Variant report

Variant	nsv872915
Chromosome Location	chr1:195303475-195467306
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:22)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195398482..195401178-chr1:195401687..195404461,3	K562	blood:
2	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
3	chr1:195398482..195401178-chr1:195401687..195404461,3	K562	blood:
4	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
5	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
6	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
7	chr1:195308037..195310638-chr1:195312070..195313866,2	MCF-7	breast:
8	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
9	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
10	chr1:195422390..195425246-chr1:195431885..195433646,2	K562	blood:
11	chr1:195413793..195416066-chr1:195416785..195419173,2	K562	blood:
12	chr1:195311544..195312044-chr17:56756797..56757332,2	Hela-S3	cervix:
13	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
14	chr1:195342786..195345349-chr1:195347109..195348747,2	K562	blood:
15	chr1:195314819..195316810-chr1:195319212..195320954,2	MCF-7	breast:
16	chr1:195361839..195365274-chr1:195369633..195372261,3	K562	blood:
17	chr1:195314819..195316810-chr1:195319212..195320954,2	MCF-7	breast:
18	chr1:195438395..195441122-chr1:195442393..195443903,2	K562	blood:
19	chr1:195442462..195444603-chr1:195444759..195446417,2	MCF-7	breast:
20	chr1:195308037..195310638-chr1:195312070..195313866,2	MCF-7	breast:
21	chr1:195340635..195342790-chr1:195343117..195345385,2	K562	blood:
22	chr1:195385198..195387219-chr1:195683079..195685011,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFH-1	chr1:195450556-195450708	XLOC_000511
2	lnc-KCNT2-4	chr1:195436980-195437187	expReg_chr1_18917_-

No data

Variant related genes	Relation type
ENSG00000200997	chromatin interactions

Extended variants
information (count: 1212 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:1212 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10921835	chr1:195303475-195303476	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs374853777	chr1:195303491-195303492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115134502	chr1:195303522-195303523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61818578	chr1:195303556-195303557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182156180	chr1:195303561-195303562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187943457	chr1:195303591-195303592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577870041	chr1:195303604-195303605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577579365	chr1:195303626-195303627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544985821	chr1:195303657-195303658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554195834	chr1:195303693-195303694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572694765	chr1:195303712-195303713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192383060	chr1:195303729-195303730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377751792	chr1:195303754-195303755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114537050	chr1:195303837-195303838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528983335	chr1:195303843-195303844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140134997	chr1:195303862-195303863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs185295747	chr1:195303870-195303871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573235577	chr1:195303889-195303890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532986685	chr1:195303996-195303997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188556660	chr1:195303999-195304000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193099099	chr1:195304010-195304011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527543991	chr1:195304069-195304070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548910647	chr1:195304085-195304086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567428334	chr1:195304118-195304119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540755477	chr1:195304142-195304143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184915933	chr1:195304189-195304190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549894839	chr1:195304201-195304202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571384129	chr1:195304220-195304221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538692325	chr1:195304221-195304222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554123462	chr1:195304278-195304279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188462461	chr1:195304311-195304312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375972751	chr1:195304327-195304328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536902687	chr1:195304382-195304383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs202134053	chr1:195304386-195304387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548737997	chr1:195304401-195304402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368429562	chr1:195304407-195304408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372289702	chr1:195304414-195304415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16838274	chr1:195304418-195304419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs180925549	chr1:195304445-195304446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544010679	chr1:195304620-195304621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368132943	chr1:195304626-195304627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145534303	chr1:195304675-195304676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6678440	chr1:195304722-195304723	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570256964	chr1:195304729-195304730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574585637	chr1:195304774-195304775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114000072	chr1:195304810-195304811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527614133	chr1:195304879-195304880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549227392	chr1:195304889-195304890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537709100	chr1:195304927-195304928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531428681	chr1:195304991-195304992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Recurrent pregnancy loss	19789632	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195299400-195306000	Weak transcription	Fetal Brain Male	brain
2	chr1:195304800-195305200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr1:195305200-195305600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:195305400-195305600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr1:195305400-195306800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:195305600-195305800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:195305600-195305800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr1:195305600-195306000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr1:195305600-195306000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:195305600-195306200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:195305600-195306400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr1:195305600-195306400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:195305600-195306400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:195305600-195306400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:195305600-195306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:195305600-195306800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:195305600-195307000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:195305800-195306000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:195305800-195306400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr1:195305800-195306400	Enhancers	H9 Cell Line	embryonic stem cell
21	chr1:195305800-195306400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:195305800-195306400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr1:195305800-195307000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:195306000-195306400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr1:195306000-195306400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr1:195306000-195306400	Enhancers	Fetal Brain Male	brain
27	chr1:195306000-195306400	Enhancers	Ovary	ovary
28	chr1:195306000-195306600	Enhancers	Fetal Brain Female	brain
29	chr1:195306200-195307200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr1:195306400-195307000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:195306400-195307000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:195306400-195307200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:195306400-195307200	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:195306400-195307400	Weak transcription	Fetal Brain Male	brain
35	chr1:195306400-195310600	Weak transcription	Ovary	ovary
36	chr1:195306600-195306800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:195306600-195311000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr1:195307000-195310800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:195307000-195310800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:195307200-195307600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr1:195307600-195307800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr1:195307600-195307800	Enhancers	Fetal Brain Male	brain
43	chr1:195307800-195310800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr1:195310600-195311400	Enhancers	Ovary	ovary
45	chr1:195310800-195311400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr1:195310800-195311400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr1:195310800-195311600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr1:195311000-195311400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:195311400-195312600	Weak transcription	Ovary	ovary
50	chr1:195312600-195313200	Enhancers	Ovary	ovary

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