Variant report

Variant	nsv548701
Chromosome Location	chr1:194867910-194910364
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:194830443..194832725-chr1:194885679..194888143,2	K562	blood:
2	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
3	chr1:194827292..194830199-chr1:194885354..194888376,3	K562	blood:
4	chr1:194883565..194884392-chr3:64008754..64009520,2	MCF-7	breast:
5	chr1:194894090..194896590-chr1:194908541..194910307,2	MCF-7	breast:
6	chr1:194864008..194866177-chr1:194870859..194873394,2	K562	blood:

Variant related genes	Relation type
ENSG00000163636	chromatin interactions

Extended variants
information (count: 238 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:238 , 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	rs564719189	chr1:194883594-194883595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191471161	chr1:194883627-194883628	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375454399	chr1:194883642-194883643	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs34563448	chr1:194883711-194883712	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547452180	chr1:194883714-194883715	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs566187108	chr1:194883733-194883734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536207151	chr1:194883741-194883742	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs566104	chr1:194883749-194883750	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs575772692	chr1:194883754-194883755	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs183266769	chr1:194883773-194883774	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7536807	chr1:194883776-194883777	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535375862	chr1:194883777-194883778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140223742	chr1:194883783-194883784	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577476853	chr1:194883790-194883791	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61816817	chr1:194883805-194883806	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540662539	chr1:194883825-194883826	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs572115304	chr1:194883829-194883830	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs367869382	chr1:194883841-194883842	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372040892	chr1:194883997-194883998	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs145649611	chr1:194883999-194884000	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560938845	chr1:194884011-194884012	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs118008868	chr1:194884036-194884037	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543301090	chr1:194884045-194884046	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564851743	chr1:194884075-194884076	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532148236	chr1:194884076-194884077	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs367644623	chr1:194884077-194884078	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs147730966	chr1:194884287-194884288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530207311	chr1:194884344-194884345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529626507	chr1:194884353-194884354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556805	chr1:194886636-194886637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs116824931	chr1:194886675-194886676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374128173	chr1:194886707-194886708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10127701	chr1:194886957-194886958	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140450309	chr1:194887005-194887006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145558557	chr1:194887030-194887031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557189526	chr1:194887096-194887097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575538950	chr1:194887120-194887121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573800645	chr1:194887130-194887131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546304969	chr1:194887131-194887132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564588277	chr1:194887157-194887158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573162778	chr1:194887272-194887273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540273766	chr1:194887275-194887276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562368776	chr1:194887316-194887317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187130075	chr1:194887328-194887329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550910677	chr1:194887360-194887361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76090175	chr1:194887393-194887394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76029674	chr1:194887409-194887410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150119073	chr1:194887454-194887455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116016867	chr1:194887497-194887498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76860475	chr1:194887501-194887502	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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194886600-194887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:194886800-194887200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:194887200-194888200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:194887200-194888200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:194888000-194888800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:194888200-194888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:194888200-194888800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:194888400-194888600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:194888400-194888800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:194898400-194899400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:194899400-194900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:194900200-194900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:194908600-194910800	Enhancers	Fetal Brain Male	brain
14	chr1:194908800-194910000	Enhancers	Fetal Brain Female	brain
15	chr1:194910000-194910400	Weak transcription	Fetal Brain Female	brain

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