Variant report

Variant	nsv945275
Chromosome Location	chr1:211031192-211034638
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211034097..211035602-chr11:9405126..9407786,2	MCF-7	breast:
2	chr1:211034100..211037099-chr11:9405144..9407454,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205339	chromatin interactions

Extended variants
information (count: 146 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:146 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188800262	chr1:211031193-211031194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181651332	chr1:211031223-211031224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184621340	chr1:211031249-211031250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560431598	chr1:211031272-211031273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527475820	chr1:211031292-211031293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190562420	chr1:211031293-211031294	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180844775	chr1:211031294-211031295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531401142	chr1:211031323-211031324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572507581	chr1:211031375-211031376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142436805	chr1:211031420-211031421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185785346	chr1:211031482-211031483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533021184	chr1:211031503-211031504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529589639	chr1:211031528-211031529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546421880	chr1:211031586-211031587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146471542	chr1:211031601-211031602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191033545	chr1:211031603-211031604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191185223	chr1:211031636-211031637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372839745	chr1:211031661-211031662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs28437057	chr1:211031669-211031670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570063051	chr1:211031699-211031700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537508361	chr1:211031724-211031725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181170887	chr1:211031770-211031771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4951668	chr1:211031776-211031777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564911935	chr1:211031804-211031805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112742345	chr1:211031830-211031831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369491813	chr1:211031850-211031851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs184815671	chr1:211031889-211031890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542177063	chr1:211031902-211031903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35843728	chr1:211031909-211031910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554084673	chr1:211031910-211031911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148869676	chr1:211031917-211031918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185769883	chr1:211031935-211031936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190585404	chr1:211031939-211031940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369702401	chr1:211032001-211032002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531307840	chr1:211032010-211032011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532402972	chr1:211032025-211032026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543109853	chr1:211032037-211032038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs375391515	chr1:211032039-211032040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561386138	chr1:211032098-211032099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528837711	chr1:211032105-211032106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546960242	chr1:211032143-211032144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559812210	chr1:211032155-211032156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4245747	chr1:211032194-211032195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551688666	chr1:211032341-211032342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs570229966	chr1:211032354-211032355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537192670	chr1:211032375-211032376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs4504958	chr1:211032390-211032391	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs551731520	chr1:211032391-211032392	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs373048563	chr1:211032401-211032402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535035922	chr1:211032428-211032429	Weak transcription 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
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
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
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
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Macular degeneration	22558131	CNVD
Alzheimer''s disease	21403675	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	17060936	CNVD
Atypical hemolytic uremic syndrome	19861685	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211024800-211035400	Weak transcription	HSMM	muscle
2	chr1:211024800-211046800	Weak transcription	HSMMtube	muscle
3	chr1:211027000-211035400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211029800-211032600	Enhancers	Brain Cingulate Gyrus	brain
5	chr1:211030400-211031200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:211030400-211031400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:211030400-211031400	Enhancers	Brain Anterior Caudate	brain
8	chr1:211030400-211031600	Enhancers	Brain Hippocampus Middle	brain
9	chr1:211030400-211031800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:211030400-211032000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:211030600-211031400	Enhancers	Brain Substantia Nigra	brain
12	chr1:211030600-211032000	Enhancers	Brain Angular Gyrus	brain
13	chr1:211030800-211031400	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr1:211031000-211031400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:211031000-211031400	Enhancers	A549	lung
16	chr1:211031400-211035400	Weak transcription	Brain Anterior Caudate	brain
17	chr1:211032000-211033000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:211033000-211034200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:211033200-211033600	Enhancers	Placenta	Placenta

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