Variant report

Variant	rs57867058
Chromosome Location	chr11:33745704-33745705
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	POLR2A	chr11:33745479-33746457	Hela-S3	cervix:	n/a	n/a
2	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
3	POLR2A	chr11:33745667-33746340	HepG2	liver:	n/a	n/a
4	RFX5	chr11:33745542-33746647	IMR90	lung:	n/a	n/a
5	RCOR1	chr11:33745644-33745844	Hela-S3	cervix:	n/a	n/a
6	EP300	chr11:33745664-33746166	HepG2	liver:	n/a	n/a
7	POLR2A	chr11:33745661-33746461	Hela-S3	cervix:	n/a	n/a
8	NR3C1	chr11:33745575-33746162	A549	lung:	n/a	chr11:33745900-33745915
9	POLR2A	chr11:33743642-33745936	Hela-S3	cervix:	n/a	n/a
10	TCF12	chr11:33744493-33745865	A549	lung:	n/a	n/a
11	MAFK	chr11:33745664-33745713	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:33742989-33746434	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:33742684-33746704	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr11:33742664-33746653	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr11:33744320-33745867	K562	blood:	n/a	n/a
16	TEAD4	chr11:33745486-33746160	K562	blood:	n/a	n/a
17	STAT1	chr11:33743940-33746120	Hela-S3	cervix:	n/a	chr11:33745002-33745011 chr11:33745000-33745011 chr11:33745001-33745010 chr11:33744963-33744971 chr11:33744020-33744032 chr11:33744999-33745013 chr11:33744850-33744859
18	POLR2A	chr11:33742620-33746516	HUVEC	blood vessel:	n/a	n/a
19	TCF7L2	chr11:33745579-33746063	Hela-S3	cervix:	n/a	chr11:33745856-33745865
20	TEAD4	chr11:33745647-33746149	HepG2	liver:	n/a	n/a
21	MAZ	chr11:33745674-33745814	K562	blood:	n/a	n/a
22	NR3C1	chr11:33745661-33746089	A549	lung:	n/a	chr11:33745900-33745915
23	BACH1	chr11:33745702-33745808	K562	blood:	n/a	n/a
24	JUND	chr11:33744109-33745728	SK-N-SH	brain:	n/a	chr11:33744848-33744860 chr11:33744851-33744858 chr11:33744849-33744859 chr11:33744848-33744859 chr11:33744846-33744857 chr11:33744849-33744858 chr11:33744850-33744859
25	POLR2A	chr11:33742848-33746301	IMR90	lung:	n/a	n/a

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
ENSG00000085063	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs58412081	1.00[AMR][1000 genomes]
rs58451441	1.00[AMR][1000 genomes]
rs61217095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61576899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73482997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484914	1.00[AMR][1000 genomes]
rs73490854	1.00[AMR][1000 genomes]
rs73490869	1.00[AMR][1000 genomes]
rs73491051	1.00[AMR][1000 genomes]
rs73492932	1.00[AMR][1000 genomes]
rs73494779	1.00[AMR][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

No data

Chromatin state (count:123 , 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	chr11:33723400-33745800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr11:33723400-33746000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:33723400-33753400	Weak transcription	Primary B cells from cord blood	blood
5	chr11:33732000-33745800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:33732000-33746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:33737600-33747000	Genic enhancers	HMEC	breast
8	chr11:33738600-33747400	Genic enhancers	NHEK	skin
9	chr11:33738800-33747600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:33740000-33746000	Genic enhancers	Fetal Thymus	thymus
11	chr11:33740000-33747200	Genic enhancers	HSMM	muscle
12	chr11:33741000-33752000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:33741200-33746600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:33741800-33746000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:33742200-33746600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:33742800-33746200	Enhancers	Colon Smooth Muscle	Colon
17	chr11:33743200-33746000	Enhancers	Rectal Smooth Muscle	rectum
18	chr11:33743200-33747200	Enhancers	Right Atrium	heart
19	chr11:33743400-33746400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
20	chr11:33743400-33746600	Genic enhancers	Esophagus	oesophagus
21	chr11:33743400-33746600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr11:33743400-33746800	Enhancers	Stomach Mucosa	stomach
23	chr11:33743600-33746400	Enhancers	Small Intestine	intestine
24	chr11:33743600-33747200	Enhancers	Brain Hippocampus Middle	brain
25	chr11:33743800-33746000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr11:33743800-33747200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr11:33743800-33747600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:33744000-33746000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:33744000-33746000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr11:33744000-33746200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr11:33744000-33746400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr11:33744000-33746800	Enhancers	Left Ventricle	heart
33	chr11:33744000-33747200	Enhancers	Brain Substantia Nigra	brain
34	chr11:33744000-33747200	Enhancers	Fetal Heart	heart
35	chr11:33744000-33755400	Weak transcription	Brain Germinal Matrix	brain
36	chr11:33744000-33755800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:33744000-33756400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:33744200-33745800	Enhancers	Spleen	Spleen
39	chr11:33744200-33745800	Flanking Active TSS	K562	blood
40	chr11:33744200-33746000	Weak transcription	Liver	Liver
41	chr11:33744200-33746000	Weak transcription	Fetal Brain Male	brain
42	chr11:33744200-33746000	Flanking Active TSS	Hela-S3	cervix
43	chr11:33744200-33746400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:33744200-33746400	Enhancers	Fetal Intestine Large	intestine
45	chr11:33744200-33746400	Enhancers	Pancreas	Pancrea
46	chr11:33744200-33746600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:33744200-33746600	Enhancers	Fetal Muscle Leg	muscle
48	chr11:33744200-33746600	Enhancers	Psoas Muscle	Psoas
49	chr11:33744200-33747000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:33744200-33747200	Enhancers	Brain Cingulate Gyrus	brain

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