Variant report

Variant	rs17885809
Chromosome Location	chr11:64951470-64951471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64951405-64951780	K562	blood:	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	MAX	chr11:64950678-64951645	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr11:64951372-64951698	K562	blood:	n/a	n/a
6	ZBTB7A	chr11:64950744-64951482	ECC-1	luminal epithelium:	n/a	n/a
7	NFIC	chr11:64950524-64951623	ECC-1	luminal epithelium:	n/a	n/a
8	NFIC	chr11:64950349-64951650	ECC-1	luminal epithelium:	n/a	n/a
9	SIN3A	chr11:64951306-64951821	H1-hESC	embryonic stem cell:	n/a	n/a
10	TEAD4	chr11:64950579-64951522	ECC-1	luminal epithelium:	n/a	n/a
11	EP300	chr11:64950538-64951698	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr11:64950852-64951966	ECC-1	luminal epithelium:	n/a	n/a
13	SIN3AK20	chr11:64950531-64951614	MCF-7	breast:	n/a	n/a
14	TCF12	chr11:64950521-64951504	ECC-1	luminal epithelium:	n/a	chr11:64951086-64951096 chr11:64950932-64950942
15	POLR2A	chr11:64946681-64957644	K562	blood:	n/a	n/a
16	TCF12	chr11:64950657-64951761	ECC-1	luminal epithelium:	n/a	chr11:64951086-64951096 chr11:64950932-64950942
17	MAX	chr11:64950899-64951560	MCF-7	breast:	n/a	n/a
18	MAX	chr11:64951392-64951865	H1-hESC	embryonic stem cell:	n/a	n/a
19	TEAD4	chr11:64950662-64951551	ECC-1	luminal epithelium:	n/a	n/a
20	NR2F2	chr11:64950592-64951485	MCF-7	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
2	chr11:64899351..64904069-chr11:64950676..64953624,5	K562	blood:
3	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
4	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
5	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
6	chr11:64937018..64939498-chr11:64950908..64953438,2	MCF-7	breast:
7	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
8	chr11:64949731..64952366-chr11:64986911..64988700,2	K562	blood:
9	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
10	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
11	chr11:64950995..64952839-chr11:65029401..65031022,2	MCF-7	breast:
12	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
13	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
14	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
15	chr11:64646646..64648212-chr11:64949732..64952705,2	MCF-7	breast:
16	chr11:64945380..64947486-chr11:64951371..64953143,2	K562	blood:

No data

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000254614	TF binding region
ENSG00000197847	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000254614	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000254455	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11824855	1.00[AMR][1000 genomes]
rs11826089	1.00[AMR][1000 genomes]
rs17884528	1.00[AMR][1000 genomes]
rs17885792	1.00[AMR][1000 genomes]
rs73480948	1.00[AMR][1000 genomes]
rs7927821	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:64948000-64952000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:64948200-64951600	Enhancers	Fetal Brain Male	brain
4	chr11:64949400-64952400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:64950000-64951600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:64950000-64951800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:64950200-64951600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr11:64950200-64951800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr11:64950200-64952400	Enhancers	Fetal Heart	heart
10	chr11:64950400-64951600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:64950400-64951600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr11:64950400-64951600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:64950400-64951800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:64950400-64951800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
15	chr11:64950400-64952800	Genic enhancers	Primary T cells fromperipheralblood	blood
16	chr11:64950400-64953400	Weak transcription	Aorta	Aorta
17	chr11:64950400-64953400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr11:64950400-64953600	Weak transcription	Ovary	ovary
19	chr11:64950400-64954200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:64950400-64955400	Weak transcription	Small Intestine	intestine
21	chr11:64950400-64956200	Weak transcription	Brain Substantia Nigra	brain
22	chr11:64950400-64973200	Weak transcription	Fetal Kidney	kidney
23	chr11:64950600-64951600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:64950600-64952000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:64950600-64952200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:64950600-64952400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:64950600-64953200	Weak transcription	Brain Anterior Caudate	brain
28	chr11:64950600-64953400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr11:64950600-64953400	Weak transcription	Left Ventricle	heart
30	chr11:64950600-64953800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:64950600-64954000	Weak transcription	HSMMtube	muscle
32	chr11:64950600-64957200	Weak transcription	Psoas Muscle	Psoas
33	chr11:64950600-64992400	Weak transcription	Right Atrium	heart
34	chr11:64950800-64951800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr11:64950800-64951800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:64950800-64951800	Enhancers	Stomach Mucosa	stomach
37	chr11:64950800-64951800	Genic enhancers	Spleen	Spleen
38	chr11:64950800-64952200	Weak transcription	Primary B cells from cord blood	blood
39	chr11:64950800-64952200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:64950800-64952400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:64950800-64952400	Transcr. at gene 5' and 3'	Esophagus	oesophagus
42	chr11:64950800-64952800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr11:64950800-64953200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr11:64950800-64953400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr11:64950800-64956000	Weak transcription	HSMM	muscle
46	chr11:64951000-64951600	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:64951000-64951600	Genic enhancers	Dnd41	blood
48	chr11:64951000-64951800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr11:64951000-64951800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr11:64951000-64951800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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