Variant report

Variant	rs17885718
Chromosome Location	chr11:64950638-64950639
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:19 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:64950559-64951427	MCF-7	breast:	n/a	n/a
2	GATA3	chr11:64950503-64951579	MCF-7	breast:	n/a	n/a
3	MAX	chr11:64950586-64951635	MCF-7	breast:	n/a	n/a
4	NFIC	chr11:64950524-64951623	ECC-1	luminal epithelium:	n/a	n/a
5	NFIC	chr11:64950349-64951650	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:64950611-64951360	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr11:64950579-64951522	ECC-1	luminal epithelium:	n/a	n/a
8	EP300	chr11:64950624-64950951	T-47D	breast:	n/a	n/a
9	EP300	chr11:64950538-64951698	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:64948045-64950989	K562	blood:	n/a	n/a
11	SIN3AK20	chr11:64950531-64951614	MCF-7	breast:	n/a	n/a
12	TCF12	chr11:64950521-64951504	ECC-1	luminal epithelium:	n/a	chr11:64951086-64951096 chr11:64950932-64950942
13	ZBTB7A	chr11:64948110-64951299	ECC-1	luminal epithelium:	n/a	chr11:64949459-64949470
14	POLR2A	chr11:64950448-64950753	MCF-7	breast:	n/a	n/a
15	POLR2A	chr11:64946681-64957644	K562	blood:	n/a	n/a
16	GATA3	chr11:64950599-64950949	T-47D	breast:	n/a	n/a
17	REST	chr11:64950606-64951032	MCF-7	breast:	n/a	n/a
18	ZBTB7A	chr11:64948160-64950721	ECC-1	luminal epithelium:	n/a	chr11:64949459-64949470
19	NR2F2	chr11:64950592-64951485	MCF-7	breast:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
2	chr11:64948280..64951360-chr11:64970311..64973843,4	MCF-7	breast:
3	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
4	chr11:64943825..64947169-chr11:64947454..64950649,5	K562	blood:
5	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
6	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
7	chr11:64806998..64808499-chr11:64948414..64950755,2	MCF-7	breast:
8	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
9	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
10	chr11:64949731..64952366-chr11:64986911..64988700,2	K562	blood:
11	chr11:64949318..64950980-chr11:65546666..65549109,2	MCF-7	breast:
12	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
13	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
14	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
15	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
16	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
17	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
18	chr11:64947252..64950708-chr11:65267391..65271454,4	K562	blood:
19	chr11:64646646..64648212-chr11:64949732..64952705,2	MCF-7	breast:
20	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:
21	chr11:64878011..64879555-chr11:64948753..64950744,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254614	TF binding region
CAPN1	TF binding region
ENSG00000255200	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000197847	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000222477	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17880328	1.00[EUR][1000 genomes]
rs17880800	0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17881673	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17883372	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58874511	1.00[EUR][1000 genomes]
rs59600966	1.00[EUR][1000 genomes]
rs7933743	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv3339354	chr11:64947901-64950749	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64947600-64950800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:64948000-64950800	Active TSS	HSMM	muscle
5	chr11:64948000-64951000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:64948000-64951000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:64948000-64951000	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr11:64948000-64952000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr11:64948200-64950800	Active TSS	Gastric	stomach
10	chr11:64948200-64951000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:64948200-64951400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr11:64948200-64951600	Enhancers	Fetal Brain Male	brain
13	chr11:64948400-64950800	Active TSS	HMEC	breast
14	chr11:64949400-64951000	Flanking Active TSS	Brain Germinal Matrix	brain
15	chr11:64949400-64952400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:64949600-64950800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
17	chr11:64949600-64950800	Flanking Active TSS	Colonic Mucosa	Colon
18	chr11:64949600-64950800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr11:64949600-64951000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:64949600-64951000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:64949600-64951400	Flanking Active TSS	Placenta	Placenta
22	chr11:64949800-64950800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:64949800-64950800	Flanking Active TSS	Dnd41	blood
24	chr11:64949800-64950800	Flanking Active TSS	Osteobl	bone
25	chr11:64949800-64951000	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr11:64949800-64951200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
27	chr11:64950000-64950800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr11:64950000-64950800	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr11:64950000-64951000	Flanking Active TSS	Lung	lung
30	chr11:64950000-64951000	Flanking Active TSS	Hela-S3	cervix
31	chr11:64950000-64951400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:64950000-64951400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
33	chr11:64950000-64951600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:64950000-64951800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
35	chr11:64950200-64950800	Enhancers	Primary B cells from cord blood	blood
36	chr11:64950200-64950800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr11:64950200-64950800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr11:64950200-64950800	Flanking Active TSS	Stomach Mucosa	stomach
39	chr11:64950200-64950800	Enhancers	Spleen	Spleen
40	chr11:64950200-64950800	Flanking Active TSS	NHLF	lung
41	chr11:64950200-64951000	Enhancers	Primary T cells from cord blood	blood
42	chr11:64950200-64951000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:64950200-64951000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr11:64950200-64951000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr11:64950200-64951000	Enhancers	Liver	Liver
46	chr11:64950200-64951200	Enhancers	Primary B cells from peripheral blood	blood
47	chr11:64950200-64951200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr11:64950200-64951200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:64950200-64951200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr11:64950200-64951400	Flanking Active TSS	Fetal Intestine Large	intestine

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