Variant report

Variant	rs7131557
Chromosome Location	chr11:9591249-9591250
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr11:9590584-9591330	A549	lung:	n/a	n/a
2	POLR2A	chr11:9589813-9591762	IMR90	lung:	n/a	n/a
3	CEBPB	chr11:9590673-9591300	A549	lung:	n/a	n/a
4	GATA3	chr11:9590030-9591256	MCF-7	breast:	n/a	n/a
5	GATA3	chr11:9590213-9591251	MCF-7	breast:	n/a	n/a
6	TCF12	chr11:9590215-9591358	A549	lung:	n/a	n/a
7	FOXA2	chr11:9590774-9591253	A549	lung:	n/a	n/a
8	POLR2A	chr11:9590545-9591453	HepG2	liver:	n/a	n/a
9	EP300	chr11:9590328-9591303	A549	lung:	n/a	chr11:9590789-9590803 chr11:9590587-9590601
10	MYBL2	chr11:9590419-9591346	HepG2	liver:	n/a	n/a
11	MAX	chr11:9590310-9591349	HepG2	liver:	n/a	n/a
12	EP300	chr11:9590695-9591250	HepG2	liver:	n/a	chr11:9590789-9590803
13	NFIC	chr11:9590463-9591262	HepG2	liver:	n/a	n/a
14	POLR2A	chr11:9589767-9592014	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr11:9590265-9591287	A549	lung:	n/a	n/a
16	TBP	chr11:9590278-9591551	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:9590214-9591724	HepG2	liver:	n/a	n/a
18	SP1	chr11:9590257-9591450	A549	lung:	n/a	n/a
19	JUND	chr11:9590259-9591283	T-47D	breast:	n/a	n/a
20	FOXA2	chr11:9590380-9591878	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:9589645-9591829	MCF10A-Er-Src	breast:	n/a	n/a
22	SIN3AK20	chr11:9590110-9591354	MCF-7	breast:	n/a	n/a
23	SP1	chr11:9590503-9591258	HepG2	liver:	n/a	n/a
24	SP1	chr11:9590079-9591342	HCT-116	colon:	n/a	n/a
25	KAP1	chr11:9589834-9591346	HEK293	kidney:	n/a	n/a
26	SP1	chr11:9590328-9591460	A549	lung:	n/a	n/a
27	POLR2A	chr11:9590192-9591338	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:9589863..9592978-chr11:9632988..9635615,3	K562	blood:
2	chr11:9590419..9592271-chr2:43454961..43457275,2	MCF-7	breast:
3	chr11:9589366..9592285-chr11:9609804..9612652,2	MCF-7	breast:
4	chr11:9482098..9486375-chr11:9587030..9591762,7	K562	blood:
5	chr11:9589955..9591769-chr11:9771252..9773790,2	MCF-7	breast:
6	chr11:9587790..9592116-chr11:9635065..9637852,3	MCF-7	breast:
7	chr11:9480903..9485608-chr11:9587733..9592274,8	MCF-7	breast:

No data

Variant related genes	Relation type
WEE1	TF binding region
ENSG00000268403	Chromatin interaction
ENSG00000234936	Chromatin interaction
ENSG00000166478	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1049403	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10770042	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10840263	0.90[EUR][1000 genomes]
rs11042426	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042429	0.82[ASN][1000 genomes]
rs11042431	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12799030	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35981065	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3829254	0.92[ASN][1000 genomes]
rs7927591	0.94[ASN][1000 genomes]
rs7940672	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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	nsv427882	chr11:9431600-9626580	Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv553467	chr11:9518551-9648721	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9584200-9594400	Enhancers	Stomach Mucosa	stomach
2	chr11:9584200-9594400	Weak transcription	Spleen	Spleen
3	chr11:9585200-9593600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:9585200-9594400	Weak transcription	Esophagus	oesophagus
5	chr11:9585200-9594400	Weak transcription	Lung	lung
6	chr11:9586000-9591600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:9586400-9594200	Enhancers	Fetal Intestine Small	intestine
8	chr11:9586600-9591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:9586600-9594000	Enhancers	Placenta	Placenta
10	chr11:9586600-9594200	Enhancers	Fetal Intestine Large	intestine
11	chr11:9588000-9594400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr11:9588000-9594400	Weak transcription	Gastric	stomach
13	chr11:9588600-9593800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr11:9588600-9594000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr11:9589600-9591600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:9589600-9591800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:9589600-9591800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:9589600-9591800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:9589600-9591800	Enhancers	Fetal Stomach	stomach
20	chr11:9589600-9594200	Enhancers	Primary B cells from cord blood	blood
21	chr11:9589800-9591600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr11:9589800-9591600	Enhancers	Colon Smooth Muscle	Colon
23	chr11:9589800-9591600	Flanking Active TSS	HepG2	liver
24	chr11:9589800-9591800	Enhancers	HSMMtube	muscle
25	chr11:9589800-9593000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr11:9589800-9594200	Enhancers	Primary B cells from peripheral blood	blood
27	chr11:9590000-9591400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr11:9590000-9591600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:9590000-9591600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:9590000-9591600	Enhancers	Primary hematopoietic stem cells	blood
31	chr11:9590000-9591600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr11:9590000-9594200	Weak transcription	Fetal Brain Male	brain
33	chr11:9590000-9594200	Weak transcription	Ovary	ovary
34	chr11:9590200-9591400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr11:9590200-9591600	Enhancers	Primary T cells from cord blood	blood
36	chr11:9590200-9591600	Flanking Active TSS	A549	lung
37	chr11:9590200-9591600	Enhancers	HUVEC	blood vessel
38	chr11:9590200-9591800	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr11:9590600-9591400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:9590600-9591600	Enhancers	Small Intestine	intestine
41	chr11:9590600-9591600	Flanking Active TSS	HMEC	breast
42	chr11:9590600-9593000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr11:9590600-9594200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr11:9590600-9594200	Weak transcription	Brain Anterior Caudate	brain
45	chr11:9590800-9591400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr11:9590800-9591400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:9590800-9591600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:9590800-9591600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:9590800-9591600	Enhancers	Left Ventricle	heart
50	chr11:9590800-9591600	Active TSS	Rectal Mucosa Donor 29	rectum

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