Variant report

Variant	esv3372118
Chromosome Location	chr13:95868804-95869159
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:95863328..95866133-chr13:95869098..95871173,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562906165	chr13:95868830-95868831	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs2478463	chr13:95868861-95868862	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199711816	chr13:95868863-95868864	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201783280	chr13:95868867-95868868	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77565606	chr13:95868868-95868869	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74815713	chr13:95868869-95868870	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200106547	chr13:95868880-95868881	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560729046	chr13:95868881-95868882	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571851922	chr13:95868882-95868883	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34429583	chr13:95868886-95868887	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61965938	chr13:95868888-95868889	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534785438	chr13:95868958-95868959	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4771907	chr13:95868980-95868981	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs188803022	chr13:95868983-95868984	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193216812	chr13:95868985-95868986	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs9561809	chr13:95868992-95868993	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571859715	chr13:95869002-95869003	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9516542	chr13:95869057-95869058	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4148466	chr13:95869092-95869093	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs4148465	chr13:95869131-95869132	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:84)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95827400-95872400	Weak transcription	NH-A	brain
2	chr13:95840400-95874400	Weak transcription	Pancreas	Pancrea
3	chr13:95842000-95869000	Weak transcription	Fetal Kidney	kidney
4	chr13:95842200-95898200	Weak transcription	NHDF-Ad	bronchial
5	chr13:95846000-95871400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:95846200-95872400	Weak transcription	Brain Anterior Caudate	brain
7	chr13:95847800-95880400	Weak transcription	Ovary	ovary
8	chr13:95856400-95872600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:95856400-95898200	Weak transcription	NHEK	skin
10	chr13:95858600-95880400	Weak transcription	Fetal Thymus	thymus
11	chr13:95859000-95874800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr13:95859000-95878800	Weak transcription	Esophagus	oesophagus
13	chr13:95859000-95879000	Weak transcription	Gastric	stomach
14	chr13:95859000-95885800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr13:95859000-95887800	Weak transcription	HSMM	muscle
16	chr13:95859000-95901000	Weak transcription	Aorta	Aorta
17	chr13:95859200-95880000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr13:95859200-95901400	Weak transcription	Primary T cells from cord blood	blood
19	chr13:95859200-95902200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr13:95860600-95869400	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:95860600-95878000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr13:95860600-95879000	Weak transcription	Fetal Stomach	stomach
23	chr13:95861600-95906200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:95861800-95899000	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr13:95862000-95898200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr13:95862200-95898200	Weak transcription	HSMMtube	muscle
27	chr13:95862400-95879000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:95862600-95871400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:95862600-95874600	Weak transcription	Fetal Intestine Large	intestine
30	chr13:95862800-95878000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr13:95863000-95871600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:95863000-95878200	Weak transcription	Fetal Intestine Small	intestine
33	chr13:95863000-95898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:95863200-95883400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:95863200-95895400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr13:95865600-95872600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:95865800-95871800	Weak transcription	Lung	lung
38	chr13:95865800-95878800	Weak transcription	Left Ventricle	heart
39	chr13:95866000-95871400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:95866000-95874200	Weak transcription	Small Intestine	intestine
41	chr13:95866000-95874400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:95866000-95874400	Weak transcription	NHLF	lung
43	chr13:95866000-95874600	Weak transcription	Spleen	Spleen
44	chr13:95866200-95870200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr13:95866200-95870200	Weak transcription	GM12878-XiMat	blood
46	chr13:95866200-95871400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr13:95866200-95871400	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr13:95866200-95871600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr13:95866200-95874200	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr13:95866200-95874400	Weak transcription	K562	blood

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