Variant report

Variant	nsv548714
Chromosome Location	chr1:195247438-195303475
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
2	chr1:195270062..195272293-chr1:195296328..195299059,2	MCF-7	breast:
3	chr1:195262020..195263706-chr1:195272247..195274831,2	K562	blood:
4	chr1:195270062..195272293-chr1:195296328..195299059,2	MCF-7	breast:

Extended variants
information (count: 248 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564353369	chr1:195258605-195258606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529182418	chr1:195258626-195258627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148939726	chr1:195258696-195258697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184388635	chr1:195258699-195258700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143648249	chr1:195258779-195258780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529516677	chr1:195258835-195258836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189271060	chr1:195258847-195258848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536931128	chr1:195258848-195258849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180850533	chr1:195258859-195258860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552225627	chr1:195258891-195258892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570384953	chr1:195258929-195258930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138774924	chr1:195258941-195258942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs141876620	chr1:195258973-195258974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574344918	chr1:195258995-195258996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75658286	chr1:195259000-195259001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10921831	chr1:195259028-195259029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575075229	chr1:195259075-195259076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs80214523	chr1:195259087-195259088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116954666	chr1:195259107-195259108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs185819796	chr1:195259112-195259113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs540576315	chr1:195259134-195259135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534510623	chr1:195259306-195259307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376666358	chr1:195259325-195259326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117255946	chr1:195296243-195296244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs56060102	chr1:195296297-195296298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs376093231	chr1:195296305-195296306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370432222	chr1:195296331-195296332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572077698	chr1:195296394-195296395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74867395	chr1:195296420-195296421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535325616	chr1:195296430-195296431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576672798	chr1:195296436-195296437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543700778	chr1:195296469-195296470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141660584	chr1:195296475-195296476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147050748	chr1:195296497-195296498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183449473	chr1:195296510-195296511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186224718	chr1:195296534-195296535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190636435	chr1:195296550-195296551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553436834	chr1:195296621-195296622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527320627	chr1:195296686-195296687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574927701	chr1:195296722-195296723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148090102	chr1:195296740-195296741	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567495515	chr1:195296752-195296753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370753742	chr1:195296757-195296758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141836093	chr1:195296785-195296786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs549907619	chr1:195296817-195296818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556984079	chr1:195296831-195296832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182810653	chr1:195297014-195297015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10754137	chr1:195297127-195297128	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs538766783	chr1:195297198-195297199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545522893	chr1:195297211-195297212	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	20688739	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195258600-195259000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr1:195258800-195259400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:195259000-195259400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:195259000-195259400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr1:195296200-195297000	Enhancers	Placenta Amnion	Placenta Amnion
6	chr1:195296400-195298800	Enhancers	Liver	Liver
7	chr1:195296600-195297400	Enhancers	Fetal Heart	heart
8	chr1:195296800-195298600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:195297200-195297400	Enhancers	Adipose Nuclei	Adipose
10	chr1:195297200-195297600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:195297200-195297600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr1:195297200-195297600	Enhancers	Ovary	ovary
13	chr1:195297200-195298200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr1:195297400-195298000	Weak transcription	Adipose Nuclei	Adipose
15	chr1:195297600-195298600	Weak transcription	Ovary	ovary
16	chr1:195298000-195298800	Enhancers	Adipose Nuclei	Adipose
17	chr1:195298600-195298800	Enhancers	Ovary	ovary
18	chr1:195298800-195299000	Weak transcription	Ovary	ovary
19	chr1:195299200-195299400	Active TSS	Fetal Brain Male	brain
20	chr1:195299400-195306000	Weak transcription	Fetal Brain Male	brain

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