Variant report

Variant	nsv872944
Chromosome Location	chr1:195826738-195853219
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
2	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
3	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
4	chr1:195836992..195839913-chr1:195867616..195871581,4	K562	blood:
5	chr1:195793131..195796113-chr1:195827514..195829536,2	K562	blood:
6	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
7	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
8	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
9	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
10	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
11	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:
12	chr1:195835454..195837543-chr1:195844667..195847639,2	K562	blood:
13	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
14	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
15	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
16	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:
17	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
18	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
19	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
20	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
21	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
22	chr1:195817026..195821248-chr1:195822021..195827460,5	K562	blood:

No data

Extended variants
information (count: 467 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6679891	chr1:195826738-195826739	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139860217	chr1:195826753-195826754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143227605	chr1:195826765-195826766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372774853	chr1:195826800-195826801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35995198	chr1:195826841-195826842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568430186	chr1:195826861-195826862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561123729	chr1:195826891-195826892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531639914	chr1:195826892-195826893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549798354	chr1:195826928-195826929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571260616	chr1:195826946-195826947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10921961	chr1:195827059-195827060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs192975510	chr1:195827092-195827093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144443757	chr1:195827129-195827130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536814942	chr1:195827191-195827192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184673437	chr1:195827202-195827203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570014199	chr1:195827282-195827283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115605236	chr1:195827304-195827305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558515160	chr1:195827347-195827348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577194895	chr1:195827349-195827350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142981836	chr1:195827407-195827408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7411386	chr1:195827411-195827412	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs4475728	chr1:195827427-195827428	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79494918	chr1:195827487-195827488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4345788	chr1:195827522-195827523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs4256794	chr1:195827549-195827550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543772880	chr1:195827554-195827555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565055697	chr1:195827560-195827561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532098316	chr1:195827610-195827611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4548419	chr1:195827678-195827679	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73071048	chr1:195827700-195827701	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs142563832	chr1:195827717-195827718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4330904	chr1:195827722-195827723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79968923	chr1:195827726-195827727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537327947	chr1:195827742-195827743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs116753278	chr1:195827749-195827750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571071253	chr1:195827752-195827753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534974510	chr1:195827786-195827787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374701967	chr1:195827804-195827805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368793189	chr1:195827816-195827817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538605083	chr1:195827817-195827818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553092956	chr1:195827825-195827826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73071050	chr1:195827847-195827848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542382914	chr1:195827852-195827853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554788431	chr1:195827893-195827894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576278022	chr1:195827900-195827901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4415544	chr1:195827908-195827909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537624200	chr1:195827943-195827944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4402108	chr1:195827962-195827963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs189650685	chr1:195828035-195828036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541021243	chr1:195828084-195828085	Weak transcription	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
Neuroblastoma	20406844	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195821600-195835200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:195832800-195833200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:195832800-195833600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:195833200-195833600	Enhancers	K562	blood
5	chr1:195833600-195834600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:195833600-195836600	Active TSS	K562	blood
7	chr1:195834600-195835600	Enhancers	Fetal Brain Male	brain
8	chr1:195834600-195835800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:195834800-195835000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:195835000-195835600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:195835200-195835800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr1:195835200-195835800	Enhancers	Brain Substantia Nigra	brain
13	chr1:195835600-195835800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:195835800-195837400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr1:195836600-195837000	Enhancers	K562	blood
16	chr1:195841400-195841800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:195849000-195849400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:195849000-195849400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr1:195849000-195849400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:195849000-195849400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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