Variant report

Variant	esv3332923
Chromosome Location	chr11:65961593-65981589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:65963358-65963589	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:65977005-65977224	HepG2	liver:	n/a	chr11:65977189-65977200
3	CEBPB	chr11:65977095-65977229	IMR90	lung:	n/a	chr11:65977189-65977200
4	CEBPB	chr11:65977086-65977165	Hela-S3	cervix:	n/a	n/a
5	CTCF	chr11:65966156-65966198	GM10248	blood:	n/a	n/a
6	CTCF	chr11:65970114-65970150	Medullo	brain:	n/a	n/a
7	CTCF	chr11:65971193-65971234	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr11:65974722-65974761	GM20000	blood:	n/a	n/a
9	CTCF	chr11:65976520-65976670	NB4	blood:	n/a	n/a
10	E2F4	chr11:65965294-65965353	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr11:65963306-65963640	HepG2	liver:	n/a	n/a
12	FOS	chr11:65977061-65977213	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr11:65977014-65977251	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr11:65977030-65977209	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr11:65977016-65977180	MCF10A-Er-Src	breast:	n/a	n/a
16	FOXA1	chr11:65963242-65963676	HepG2	liver:	n/a	n/a
17	FOXA1	chr11:65963162-65963708	HepG2	liver:	n/a	n/a
18	FOXA1	chr11:65963224-65963721	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:65963158-65963801	HepG2	liver:	n/a	n/a
20	FOXA2	chr11:65963280-65963732	A549	lung:	n/a	n/a
21	FOXA2	chr11:65962981-65963922	HepG2	liver:	n/a	n/a
22	FOXA2	chr11:65963233-65963680	HepG2	liver:	n/a	n/a
23	FOXA2	chr11:65963266-65963802	A549	lung:	n/a	n/a
24	GATA2	chr11:65975045-65975449	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr11:65963246-65963869	MCF-7	breast:	n/a	chr11:65963543-65963551
26	HNF4A	chr11:65963293-65963598	HepG2	liver:	n/a	n/a
27	HNF4A	chr11:65963266-65963555	HepG2	liver:	n/a	n/a
28	HNF4G	chr11:65963347-65963670	HepG2	liver:	n/a	n/a
29	HNF4G	chr11:65963320-65963605	HepG2	liver:	n/a	n/a
30	JUND	chr11:65976966-65977241	HepG2	liver:	n/a	chr11:65977108-65977119
31	MAFK	chr11:65977082-65977084	HepG2	liver:	n/a	n/a
32	MAFK	chr11:65963394-65963504	HepG2	liver:	n/a	n/a
33	MYC	chr11:65977148-65977248	HepG2	liver:	n/a	n/a
34	MYC	chr11:65978128-65978209	MCF-7	breast:	n/a	n/a
35	NR2F2	chr11:65963151-65963918	MCF-7	breast:	n/a	n/a
36	NR2F2	chr11:65963192-65963800	HepG2	liver:	n/a	n/a
37	NR2F2	chr11:65963268-65963801	HepG2	liver:	n/a	n/a
38	NR3C1	chr11:65963382-65963521	A549	lung:	n/a	n/a
39	NR3C1	chr11:65963307-65963640	A549	lung:	n/a	n/a
40	POLR2A	chr11:65969941-65970004	MCF-7	breast:	n/a	n/a
41	POLR2A	chr11:65970321-65970475	ProgFib	skin:	n/a	n/a
42	POLR2A	chr11:65978045-65978089	HUVEC	blood vessel:	n/a	n/a
43	POLR2A	chr11:65963621-65963631	MCF-7	breast:	n/a	n/a
44	POLR2A	chr11:65978223-65978227	MCF-7	breast:	n/a	n/a
45	POLR2A	chr11:65972154-65972208	ProgFib	skin:	n/a	n/a
46	POLR2A	chr11:65978183-65978214	MCF-7	breast:	n/a	n/a
47	POLR2A	chr11:65963633-65963635	MCF-7	breast:	n/a	n/a
48	POLR2A	chr11:65978408-65978504	ProgFib	skin:	n/a	n/a
49	POLR2A	chr11:65978215-65978222	MCF-7	breast:	n/a	n/a
50	POLR2A	chr11:65978229-65978271	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65964002..65966014-chr11:65967353..65969293,2	K562	blood:
2	chr11:65980950..65982569-chr11:65982585..65984496,2	K562	blood:
3	chr11:65958383..65961090-chr11:65973848..65975622,2	MCF-7	breast:
4	chr11:65978607..65980308-chr11:65981258..65983045,2	K562	blood:
5	chr11:65955717..65957980-chr11:65978681..65980223,2	MCF-7	breast:
6	chr11:65900786..65903675-chr11:65962216..65963909,2	MCF-7	breast:
7	chr11:65960425..65963156-chr11:65986066..65988813,2	MCF-7	breast:
8	chr11:65839190..65841660-chr11:65977914..65980146,2	K562	blood:
9	chr11:65955163..65956790-chr11:65961357..65963533,2	K562	blood:
10	chr11:65956435..65961151-chr11:65961394..65965581,4	K562	blood:
11	chr11:65978607..65980308-chr11:65981258..65983045,2	K562	blood:
12	chr11:65964002..65966014-chr11:65967353..65969293,2	K562	blood:

No data

Variant related genes	Relation type
PACS1	TF binding region
ENSG00000175115	chromatin interactions

Extended variants
information (count: 723 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:723 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540492689	chr11:65961678-65961679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs561209164	chr11:65961726-65961727	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs201986514	chr11:65961801-65961802	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560462957	chr11:65961819-65961820	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs561933	chr11:65961840-65961841	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs190062724	chr11:65961854-65961855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548881745	chr11:65961868-65961869	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575064312	chr11:65961873-65961874	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182725604	chr11:65961936-65961937	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs495684	chr11:65962002-65962003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs185247988	chr11:65962015-65962016	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs570871875	chr11:65962019-65962020	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs190889174	chr11:65962116-65962117	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs370455371	chr11:65962150-65962151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143431161	chr11:65962252-65962253	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536181609	chr11:65962341-65962342	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530939812	chr11:65962412-65962413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560536787	chr11:65962492-65962493	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555648133	chr11:65962524-65962525	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10896095	chr11:65962560-65962561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs568476590	chr11:65962573-65962574	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145672221	chr11:65962585-65962586	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1151537	chr11:65962592-65962593	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs184033954	chr11:65962768-65962769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550836975	chr11:65962805-65962806	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567536843	chr11:65962843-65962844	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs143463317	chr11:65962846-65962847	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs560562391	chr11:65962861-65962862	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188927976	chr11:65962863-65962864	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs193260370	chr11:65962868-65962869	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs4930344	chr11:65962883-65962884	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531533723	chr11:65962952-65962953	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113099215	chr11:65962958-65962959	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182716634	chr11:65962986-65962987	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553219747	chr11:65963034-65963035	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527415852	chr11:65963115-65963116	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs150951415	chr11:65963128-65963129	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs567270192	chr11:65963137-65963138	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs148581168	chr11:65963143-65963144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs142034152	chr11:65963156-65963157	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs117446272	chr11:65963196-65963197	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569312346	chr11:65963220-65963221	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs550440014	chr11:65963247-65963248	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184177309	chr11:65963263-65963264	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187445940	chr11:65963326-65963327	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558437001	chr11:65963327-65963328	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578127864	chr11:65963355-65963356	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs191547038	chr11:65963379-65963380	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566953132	chr11:65963510-65963511	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs10791854	chr11:65963543-65963544	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65929600-65977800	Weak transcription	HSMMtube	muscle
2	chr11:65938400-65978000	Weak transcription	Aorta	Aorta
3	chr11:65940000-65978000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:65940400-65978000	Weak transcription	Esophagus	oesophagus
5	chr11:65944400-65977800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:65944600-65963600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:65949800-65977800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:65950200-65978400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:65951200-65962800	Weak transcription	Brain Substantia Nigra	brain
10	chr11:65952200-65961800	Weak transcription	Brain Anterior Caudate	brain
11	chr11:65952200-65967400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:65952400-65967800	Weak transcription	Brain Germinal Matrix	brain
13	chr11:65953000-65966200	Strong transcription	Primary T cells from cord blood	blood
14	chr11:65956400-65967400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:65957000-65961800	Weak transcription	HUVEC	blood vessel
16	chr11:65957000-65978400	Weak transcription	Brain Angular Gyrus	brain
17	chr11:65957400-65966000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr11:65957600-65962000	Weak transcription	NH-A	brain
19	chr11:65958400-65967400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:65958400-65967600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr11:65958800-65977800	Weak transcription	Lung	lung
22	chr11:65958800-65978600	Weak transcription	Pancreas	Pancrea
23	chr11:65958800-65983600	Weak transcription	Small Intestine	intestine
24	chr11:65958800-65989200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr11:65959000-65965800	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:65959200-65967800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:65959200-65989400	Weak transcription	K562	blood
28	chr11:65959400-65963200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr11:65959400-65963400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr11:65959400-65983400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:65959600-65965600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:65959600-65966200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:65959600-65968400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr11:65959600-65978400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr11:65959600-65983600	Weak transcription	Colonic Mucosa	Colon
36	chr11:65959800-65964000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:65959800-65966200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr11:65959800-65966200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:65959800-65967000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:65960000-65962000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:65960000-65962000	Strong transcription	Spleen	Spleen
42	chr11:65960000-65963400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:65960000-65963400	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr11:65960000-65963400	Weak transcription	Stomach Mucosa	stomach
45	chr11:65960000-65963800	Strong transcription	Fetal Stomach	stomach
46	chr11:65960000-65965400	Weak transcription	Fetal Lung	lung
47	chr11:65960000-65966200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr11:65960200-65962200	Strong transcription	Colon Smooth Muscle	Colon
49	chr11:65960200-65963200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:65960200-65963400	Strong transcription	HSMM	muscle

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