Variant report

Variant	esv1787124
Chromosome Location	chr13:95359459-95359460
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr13:95359027-95360743	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr13:95359104-95359590	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr13:95359174-95360317	H1-hESC	embryonic stem cell:	n/a	n/a
4	KAP1	chr13:95359115-95361120	HEK293	kidney:	n/a	n/a
5	MAX	chr13:95359395-95360250	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr13:95358761-95359761	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr13:95358768-95360299	H1-neurons	neurons:	n/a	n/a
8	SIN3A	chr13:95359172-95360248	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:95354749..95357417-chr13:95358781..95361227,3	MCF-7	breast:
2	chr13:95325863..95327596-chr13:95357586..95359779,2	MCF-7	breast:
3	chr13:95357906..95359959-chr13:95361552..95364059,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SOX21-1	chr13:95358391-95359564	XLOC_010695

No data

Variant related genes	Relation type
LINC00391	TF binding region
ENSG00000238230	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 83 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs398037779	chr13:95359460-95359461	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Rhabdomyosarcoma	17210683	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95355800-95359600	Weak transcription	Pancreas	Pancrea
2	chr13:95357200-95359600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr13:95357600-95360800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:95357800-95359600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr13:95358400-95361600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
6	chr13:95358400-95361600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
7	chr13:95358600-95359600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:95358600-95359600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:95358600-95362400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr13:95358800-95360800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr13:95358800-95361000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:95358800-95361000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
13	chr13:95358800-95361200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr13:95358800-95361600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
15	chr13:95358800-95366200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr13:95359000-95359600	Active TSS	Brain Germinal Matrix	brain
17	chr13:95359000-95360000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
18	chr13:95359000-95360800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr13:95359000-95360800	Active TSS	Brain Substantia Nigra	brain
20	chr13:95359000-95360800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
21	chr13:95359000-95360800	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr13:95359000-95362200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
23	chr13:95359000-95368000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:95359200-95359600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
25	chr13:95359200-95359600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
26	chr13:95359200-95360200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr13:95359200-95360400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
28	chr13:95359200-95360600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:95359200-95360800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr13:95359200-95360800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
31	chr13:95359200-95360800	Bivalent/Poised TSS	NH-A	brain
32	chr13:95359200-95361000	Active TSS	Brain Anterior Caudate	brain
33	chr13:95359200-95366600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr13:95359400-95359600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr13:95359400-95359600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr13:95359400-95359600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr13:95359400-95359600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
38	chr13:95359400-95359600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
39	chr13:95359400-95359600	Bivalent/Poised TSS	NHEK	skin
40	chr13:95359400-95360200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:95359400-95360200	Bivalent Enhancer	Fetal Heart	heart
42	chr13:95359400-95360400	Bivalent/Poised TSS	A549	lung
43	chr13:95359400-95360600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr13:95359400-95360800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:95359400-95360800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr13:95359400-95360800	Bivalent Enhancer	Fetal Stomach	stomach
47	chr13:95359400-95361000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr13:95359400-95361000	Active TSS	H9 Cell Line	embryonic stem cell

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