Variant report

Variant	nsv976069
Chromosome Location	chr13:95160348-95162152
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	chr13:95157773..95160608-chr13:95253108..95254690,2	K562	blood:

Variant related genes	Relation type
ENSG00000152749	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536425892	chr13:95160388-95160389	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs537839118	chr13:95160402-95160403	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553172437	chr13:95160432-95160433	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs117529964	chr13:95160454-95160455	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs9561582	chr13:95160494-95160495	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs558222234	chr13:95160517-95160518	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs56081055	chr13:95160552-95160553	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149182065	chr13:95160553-95160554	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs189514498	chr13:95160604-95160605	Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529845370	chr13:95160615-95160616	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs181149307	chr13:95160669-95160670	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs560302205	chr13:95160721-95160722	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs9561583	chr13:95160761-95160762	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs552442239	chr13:95160764-95160765	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs562680744	chr13:95160821-95160822	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs530797366	chr13:95160829-95160830	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs9561584	chr13:95160840-95160841	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567797116	chr13:95160853-95160854	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs186856673	chr13:95160860-95160861	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs536363001	chr13:95160891-95160892	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs142567616	chr13:95160892-95160893	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs369053880	chr13:95160921-95160922	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs9561586	chr13:95160922-95160923	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs559196838	chr13:95160926-95160927	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs113491900	chr13:95160937-95160938	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs576374128	chr13:95160940-95160941	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs541797709	chr13:95161070-95161071	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs539678153	chr13:95161079-95161080	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs147601258	chr13:95161090-95161091	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs75621705	chr13:95161091-95161092	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs142056384	chr13:95161094-95161095	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs540331814	chr13:95161118-95161119	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs560035082	chr13:95161157-95161158	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs191666483	chr13:95161169-95161170	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs545712715	chr13:95161171-95161172	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs562779138	chr13:95161222-95161223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531523110	chr13:95161285-95161286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113740884	chr13:95161437-95161438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550526477	chr13:95161442-95161443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560957620	chr13:95161454-95161455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530089536	chr13:95161461-95161462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145804289	chr13:95161477-95161478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7334716	chr13:95161490-95161491	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs539208927	chr13:95161493-95161494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs560041330	chr13:95161522-95161523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552527390	chr13:95161561-95161562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73557889	chr13:95161571-95161572	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116045242	chr13:95161573-95161574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554555259	chr13:95161614-95161615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7329277	chr13:95161649-95161650	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

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	21811512	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95159000-95160400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr13:95159000-95160400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:95159000-95160400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr13:95159000-95160800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr13:95159000-95161200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr13:95159200-95160400	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr13:95159200-95160800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr13:95159200-95161200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr13:95159600-95160800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr13:95159600-95161800	Enhancers	Dnd41	blood
11	chr13:95159800-95160600	Enhancers	Fetal Thymus	thymus
12	chr13:95159800-95160800	Enhancers	Primary T cells from cord blood	blood
13	chr13:95160600-95161200	Bivalent Enhancer	Fetal Thymus	thymus
14	chr13:95160600-95161200	Bivalent Enhancer	Thymus	Thymus
15	chr13:95160600-95161800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:95161000-95161400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:95161000-95161400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr13:95161400-95166400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:95161600-95166800	Weak transcription	Aorta	Aorta

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