Variant report

Variant	nsv549785
Chromosome Location	chr10:1281806-1282372
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377292831	chr10:1281808-1281809	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369900370	chr10:1281822-1281823	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs202011540	chr10:1281830-1281831	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373314742	chr10:1281835-1281836	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375706506	chr10:1281836-1281837	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs370296223	chr10:1281848-1281849	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200070123	chr10:1281854-1281855	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs374255641	chr10:1281859-1281860	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs376579677	chr10:1281860-1281861	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs200668526	chr10:1281872-1281873	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs374320180	chr10:1281883-1281884	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs201211362	chr10:1281902-1281903	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs368183582	chr10:1281907-1281908	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs371263301	chr10:1281908-1281909	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs62650666	chr10:1281909-1281910	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs376340156	chr10:1281920-1281921	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs111164678	chr10:1281928-1281929	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs371513715	chr10:1281944-1281945	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs542764086	chr10:1281947-1281948	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs375793417	chr10:1281952-1281953	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111164679	chr10:1281955-1281956	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs371995481	chr10:1281956-1281957	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201584901	chr10:1281968-1281969	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552575421	chr10:1281970-1281971	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111108181	chr10:1281979-1281980	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs373129526	chr10:1281980-1281981	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs375517421	chr10:1281992-1281993	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs370020967	chr10:1282000-1282001	Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs372662269	chr10:1282003-1282004	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs376892043	chr10:1282024-1282025	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs202240521	chr10:1282044-1282045	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs199972804	chr10:1282052-1282053	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs111218111	chr10:1282061-1282062	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs370532236	chr10:1282065-1282066	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs373225657	chr10:1282073-1282074	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs62650667	chr10:1282076-1282077	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs371087114	chr10:1282089-1282090	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs111164681	chr10:1282097-1282098	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs368612177	chr10:1282100-1282101	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs62642831	chr10:1282101-1282102	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs202120559	chr10:1282113-1282114	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs111164682	chr10:1282121-1282122	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs62650668	chr10:1282124-1282125	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs111163716	chr10:1282125-1282126	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs111163717	chr10:1282137-1282138	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs375051709	chr10:1282145-1282146	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs113572568	chr10:1282148-1282149	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs113433184	chr10:1282161-1282162	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs75429916	chr10:1282169-1282170	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs76443545	chr10:1282172-1282173	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1277000-1282400	Weak transcription	Primary B cells from cord blood	blood
2	chr10:1279400-1282200	Weak transcription	Dnd41	blood
3	chr10:1280400-1282600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:1280800-1282000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr10:1280800-1282800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr10:1281000-1282200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr10:1281000-1282600	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr10:1281000-1282800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr10:1281200-1282000	ZNF genes & repeats	Lung	lung
10	chr10:1281200-1282600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:1281200-1282600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:1281200-1282600	Active TSS	Pancreas	Pancrea
13	chr10:1281400-1282000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr10:1281400-1282400	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr10:1281400-1282400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
16	chr10:1281400-1282600	Active TSS	H9 Cell Line	embryonic stem cell
17	chr10:1281400-1282600	Active TSS	Brain Angular Gyrus	brain
18	chr10:1281400-1282600	Weak transcription	Gastric	stomach
19	chr10:1281400-1282800	Active TSS	Brain Cingulate Gyrus	brain
20	chr10:1281600-1282200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr10:1281600-1282200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr10:1281600-1282400	Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr10:1281600-1282400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr10:1281600-1282400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr10:1281600-1282400	Weak transcription	Spleen	Spleen
26	chr10:1281600-1282600	Active TSS	H1 Cell Line	embryonic stem cell
27	chr10:1281600-1282600	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr10:1281600-1282600	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr10:1281600-1282600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr10:1281600-1282600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:1281600-1282600	Active TSS	Primary T cells from cord blood	blood
32	chr10:1281600-1282600	Active TSS	Brain Inferior Temporal Lobe	brain
33	chr10:1281600-1282600	Active TSS	Brain Substantia Nigra	brain
34	chr10:1281600-1282600	Active TSS	HSMM	muscle
35	chr10:1281600-1283000	Active TSS	Brain Anterior Caudate	brain
36	chr10:1281800-1282000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr10:1281800-1282200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr10:1281800-1282200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr10:1281800-1282200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr10:1281800-1282400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:1281800-1282600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:1281800-1287800	Weak transcription	Right Atrium	heart
43	chr10:1282000-1282400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
44	chr10:1282000-1282400	Weak transcription	Fetal Thymus	thymus
45	chr10:1282000-1282600	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr10:1282000-1282600	Active TSS	Fetal Kidney	kidney
47	chr10:1282000-1283200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
48	chr10:1282000-1283400	Weak transcription	Lung	lung
49	chr10:1282200-1282400	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
50	chr10:1282200-1282400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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