Variant report

Variant	esv3352437
Chromosome Location	chr11:85437195-85437463
allele	n/a
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	ATF3	chr11:85437022-85437235	K562	blood:	n/a	n/a
2	CBX3	chr11:85436571-85437484	HCT-116	colon:	n/a	n/a
3	CBX3	chr11:85436418-85437521	HCT-116	colon:	n/a	n/a
4	CEBPB	chr11:85436706-85437444	HCT-116	colon:	n/a	n/a
5	CEBPB	chr11:85436811-85437316	HCT-116	colon:	n/a	n/a
6	CEBPB	chr11:85436954-85437343	Hela-S3	cervix:	n/a	n/a
7	E2F4	chr11:85437111-85437311	MCF10A-Er-Src	breast:	n/a	n/a
8	ELF1	chr11:85436734-85437483	HCT-116	colon:	n/a	n/a
9	ELF1	chr11:85436747-85437450	HCT-116	colon:	n/a	n/a
10	ELF1	chr11:85436910-85437286	A549	lung:	n/a	n/a
11	ELF1	chr11:85436775-85437453	SK-N-SH	brain:	n/a	n/a
12	EP300	chr11:85436998-85437329	SK-N-SH_RA	brain:	n/a	n/a
13	EP300	chr11:85436856-85437330	Hela-S3	cervix:	n/a	n/a
14	EP300	chr11:85436836-85437521	SK-N-SH	brain:	n/a	n/a
15	EP300	chr11:85436744-85437512	ECC-1	luminal epithelium:	n/a	n/a
16	FOS	chr11:85436626-85437619	HUVEC	blood vessel:	n/a	chr11:85437140-85437151
17	FOS	chr11:85436964-85437358	MCF10A-Er-Src	breast:	n/a	chr11:85437140-85437151
18	FOS	chr11:85436940-85437320	MCF10A-Er-Src	breast:	n/a	chr11:85437140-85437151
19	FOS	chr11:85436957-85437318	Hela-S3	cervix:	n/a	chr11:85437140-85437151
20	FOS	chr11:85436952-85437371	MCF10A-Er-Src	breast:	n/a	chr11:85437140-85437151
21	FOS	chr11:85436962-85437377	MCF10A-Er-Src	breast:	n/a	chr11:85437140-85437151
22	FOSL1	chr11:85436613-85437674	HCT-116	colon:	n/a	n/a
23	FOSL1	chr11:85436786-85437424	HCT-116	colon:	n/a	n/a
24	FOSL2	chr11:85436784-85437492	SK-N-SH	brain:	n/a	n/a
25	FOSL2	chr11:85436564-85437439	A549	lung:	n/a	n/a
26	FOSL2	chr11:85436930-85437292	A549	lung:	n/a	n/a
27	FOSL2	chr11:85436889-85437383	MCF-7	breast:	n/a	n/a
28	FOSL2	chr11:85436961-85437399	SK-N-SH	brain:	n/a	n/a
29	GABPA	chr11:85436861-85437311	A549	lung:	n/a	n/a
30	GATA2	chr11:85436490-85437800	HUVEC	blood vessel:	n/a	n/a
31	GATA3	chr11:85436572-85438080	SK-N-SH	brain:	n/a	n/a
32	GATA3	chr11:85436713-85437994	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr11:85436521-85437542	A549	lung:	n/a	n/a
34	JUN	chr11:85436900-85437376	Hela-S3	cervix:	n/a	n/a
35	JUN	chr11:85436703-85437396	HUVEC	blood vessel:	n/a	n/a
36	JUN	chr11:85436896-85437418	K562	blood:	n/a	n/a
37	JUN	chr11:85437034-85437282	HepG2	liver:	n/a	n/a
38	JUN	chr11:85436996-85437305	K562	blood:	n/a	n/a
39	JUND	chr11:85436712-85437491	HCT-116	colon:	n/a	chr11:85437140-85437151
40	JUND	chr11:85436574-85437570	SK-N-SH	brain:	n/a	chr11:85437140-85437151
41	JUND	chr11:85436969-85437308	K562	blood:	n/a	chr11:85437140-85437151
42	JUND	chr11:85436668-85437452	HCT-116	colon:	n/a	chr11:85437140-85437151
43	JUND	chr11:85436749-85437688	Hela-S3	cervix:	n/a	chr11:85437140-85437151
44	JUND	chr11:85436989-85437293	HepG2	liver:	n/a	chr11:85437140-85437151
45	JUND	chr11:85436758-85437466	SK-N-SH	brain:	n/a	chr11:85437140-85437151
46	JUND	chr11:85436991-85437297	H1-hESC	embryonic stem cell:	n/a	chr11:85437140-85437151
47	JUND	chr11:85436818-85437483	SK-N-SH	brain:	n/a	chr11:85437140-85437151
48	JUND	chr11:85436930-85437429	A549	lung:	n/a	chr11:85437140-85437151
49	KAP1	chr11:85436608-85437414	HEK293	kidney:	n/a	n/a
50	MAX	chr11:85436884-85437328	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:85374169..85377247-chr11:85434867..85438072,3	MCF-7	breast:
2	chr11:85434348..85438681-chr11:85520824..85523815,4	MCF-7	breast:

Variant related genes	Relation type
SYTL2	TF binding region
ENSG00000137504	chromatin interactions
ENSG00000137501	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144826107	chr11:85437196-85437197	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs369096723	chr11:85437197-85437198	Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs75207631	chr11:85437226-85437227	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs372983553	chr11:85437234-85437235	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs200315200	chr11:85437246-85437247	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs141925178	chr11:85437247-85437248	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs528073431	chr11:85437259-85437260	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs147296637	chr11:85437264-85437265	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs201835158	chr11:85437268-85437269	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs534314190	chr11:85437275-85437276	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs116055284	chr11:85437325-85437326	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs116639648	chr11:85437328-85437329	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570172257	chr11:85437329-85437330	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs144700046	chr11:85437368-85437369	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs147912942	chr11:85437389-85437390	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs115240923	chr11:85437405-85437406	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs200627406	chr11:85437430-85437431	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs570895958	chr11:85437436-85437437	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
Obesity	20622171	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung cancer	18438408	CNVD
Cancer	17440070	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85397200-85438600	Weak transcription	Colonic Mucosa	Colon
2	chr11:85412000-85438000	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:85417600-85453000	Weak transcription	Gastric	stomach
4	chr11:85422600-85448600	Weak transcription	Fetal Intestine Large	intestine
5	chr11:85422800-85448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr11:85424000-85448600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:85430200-85437800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:85430400-85437400	Weak transcription	Stomach Mucosa	stomach
9	chr11:85430400-85459000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:85430400-85480400	Weak transcription	Aorta	Aorta
11	chr11:85430600-85437200	Weak transcription	Fetal Kidney	kidney
12	chr11:85430600-85447000	Weak transcription	Ovary	ovary
13	chr11:85430800-85445000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:85430800-85447200	Weak transcription	Fetal Stomach	stomach
15	chr11:85430800-85448800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:85430800-85459000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:85431000-85445200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:85431400-85451600	Weak transcription	HSMMtube	muscle
19	chr11:85431800-85437600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:85431800-85466600	Weak transcription	Brain Substantia Nigra	brain
21	chr11:85432000-85460800	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:85432200-85448400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr11:85433800-85448600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:85434000-85439400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:85434200-85439800	Strong transcription	Primary T cells from cord blood	blood
26	chr11:85434600-85445000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr11:85434800-85448200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:85435200-85437400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr11:85435200-85439000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:85435400-85437800	Enhancers	NHLF	lung
31	chr11:85435400-85438000	Enhancers	NHDF-Ad	bronchial
32	chr11:85435400-85439000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr11:85435400-85448600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr11:85435600-85456400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:85436000-85437800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:85436000-85438000	Enhancers	Hela-S3	cervix
37	chr11:85436200-85437800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:85436200-85437800	Enhancers	NH-A	brain
39	chr11:85436200-85438000	Enhancers	NHEK	skin
40	chr11:85436200-85443600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:85436400-85437600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:85436400-85437600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:85436400-85437800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:85436400-85438400	Enhancers	HMEC	breast
45	chr11:85436600-85437600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr11:85436600-85437600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:85436600-85437600	Enhancers	Osteobl	bone
48	chr11:85436600-85437800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr11:85436600-85437800	Enhancers	HSMM	muscle
50	chr11:85436600-85438000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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