Variant report

Variant	nsv947469
Chromosome Location	chr1:221294873-221307587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:221307562-221307608	HepG2	liver:	n/a	chr1:221307593-221307606 chr1:221307593-221307604
2	CEBPB	chr1:221302633-221302676	HepG2	liver:	n/a	chr1:221302644-221302655
3	CTCF	chr1:221297760-221297910	HMF	breast:	n/a	n/a
4	MAFK	chr1:221295314-221295472	HepG2	liver:	n/a	chr1:221295376-221295391
5	MAFK	chr1:221295312-221295438	HepG2	liver:	n/a	chr1:221295376-221295391
6	POLR2A	chr1:221295775-221295790	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:221303549-221303674	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:221300272-221300291	ProgFib	skin:	n/a	n/a
9	POLR2A	chr1:221300185-221300267	ProgFib	skin:	n/a	n/a
10	POLR2A	chr1:221294982-221295076	MCF10A-Er-Src	breast:	n/a	n/a
11	YY1	chr1:221296418-221296586	K562	blood:	n/a	chr1:221296511-221296533 chr1:221296514-221296522

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:221285766..221287971-chr1:221293496..221296080,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DUSP10-7	chr1:221307207-221307563	NONHSAT009637

Variant related genes	Relation type
ENSG00000226211	TF binding region

Extended variants
information (count: 138 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12029150	chr1:221294894-221294895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537237767	chr1:221294918-221294919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191657915	chr1:221294920-221294921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570785125	chr1:221294944-221294945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184288473	chr1:221294972-221294973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140711521	chr1:221294980-221294981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368268893	chr1:221294992-221294993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542264917	chr1:221295053-221295054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75300320	chr1:221295082-221295083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546719840	chr1:221295134-221295135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576123338	chr1:221295141-221295142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144629157	chr1:221295156-221295157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115119825	chr1:221295162-221295163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532414076	chr1:221295172-221295173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541342699	chr1:221295212-221295213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559736798	chr1:221295213-221295214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17009439	chr1:221295225-221295226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376797527	chr1:221295241-221295242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35754387	chr1:221295270-221295271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188975769	chr1:221295303-221295304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570035114	chr1:221295312-221295313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531060246	chr1:221295318-221295319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552464203	chr1:221295328-221295329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560147505	chr1:221295329-221295330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534942081	chr1:221295350-221295351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546888562	chr1:221295377-221295378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568456991	chr1:221295393-221295394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535857899	chr1:221295439-221295440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554579098	chr1:221295451-221295452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576028790	chr1:221295462-221295463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537166561	chr1:221295504-221295505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558744710	chr1:221295526-221295527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369367964	chr1:221295541-221295542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12026738	chr1:221295577-221295578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs116296515	chr1:221295578-221295579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12059500	chr1:221295626-221295627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192327663	chr1:221295739-221295740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78280762	chr1:221295760-221295761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530872318	chr1:221295784-221295785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185220022	chr1:221295816-221295817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545934157	chr1:221295850-221295851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549268677	chr1:221295863-221295864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190456239	chr1:221295885-221295886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569158379	chr1:221295942-221295943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531399574	chr1:221295971-221295972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140230607	chr1:221295976-221295977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182216555	chr1:221295978-221295979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536169473	chr1:221295981-221295982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547843165	chr1:221295987-221295988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76921038	chr1:221296003-221296004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	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
Liposarcoma	21253554	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
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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	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
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Developmental delay	21147756	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Autism	14699429	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221290000-221297400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:221296200-221296800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:221297400-221297600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:221305800-221306400	Enhancers	HUES48 Cell Line	embryonic stem cell

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