Variant report

Variant	esv3393531
Chromosome Location	chr11:77708709-77709212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr11:77708765-77709164	K562	blood:	n/a	n/a
2	POLR2A	chr11:77708877-77709045	K562	blood:	n/a	n/a
3	TAL1	chr11:77708861-77709132	K562	blood:	n/a	n/a
4	TEAD4	chr11:77708852-77709064	K562	blood:	n/a	n/a
5	ZNF384	chr11:77708799-77708995	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:77488328..77491203-chr11:77709162..77710811,2	K562	blood:
2	chr11:77706148..77708206-chr11:77708508..77712088,3	K562	blood:
3	chr11:77691216..77693251-chr11:77709176..77711368,2	MCF-7	breast:
4	chr11:77707797..77710429-chr11:77715233..77717227,2	K562	blood:

No data

Variant related genes	Relation type
INTS4	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186891097	chr11:77708709-77708710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536557736	chr11:77708725-77708726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553277566	chr11:77708727-77708728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572970868	chr11:77708741-77708742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545225606	chr11:77708792-77708793	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs191503818	chr11:77708824-77708825	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs564912475	chr11:77708829-77708830	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs114606770	chr11:77708831-77708832	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs367700562	chr11:77708854-77708855	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs543501789	chr11:77708874-77708875	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200012836	chr11:77708883-77708884	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs111284345	chr11:77708885-77708886	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs199584656	chr11:77708886-77708887	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs76056756	chr11:77708897-77708898	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs182136740	chr11:77708950-77708951	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs529205644	chr11:77708982-77708983	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs549287408	chr11:77708985-77708986	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs372696975	chr11:77709031-77709032	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs559584072	chr11:77709092-77709093	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs189084698	chr11:77709146-77709147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs72941385	chr11:77709176-77709177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs145426214	chr11:77709177-77709178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530744768	chr11:77709191-77709192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72941390	chr11:77709199-77709200	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs77710216	chr11:77709200-77709201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141392226	chr11:77709202-77709203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Glioblastoma multiforme	21138945	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
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	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
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	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
Ovarian clear cell carcinoma	21343371	CNVD
Intellectual disability	21811512	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77706400-77710800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:77706400-77711000	Weak transcription	Pancreas	Pancrea
3	chr11:77706600-77710200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr11:77706600-77710200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:77706600-77710400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:77706600-77710800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:77706600-77711000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:77706600-77711000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:77706600-77711000	Weak transcription	Brain Germinal Matrix	brain
10	chr11:77706600-77711000	Weak transcription	Brain Hippocampus Middle	brain
11	chr11:77706600-77711000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:77706600-77711000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr11:77706600-77711000	Weak transcription	HepG2	liver
14	chr11:77706600-77711200	Weak transcription	Brain Anterior Caudate	brain
15	chr11:77706600-77711200	Weak transcription	Fetal Heart	heart
16	chr11:77706600-77713400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:77706800-77711000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:77706800-77711000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr11:77707000-77709600	Weak transcription	Primary B cells from cord blood	blood
20	chr11:77707200-77709400	Weak transcription	Primary B cells from peripheral blood	blood
21	chr11:77707200-77711000	Weak transcription	Dnd41	blood

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