Variant report

Variant	nsv947213
Chromosome Location	chr1:196456820-196460426
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:196456315..196458347-chr1:196459943..196462362,2	K562	blood:
2	chr1:196440873..196444078-chr1:196452789..196457047,3	K562	blood:
3	chr1:196459854..196461920-chr1:196498611..196500836,2	K562	blood:
4	chr1:196450695..196453991-chr1:196455427..196457877,3	K562	blood:
5	chr1:196456315..196458347-chr1:196459943..196462362,2	K562	blood:
6	chr1:196448856..196453298-chr1:196454594..196458706,6	K562	blood:
7	chr1:196458697..196461420-chr1:196463118..196465418,4	K562	blood:
8	chr1:196448595..196456381-chr1:196458214..196462920,9	K562	blood:

No data

Extended variants
information (count: 110 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7511869	chr1:196456822-196456823	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554743805	chr1:196456848-196456849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545127535	chr1:196456862-196456863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559880501	chr1:196456962-196456963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs532595625	chr1:196456965-196456966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188601338	chr1:196456971-196456972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549672662	chr1:196456987-196456988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74614622	chr1:196457096-196457097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368307971	chr1:196457154-196457155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114235472	chr1:196457163-196457164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181134146	chr1:196457187-196457188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184498625	chr1:196457232-196457233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372576605	chr1:196457271-196457272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571858154	chr1:196457272-196457273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112432752	chr1:196457315-196457316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547896839	chr1:196457355-196457356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565707258	chr1:196457362-196457363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72732257	chr1:196457375-196457376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs555202229	chr1:196457379-196457380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573599334	chr1:196457408-196457409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535008112	chr1:196457497-196457498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538184065	chr1:196457518-196457519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189171387	chr1:196457537-196457538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577804204	chr1:196457566-196457567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182561161	chr1:196457589-196457590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553934101	chr1:196457602-196457603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375257668	chr1:196457604-196457605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187133828	chr1:196457608-196457609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561987351	chr1:196457650-196457651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369578947	chr1:196457666-196457667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142214058	chr1:196457745-196457746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189185568	chr1:196457751-196457752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532041744	chr1:196457770-196457771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544136865	chr1:196458057-196458058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371355665	chr1:196458078-196458079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568451814	chr1:196458167-196458168	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146125339	chr1:196458240-196458241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529264169	chr1:196458258-196458259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs147858652	chr1:196458273-196458274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142332274	chr1:196458276-196458277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537141640	chr1:196458284-196458285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557478779	chr1:196458330-196458331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565844215	chr1:196458368-196458369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs576201082	chr1:196458369-196458370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs548172027	chr1:196458370-196458371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569754584	chr1:196458430-196458431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7552572	chr1:196458438-196458439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556451842	chr1:196458443-196458444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7541165	chr1:196458505-196458506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs538845468	chr1:196458594-196458595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
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
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196420000-196460800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:196434200-196459200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:196434600-196459600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:196436400-196485200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:196437400-196467800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:196447400-196458200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:196447800-196468000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr1:196448400-196457600	Weak transcription	Fetal Kidney	kidney
9	chr1:196450000-196459800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:196450600-196462200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:196451200-196462200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr1:196451400-196467600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:196452800-196471200	Weak transcription	Liver	Liver
14	chr1:196454400-196467400	Weak transcription	Ovary	ovary
15	chr1:196457600-196458400	Enhancers	Fetal Kidney	kidney
16	chr1:196457800-196458600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:196458200-196458600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:196459200-196461200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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