GM12878	blood:	n/a	n/a
31	YY1	chr11:33744612-33745163	A549	lung:	n/a	n/a
32	RCOR1	chr11:33744061-33745362	K562	blood:	n/a	n/a
33	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
34	PBX3	chr11:33744577-33745331	SK-N-SH	brain:	n/a	n/a
35	SMARCC1	chr11:33743576-33745488	Hela-S3	cervix:	n/a	chr11:33744849-33744858 chr11:33744850-33744859
36	NR2F2	chr11:33744068-33745473	K562	blood:	n/a	n/a
37	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
38	NR2F2	chr11:33744716-33745302	MCF-7	breast:	n/a	n/a
39	PML	chr11:33744779-33745301	GM12878	blood:	n/a	chr11:33744851-33744860
40	UBTF	chr11:33744720-33745263	K562	blood:	n/a	n/a
41	IKZF1	chr11:33744734-33745407	GM12878	blood:	n/a	n/a
42	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
43	ATF3	chr11:33744583-33745194	A549	lung:	n/a	n/a
44	GTF2F1	chr11:33744072-33745309	Hela-S3	cervix:	n/a	chr11:33745106-33745117
45	TEAD4	chr11:33744610-33745262	A549	lung:	n/a	n/a
46	MAX	chr11:33744826-33745405	K562	blood:	n/a	chr11:33745219-33745229
47	RCOR1	chr11:33744189-33745279	K562	blood:	n/a	n/a
48	USF1	chr11:33744731-33745148	A549	lung:	n/a	n/a
49	EBF1	chr11:33743997-33745421	GM12878	blood:	n/a	chr11:33744888-33744897 chr11:33744888-33744897 chr11:33744886-33744899 chr11:33744888-33744898
50	POLR2A	chr11:33744678-33745153	PFSK-1	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:33744823-33744873	HL-60	blood:	n/a
2	chr11:33744823-33744873	AG09309	skin:	n/a
3	chr11:33744823-33744873	SK-N-SH	brain:	n/a
4	chr11:33744823-33744873	SAEC	small airway:	n/a
5	chr11:33744823-33744873	Hepatocyte	liver:	n/a
6	chr11:33744823-33744873	AG04449	skin:	fetal
7	chr11:33744823-33744873	AG09319	gingival:	n/a
8	chr11:33744823-33744873	PrEC	prostate:	n/a
9	chr11:33744823-33744873	Jurkat	blood:	n/a
10	chr11:33744823-33744873	HEK293	kidney:	embryo
11	chr11:33744823-33744873	HMEC	breast:	n/a
12	chr11:33744823-33744873	BJ	skin:	n/a
13	chr11:33744823-33744873	HCM	heart:	n/a
14	chr11:33744823-33744873	SK-N-SH_RA	brain:	n/a
15	chr11:33744823-33744873	GM06990	blood:	n/a
16	chr11:33744823-33744873	IMR90	lung:	fetal
17	chr11:33744823-33744873	GM12878	blood:	n/a
18	chr11:33744823-33744873	SKMC	muscle:	n/a
19	chr11:33744823-33744873	NHDF-neo	bronchial:	n/a
20	chr11:33744823-33744873	CMK	blood:	n/a
21	chr11:33744823-33744873	A549	lung:	n/a
22	chr11:33744823-33744873	HNPCEpiC	eye:	n/a
23	chr11:33744823-33744873	MCF-7	breast:	n/a
24	chr11:33744823-33744873	AoSMC	blood vessel:	n/a
25	chr11:33744823-33744873	HepG2	liver:	n/a
26	chr11:33744823-33744873	GM12891	blood:	n/a
27	chr11:33744823-33744873	HAEpiC	amniotic membrane:	n/a
28	chr11:33744823-33744873	LNCaP	prostate:	n/a
29	chr11:33744823-33744873	HCF	heart:	n/a
30	chr11:33744823-33744873	Caco-2	colon:	n/a
31	chr11:33744823-33744873	U87	brain:	n/a
32	chr11:33744823-33744873	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:33744823-33744873	ProgFib	skin:	n/a
34	chr11:33744823-33744873	Hela-S3	cervix:	n/a
35	chr11:33744823-33744873	NB4	blood:	n/a
36	chr11:33744823-33744873	NT2-D1	testis:	n/a
37	chr11:33744823-33744873	H1-hESC	embryonic stem cell:	embryo
38	chr11:33744823-33744873	ECC-1	luminal epithelium:	n/a
39	chr11:33744823-33744873	MCF10A-Er-Src	breast:	n/a
40	chr11:33744823-33744873	HRCEpiC	kidney:	n/a
41	chr11:33744823-33744873	RPTEC	kidney:	n/a
42	chr11:33744823-33744873	HRPEpiC	eye:	n/a
43	chr11:33744823-33744873	HRE	kidney:	n/a
44	chr11:33744823-33744873	PANC-1	pancreas:	n/a
45	chr11:33744823-33744873	T-47D	breast:	n/a
46	chr11:33744823-33744873	HEEpiC	esophagus:	n/a
47	chr11:33744823-33744873	GM12892	blood:	n/a
48	chr11:33744823-33744873	BE2_C	brain:	n/a
49	chr11:33744823-33744873	HCT-116	colon:	n/a
50	chr11:33744823-33744873	AG04450	lung:	fetal

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	chr11:33744704..33746248-chr11:33754825..33757634,2	K562	blood:
7	chr11:33740434..33748761-chr11:33752749..33759182,20	MCF-7	breast:

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

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10501127	0.80[CEU][hapmap]
rs1522088	0.90[JPT][hapmap]
rs16924726	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs17687664	0.85[CEU][hapmap]
rs17760306	0.80[CEU][hapmap]
rs2686246	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs704700	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs831598	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs831601	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs831614	0.84[AMR][1000 genomes]
rs831619	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs831626	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs831632	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs831637	0.80[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs831628	CD59	cis	Esophagus Muscularis	GTEx
rs831628	CD59	cis	Artery Tibial	GTEx

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	chr11:33737000-33745000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:33737600-33747000	Genic enhancers	HMEC	breast
11	chr11:33738600-33747400	Genic enhancers	NHEK	skin
12	chr11:33738800-33747600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:33739800-33745000	Genic enhancers	Fetal Muscle Trunk	muscle
14	chr11:33740000-33745000	Genic enhancers	Thymus	Thymus
15	chr11:33740000-33746000	Genic enhancers	Fetal Thymus	thymus
16	chr11:33740000-33747200	Genic enhancers	HSMM	muscle
17	chr11:33741000-33752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr11:33741200-33746600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:33741800-33746000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:33742200-33746600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:33742800-33746200	Enhancers	Colon Smooth Muscle	Colon
22	chr11:33743000-33745400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:33743200-33745000	Genic enhancers	Rectal Mucosa Donor 29	rectum
24	chr11:33743200-33745400	Genic enhancers	Duodenum Smooth Muscle	Duodenum
25	chr11:33743200-33746000	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:33743200-33747200	Enhancers	Right Atrium	heart
27	chr11:33743400-33745000	Strong transcription	Fetal Stomach	stomach
28	chr11:33743400-33746400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
29	chr11:33743400-33746600	Genic enhancers	Esophagus	oesophagus
30	chr11:33743400-33746600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:33743400-33746800	Enhancers	Stomach Mucosa	stomach
32	chr11:33743600-33745000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr11:33743600-33745600	Enhancers	GM12878-XiMat	blood
34	chr11:33743600-33746400	Enhancers	Small Intestine	intestine
35	chr11:33743600-33747200	Enhancers	Brain Hippocampus Middle	brain
36	chr11:33743800-33745000	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:33743800-33745200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr11:33743800-33746000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr11:33743800-33747200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr11:33743800-33747600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:33744000-33745200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr11:33744000-33745200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr11:33744000-33745200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr11:33744000-33745200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr11:33744000-33745200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:33744000-33745200	Weak transcription	Brain Angular Gyrus	brain
47	chr11:33744000-33745200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr11:33744000-33746000	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:33744000-33746000	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr11:33744000-33746200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links