Variant report

Variant	nsv548673
Chromosome Location	chr1:194403573-194445466
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:194425454..194428460-chr1:194432154..194435016,3	K562	blood:
2	chr1:194417615..194420407-chr1:194420472..194422250,2	K562	blood:
3	chr1:194425454..194428460-chr1:194432154..194435016,3	K562	blood:
4	chr1:194417615..194420407-chr1:194420472..194422250,2	K562	blood:
5	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:
6	chr1:194436232..194436752-chr8:43092409..43092930,2	MCF-7	breast:
7	chr1:194425454..194427984-chr1:194432751..194435016,2	K562	blood:
8	chr1:194441258..194442954-chr1:194443825..194445745,2	K562	blood:
9	chr1:194425454..194427984-chr1:194432751..194435016,2	K562	blood:

No data

Extended variants
information (count: 222 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:222 , 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	rs542254545	chr1:194406606-194406607	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs112225661	chr1:194406625-194406626	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs560920554	chr1:194406645-194406646	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs531331703	chr1:194406661-194406662	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs549816018	chr1:194406663-194406664	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs73062887	chr1:194406678-194406679	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75011178	chr1:194406704-194406705	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs112883433	chr1:194406706-194406707	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs547613010	chr1:194406718-194406719	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs566020045	chr1:194406776-194406777	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs536537058	chr1:194406785-194406786	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs529366817	chr1:194411029-194411030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551199799	chr1:194411059-194411060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543763657	chr1:194411063-194411064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569449511	chr1:194411064-194411065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183931476	chr1:194411073-194411074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs532658345	chr1:194411079-194411080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544637200	chr1:194411192-194411193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs559697038	chr1:194411212-194411213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527416395	chr1:194411220-194411221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12068087	chr1:194411267-194411268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374539801	chr1:194411379-194411380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531485278	chr1:194411402-194411403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs12064416	chr1:194411408-194411409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571607926	chr1:194411410-194411411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs12025603	chr1:194411435-194411436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs538915314	chr1:194411570-194411571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137891272	chr1:194411596-194411597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533685452	chr1:194411612-194411613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185113990	chr1:194411620-194411621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs566033575	chr1:194411674-194411675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190115023	chr1:194411690-194411691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555001202	chr1:194411692-194411693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576457792	chr1:194411710-194411711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544035724	chr1:194411711-194411712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557455538	chr1:194411725-194411726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558711716	chr1:194411841-194411842	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs577144854	chr1:194411865-194411866	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs370354912	chr1:194411868-194411869	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs541296660	chr1:194411900-194411901	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs368610928	chr1:194411908-194411909	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs34185324	chr1:194411916-194411917	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs559732118	chr1:194411943-194411944	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs181811897	chr1:194411984-194411985	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542358132	chr1:194412013-194412014	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs144257395	chr1:194412054-194412055	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs551773316	chr1:194412057-194412058	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375219316	chr1:194412098-194412099	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs531295350	chr1:194412121-194412122	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12121722	chr1:194412148-194412149	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:194406600-194406800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:194411000-194413800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:194411400-194411800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:194411400-194412000	Enhancers	Brain Substantia Nigra	brain
5	chr1:194411400-194412200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:194411400-194413400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:194411600-194412000	Enhancers	Brain Angular Gyrus	brain
8	chr1:194411600-194412000	Enhancers	Brain Anterior Caudate	brain
9	chr1:194411600-194412000	Enhancers	Brain Hippocampus Middle	brain
10	chr1:194411600-194412000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr1:194411600-194412400	Enhancers	Brain Germinal Matrix	brain
12	chr1:194411600-194412400	Enhancers	Fetal Brain Female	brain
13	chr1:194411800-194412000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:194412000-194412400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:194412000-194412400	Active TSS	Brain Substantia Nigra	brain
16	chr1:194412000-194412600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:194412000-194412600	Active TSS	Brain Angular Gyrus	brain
18	chr1:194412000-194412800	Active TSS	Brain Anterior Caudate	brain
19	chr1:194412000-194412800	Active TSS	Brain Hippocampus Middle	brain
20	chr1:194412200-194412400	Active TSS	Brain Cingulate Gyrus	brain
21	chr1:194412200-194412600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:194412200-194412600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:194412200-194412600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr1:194412200-194412800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:194412400-194412600	Flanking Active TSS	Brain Cingulate Gyrus	brain
26	chr1:194412400-194412600	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr1:194412400-194413200	Weak transcription	Brain Germinal Matrix	brain
28	chr1:194412600-194412800	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:194412600-194413200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:194412600-194413600	Enhancers	Brain Substantia Nigra	brain
31	chr1:194412600-194413800	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr1:194412800-194413400	Enhancers	Brain Anterior Caudate	brain
33	chr1:194413200-194413400	Enhancers	Brain Germinal Matrix	brain
34	chr1:194413200-194413800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:194413600-194413800	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr1:194437200-194437600	Active TSS	Right Atrium	heart
37	chr1:194443200-194444400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr1:194443200-194444400	Enhancers	Fetal Brain Male	brain
39	chr1:194443200-194445800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr1:194443800-194444200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:194444000-194444200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:194444400-194445400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:194445200-194445800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:194445400-194446800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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