Variant report

Variant	nsv827364
Chromosome Location	chr1:9822732-9825197
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	chr1:9821662..9824159-chr1:9828181..9830598,2	K562	blood:
2	chr1:9815045..9817854-chr1:9822064..9824472,2	K562	blood:

Extended variants
information (count: 102 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370947604	chr1:9822743-9822744	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138307127	chr1:9822754-9822755	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184889402	chr1:9822756-9822757	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567260731	chr1:9822791-9822792	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537817089	chr1:9822801-9822802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549389286	chr1:9822803-9822804	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570941193	chr1:9822827-9822828	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538528332	chr1:9822846-9822847	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553689781	chr1:9822890-9822891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572199020	chr1:9822898-9822899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572114214	chr1:9822899-9822900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576096908	chr1:9822900-9822901	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555790095	chr1:9822911-9822912	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545766447	chr1:9822925-9822926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115484887	chr1:9822990-9822991	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189793618	chr1:9823010-9823011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557849246	chr1:9823017-9823018	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576517595	chr1:9823018-9823019	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78811378	chr1:9823019-9823020	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs202155390	chr1:9823027-9823028	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562847530	chr1:9823076-9823077	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111821010	chr1:9823115-9823116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs180941019	chr1:9823133-9823134	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529456815	chr1:9823145-9823146	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs527848202	chr1:9823181-9823182	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549329262	chr1:9823208-9823209	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541755949	chr1:9823211-9823212	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561012438	chr1:9823237-9823238	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531286229	chr1:9823272-9823273	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549497641	chr1:9823316-9823317	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560040875	chr1:9823317-9823318	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570898579	chr1:9823350-9823351	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532978636	chr1:9823375-9823376	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs538291759	chr1:9823386-9823387	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371813728	chr1:9823407-9823408	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558774721	chr1:9823411-9823412	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185977308	chr1:9823451-9823452	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565845059	chr1:9823469-9823470	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536412755	chr1:9823496-9823497	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554488043	chr1:9823533-9823534	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569859504	chr1:9823583-9823584	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538334290	chr1:9823585-9823586	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117935196	chr1:9823605-9823606	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578037095	chr1:9823627-9823628	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190405125	chr1:9823682-9823683	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116688058	chr1:9823710-9823711	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368955489	chr1:9823713-9823714	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75186073	chr1:9823719-9823720	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551361309	chr1:9823728-9823729	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182045031	chr1:9823732-9823733	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	22429812	CNVD
Epilepsy	22118685	CNVD
Schizophrenia	22118685	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	19490664	CNVD
Ewing''s sarcoma	21437220	CNVD
Prader-willi syndrome	18797701	CNVD
periventricular nodular heterotopia	20648244	CNVD
1p36 deletion syndrome	22283845	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Neuroblastoma	18923524	CNVD
Retinoblastoma	22278416	CNVD
Mental retardation	20152051	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Astrocytoma	17934521	CNVD
Glioblastoma	20031968	CNVD
Acute myeloid leukemia	18000384	CNVD
Glioblastoma multiforme	16951158	CNVD
Neuroblastoma	18574593	CNVD
Glioblastoma multiforme	17369134	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Myoepithelioma	18604193	CNVD
Wilms tumour	19047088	CNVD
Breast cancer	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Neuroblastoma	18923191	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	20406844	CNVD
Glioblastoma multiforme	21138945	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian neoplasms	16753589	CNVD
Neuroblastoma	19287153	CNVD
Hepatocellular carcinoma	18929564	CNVD
Melanoma	17363583	CNVD
renal disease	17924346	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Uveal melanoma	20484589	CNVD
Multiple myeloma	16616336	CNVD
Glioblastoma multiforme	22286061	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801200-9837800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
3	chr1:9804400-9836600	Weak transcription	Small Intestine	intestine
4	chr1:9804600-9836600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr1:9806400-9825800	Weak transcription	HSMMtube	muscle
6	chr1:9810000-9832400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:9810200-9825800	Weak transcription	NHDF-Ad	bronchial
8	chr1:9810200-9826000	Weak transcription	Hela-S3	cervix
9	chr1:9810200-9826000	Weak transcription	HSMM	muscle
10	chr1:9810200-9829200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:9810400-9825800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:9811600-9832400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr1:9811600-9832400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:9811800-9832400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
16	chr1:9812000-9826200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:9812400-9832200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:9812600-9829000	Weak transcription	Stomach Mucosa	stomach
19	chr1:9812800-9831000	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:9813400-9829000	Weak transcription	Colonic Mucosa	Colon
21	chr1:9813400-9830400	Weak transcription	GM12878-XiMat	blood
22	chr1:9813600-9823600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:9813600-9824800	Weak transcription	Osteobl	bone
24	chr1:9813600-9825400	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:9813600-9825800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:9813600-9831800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:9813600-9832400	Weak transcription	Right Ventricle	heart
28	chr1:9813800-9832400	Weak transcription	Adipose Nuclei	Adipose
29	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
30	chr1:9814000-9823600	Weak transcription	Lung	lung
31	chr1:9814200-9823400	Weak transcription	Spleen	Spleen
32	chr1:9814200-9827000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:9815200-9823200	Weak transcription	Duodenum Mucosa	Duodenum
34	chr1:9815400-9823400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:9815400-9824000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:9815400-9824400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:9815400-9826000	Weak transcription	A549	lung
38	chr1:9815400-9829200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:9815400-9831600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr1:9815400-9832400	Weak transcription	Fetal Intestine Large	intestine
41	chr1:9815400-9832600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:9815600-9829600	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:9815600-9830800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:9815800-9823400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:9816200-9823400	Weak transcription	Primary T cells from cord blood	blood
46	chr1:9816200-9826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:9816400-9824800	Weak transcription	NH-A	brain
48	chr1:9816400-9831800	Weak transcription	Brain Germinal Matrix	brain
49	chr1:9816600-9824400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:9816600-9842400	Weak transcription	HUVEC	blood vessel

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