Variant report

Variant	nsv528049
Chromosome Location	chr1:167003539-167010083
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	GATA2	chr1:167004069-167004173	SH-SY5Y	brain:	n/a	n/a
2	STAT3	chr1:167004561-167004566	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:166806409..166808484-chr1:167002328..167004286,2	K562	blood:
2	chr1:167002101..167004859-chr1:167007151..167009265,2	MCF-7	breast:
3	chr1:167002101..167004859-chr1:167007151..167009265,2	MCF-7	breast:
4	chr1:167009577..167010118-chr1:167021584..167022369,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238325	TF binding region
ENSG00000227907	chromatin interactions

Extended variants
information (count: 60 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7555095	chr1:167003539-167003540	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562770809	chr1:167003576-167003577	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2225153	chr1:167003579-167003580	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs376102587	chr1:167003595-167003596	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs374320955	chr1:167003672-167003673	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147673593	chr1:167003674-167003675	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs527767086	chr1:167003689-167003690	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs148337037	chr1:167003743-167003744	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs578218821	chr1:167003816-167003817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567496235	chr1:167003830-167003831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs55728917	chr1:167003843-167003844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs4657620	chr1:167003861-167003862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182610997	chr1:167003872-167003873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538965679	chr1:167003885-167003886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs4657621	chr1:167003894-167003895	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138641756	chr1:167003949-167003950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186658324	chr1:167003972-167003973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533851838	chr1:167004012-167004013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142318372	chr1:167004046-167004047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573671293	chr1:167004091-167004092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192588576	chr1:167004123-167004124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184829864	chr1:167004188-167004189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143293660	chr1:167004195-167004196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544940838	chr1:167004226-167004227	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs560096673	chr1:167004300-167004301	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs572134291	chr1:167004302-167004303	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs559193685	chr1:167004356-167004357	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542631468	chr1:167004401-167004402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561661538	chr1:167004472-167004473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531720057	chr1:167004510-167004511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550302430	chr1:167004516-167004517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528244426	chr1:167004537-167004538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs189211912	chr1:167004560-167004561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532826589	chr1:167004590-167004591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548139332	chr1:167004594-167004595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199806865	chr1:167004605-167004606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116269775	chr1:167004613-167004614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs72689351	chr1:167004647-167004648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs367846246	chr1:167004710-167004711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148335080	chr1:167004785-167004786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569288195	chr1:167009621-167009622	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375392681	chr1:167009623-167009624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs551551960	chr1:167009634-167009635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567614034	chr1:167009725-167009726	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559226122	chr1:167009726-167009727	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376716013	chr1:167009746-167009747	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191750368	chr1:167009777-167009778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs534202356	chr1:167009801-167009802	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs573989440	chr1:167009814-167009815	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148963429	chr1:167009816-167009817	Inactive region	Chromatin interactive region	1 gene(s)	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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:167002800-167003600	Enhancers	Liver	Liver
2	chr1:167003400-167003800	Flanking Active TSS	Fetal Heart	heart
3	chr1:167003800-167004200	Enhancers	Fetal Heart	heart
4	chr1:167004200-167004400	Flanking Active TSS	Fetal Heart	heart
5	chr1:167004400-167004800	Enhancers	Fetal Heart	heart

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