Variant report

Variant	nsv548729
Chromosome Location	chr1:195852133-195866450
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
2	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
3	chr1:195854670..195856185-chr1:195857598..195860308,2	K562	blood:
4	chr1:195859567..195862131-chr1:195863598..195866284,2	K562	blood:
5	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
6	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
7	chr1:195837170..195839918-chr1:195861015..195863064,2	K562	blood:
8	chr1:195845594..195848428-chr1:195851192..195853399,2	K562	blood:
9	chr1:195845835..195848707-chr1:195860208..195862083,2	K562	blood:
10	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
11	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
12	chr1:195851101..195853777-chr1:195856895..195858997,3	K562	blood:
13	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
14	chr1:195862339..195864260-chr1:195865555..195867697,3	K562	blood:
15	chr1:195845835..195848328-chr1:195860583..195862092,2	K562	blood:
16	chr1:195857673..195860102-chr1:195861318..195863869,3	K562	blood:
17	chr1:195834331..195836964-chr1:195857452..195860455,3	K562	blood:

No data

Extended variants
information (count: 322 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565250818	chr1:195855413-195855414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532412933	chr1:195855455-195855456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs34922680	chr1:195855463-195855464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188851276	chr1:195855471-195855472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547866802	chr1:195855480-195855481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561615760	chr1:195855515-195855516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373265469	chr1:195855520-195855521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549223873	chr1:195855528-195855529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529271953	chr1:195855536-195855537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs563435997	chr1:195855538-195855539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530730332	chr1:195855583-195855584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs66479711	chr1:195855600-195855601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538107835	chr1:195855656-195855657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530763536	chr1:195855663-195855664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550515928	chr1:195855678-195855679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577518660	chr1:195855780-195855781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113488418	chr1:195855790-195855791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553441828	chr1:195855818-195855819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147443453	chr1:195855828-195855829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138194122	chr1:195855856-195855857	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193289927	chr1:195855868-195855869	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1376807	chr1:195855886-195855887	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs6696885	chr1:195855900-195855901	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs565444700	chr1:195855925-195855926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532537917	chr1:195855942-195855943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6659459	chr1:195855996-195855997	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559860367	chr1:195856030-195856031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530187654	chr1:195856056-195856057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185471785	chr1:195856064-195856065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71567566	chr1:195856113-195856114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188845738	chr1:195856141-195856142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111704972	chr1:195856143-195856144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs370043993	chr1:195856147-195856148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149525217	chr1:195856174-195856175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550046005	chr1:195856177-195856178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571491109	chr1:195856195-195856196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2923885	chr1:195856224-195856225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs144040238	chr1:195856264-195856265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192125103	chr1:195856355-195856356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184213253	chr1:195856429-195856430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373367107	chr1:195856442-195856443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188562381	chr1:195856465-195856466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180926394	chr1:195856495-195856496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565360096	chr1:195856499-195856500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535910476	chr1:195856547-195856548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554255689	chr1:195856551-195856552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10801486	chr1:195856591-195856592	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548476102	chr1:195856623-195856624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559196948	chr1:195856693-195856694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574683008	chr1:195856699-195856700	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195855400-195855800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:195855400-195855800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr1:195855400-195855800	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr1:195855400-195856000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:195855400-195856000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:195855800-195858200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:195858200-195858800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:195862800-195864200	Enhancers	K562	blood
9	chr1:195863000-195863200	Enhancers	Aorta	Aorta
10	chr1:195863200-195864000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr1:195863200-195864200	Enhancers	Fetal Heart	heart
12	chr1:195863200-195864200	Enhancers	HMEC	breast
13	chr1:195863200-195864400	Enhancers	Left Ventricle	heart
14	chr1:195863400-195864400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:195863400-195864400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:195863600-195864000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr1:195863600-195864000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:195863600-195864200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:195863600-195864200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:195863800-195864200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:195863800-195864200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:195864200-195866400	Weak transcription	K562	blood
23	chr1:195864200-195868800	Weak transcription	HMEC	breast
24	chr1:195864400-195868800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:195864400-195869000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:195866400-195866600	Enhancers	K562	blood

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