Variant report

Variant	nsv548663
Chromosome Location	chr1:193847597-193901506
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:193426910..193427495-chr1:193888652..193889585,2	MCF-7	breast:
2	chr1:193900151..193902941-chr1:193904625..193907312,2	K562	blood:
3	chr1:193849623..193852343-chr1:193862165..193864487,2	K562	blood:
4	chr1:193849623..193852343-chr1:193862165..193864487,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDC73-10	chr1:193868417-193868763	NONHSAT008576
2	lnc-CDC73-10	chr1:193855454-193855547	NONHSAT008576
3	lnc-CDC73-11	chr1:193879218-193879294	NONHSAT008577
4	lnc-CDC73-11	chr1:193894657-193894745	NONHSAT008577

No data

Extended variants
information (count: 539 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:539 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562941687	chr1:193854206-193854207	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs149814960	chr1:193854218-193854219	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs542104537	chr1:193854234-193854235	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs2182702	chr1:193854243-193854244	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79843977	chr1:193854254-193854255	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs547939023	chr1:193854256-193854257	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs111667919	chr1:193854270-193854271	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs202089556	chr1:193854271-193854272	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371260471	chr1:193854321-193854322	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs570857855	chr1:193854347-193854348	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533458606	chr1:193854365-193854366	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550236832	chr1:193854403-193854404	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs472221	chr1:193854440-193854441	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs190634748	chr1:193854513-193854514	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs372976403	chr1:193854551-193854552	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs549319854	chr1:193854556-193854557	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs562442811	chr1:193854615-193854616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565931697	chr1:193854624-193854625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs182141036	chr1:193854704-193854705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146817848	chr1:193854776-193854777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577712135	chr1:193854783-193854784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35759142	chr1:193854798-193854799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186815448	chr1:193854822-193854823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556575128	chr1:193854823-193854824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573280881	chr1:193854826-193854827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542191683	chr1:193854831-193854832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562262114	chr1:193854840-193854841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545391286	chr1:193854858-193854859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544836756	chr1:193854869-193854870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541307366	chr1:193854870-193854871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191655557	chr1:193854875-193854876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs182436138	chr1:193854896-193854897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185401970	chr1:193854901-193854902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190260276	chr1:193854909-193854910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs529321257	chr1:193854914-193854915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs74131190	chr1:193854935-193854936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182194726	chr1:193854953-193854954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs611732	chr1:193854980-193854981	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187602667	chr1:193855002-193855003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs193211079	chr1:193855132-193855133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556661830	chr1:193855160-193855161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573370541	chr1:193855165-193855166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12136700	chr1:193855170-193855171	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs183933562	chr1:193855198-193855199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572687357	chr1:193855252-193855253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541694120	chr1:193855303-193855304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542920908	chr1:193855334-193855335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs564552557	chr1:193855464-193855465	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs114982770	chr1:193855465-193855466	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs543998560	chr1:193855511-193855512	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193854200-193854600	Active TSS	HepG2	liver
2	chr1:193854200-193854800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:193854400-193855800	Enhancers	Fetal Lung	lung
4	chr1:193855200-193855600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:193857800-193858200	Enhancers	Ovary	ovary
6	chr1:193872200-193873400	Enhancers	Fetal Heart	heart
7	chr1:193874200-193875800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:193874600-193875200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:193874800-193875200	Active TSS	A549	lung
10	chr1:193875000-193875400	Enhancers	Adipose Nuclei	Adipose
11	chr1:193875200-193875400	Enhancers	A549	lung
12	chr1:193885200-193885400	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:193885200-193885600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:193885200-193886200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr1:193885200-193886200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr1:193885200-193886400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:193885400-193885600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr1:193885400-193886000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr1:193885400-193886200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr1:193885400-193886200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr1:193885400-193886200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:193885400-193886400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr1:193885600-193885800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr1:193885800-193886000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr1:193886000-193886600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr1:193888800-193889400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:193888800-193889800	Enhancers	NH-A	brain
28	chr1:193889000-193889600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:193889000-193889600	Enhancers	Fetal Heart	heart
30	chr1:193895400-193895600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
31	chr1:193895400-193897400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
32	chr1:193896000-193897200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:193896200-193896400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:193896200-193896800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:193896800-193898400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr1:193897200-193897400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
37	chr1:193897200-193899600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:193897400-193898200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:193897600-193898400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr1:193898200-193898400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:193898200-193899800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:193898200-193900200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:193898200-193900200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr1:193898200-193900600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr1:193898400-193898600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr1:193898400-193899400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:193898400-193900200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr1:193898400-193900200	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr1:193898400-193900200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr1:193898600-193900200	Enhancers	HUES64 Cell Line	embryonic stem cell

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