Variant report

Variant	esv3693404
Chromosome Location	chr13:95999739-96027408
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	chr13:96010392..96012474-chr13:96022109..96025076,2	K562	blood:
2	chr13:96010392..96012474-chr13:96022109..96025076,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ABCC4-2	chr13:96003796-96003967	NONHSAT034758

Extended variants
information (count: 1032 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1032 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528541317	chr13:95999875-95999876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551764810	chr13:95999912-95999913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs571941807	chr13:95999942-95999943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187097507	chr13:96000014-96000015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557553891	chr13:96000027-96000028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs72647171	chr13:96000028-96000029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535934514	chr13:96000091-96000092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191600837	chr13:96000129-96000130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145133696	chr13:96000140-96000141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143929523	chr13:96000174-96000175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1620972	chr13:96000178-96000179	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs553744780	chr13:96001255-96001256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566400935	chr13:96001256-96001257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191507738	chr13:96001261-96001262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183700879	chr13:96001279-96001280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12584768	chr13:96001280-96001281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537866030	chr13:96001308-96001309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9524936	chr13:96001330-96001331	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs9524937	chr13:96001349-96001350	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs533945124	chr13:96001363-96001364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs375820069	chr13:96001370-96001371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554011958	chr13:96001383-96001384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146487763	chr13:96001421-96001422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9516568	chr13:96001474-96001475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35485341	chr13:96001511-96001512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs397941631	chr13:96001521-96001522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188808258	chr13:96001532-96001533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544738452	chr13:96001534-96001535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75506486	chr13:96001612-96001613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544216864	chr13:96001639-96001640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561219701	chr13:96001677-96001678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372302381	chr13:96001698-96001699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180910672	chr13:96001778-96001779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375780120	chr13:96001782-96001783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186290505	chr13:96001796-96001797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190622925	chr13:96001840-96001841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560730935	chr13:96001860-96001861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532641114	chr13:96001863-96001864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182293756	chr13:96001871-96001872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10508014	chr13:96001873-96001874	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs4400910	chr13:96001901-96001902	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs548229684	chr13:96001947-96001948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527609004	chr13:96001948-96001949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547308805	chr13:96001949-96001950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542462053	chr13:96001979-96001980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4473044	chr13:96001982-96001983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4471542	chr13:96001990-96001991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs553828295	chr13:96001996-96001997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373744758	chr13:96002030-96002031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9516569	chr13:96002048-96002049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

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
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95999800-96000200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:95999800-96000200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:96001200-96001800	Enhancers	Psoas Muscle	Psoas
4	chr13:96001400-96001800	Enhancers	K562	blood
5	chr13:96001600-96002000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr13:96001800-96005800	Weak transcription	K562	blood
7	chr13:96003800-96004200	Enhancers	HepG2	liver
8	chr13:96004200-96004600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:96004200-96006800	Weak transcription	HepG2	liver
10	chr13:96004400-96005200	Enhancers	Hela-S3	cervix
11	chr13:96004600-96005200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:96005000-96005400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:96005200-96008000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:96005400-96007000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:96005800-96006200	Enhancers	HMEC	breast
16	chr13:96005800-96007000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr13:96005800-96007000	Enhancers	K562	blood
18	chr13:96006000-96008000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr13:96006000-96008200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:96006000-96008400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr13:96006200-96007200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:96006400-96009600	Enhancers	Liver	Liver
23	chr13:96006600-96007000	Enhancers	Brain Hippocampus Middle	brain
24	chr13:96006600-96007400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:96006600-96008000	Enhancers	Brain Anterior Caudate	brain
26	chr13:96006600-96008200	Enhancers	Stomach Mucosa	stomach
27	chr13:96006800-96007200	Enhancers	Brain Angular Gyrus	brain
28	chr13:96006800-96007400	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr13:96006800-96007600	Enhancers	HepG2	liver
30	chr13:96006800-96008000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr13:96006800-96008000	Enhancers	Brain Substantia Nigra	brain
32	chr13:96006800-96008200	Enhancers	HUVEC	blood vessel
33	chr13:96006800-96008400	Enhancers	Fetal Stomach	stomach
34	chr13:96007000-96007400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:96007000-96007400	Enhancers	Brain Germinal Matrix	brain
36	chr13:96007000-96007400	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr13:96007000-96007400	Enhancers	Colon Smooth Muscle	Colon
38	chr13:96007000-96007400	Enhancers	Gastric	stomach
39	chr13:96007000-96008200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:96007000-96008200	Enhancers	Fetal Kidney	kidney
41	chr13:96007000-96008200	Enhancers	Fetal Lung	lung
42	chr13:96007000-96008400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr13:96007000-96009600	Weak transcription	K562	blood
44	chr13:96007200-96007600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr13:96007200-96007800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:96007200-96007800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr13:96007200-96007800	Enhancers	Brain Cingulate Gyrus	brain
48	chr13:96007200-96008200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:96007200-96008400	Enhancers	NH-A	brain
50	chr13:96007400-96007800	Enhancers	Brain Hippocampus Middle	brain

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