Variant report

Variant	nsv1025388
Chromosome Location	chr4:172891427-172951140
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:172923574..172925287-chr4:172926705..172928781,2	MCF-7	breast:
2	chr4:172898051..172899837-chr4:172902781..172904599,2	K562	blood:
3	chr4:172923574..172925287-chr4:172926705..172928781,2	MCF-7	breast:
4	chr4:172887366..172889659-chr4:172893531..172896465,2	K562	blood:
5	chr4:172929694..172931384-chr4:173129671..173131846,2	K562	blood:
6	chr4:172898051..172899837-chr4:172902781..172904599,2	K562	blood:

Extended variants
information (count: 1301 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1301 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548864487	chr4:172895487-172895488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs568803118	chr4:172895493-172895494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537619017	chr4:172895506-172895507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13132799	chr4:172895555-172895556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550938764	chr4:172895566-172895567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs79669634	chr4:172895591-172895592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367654729	chr4:172895608-172895609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs332968	chr4:172895666-172895667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs332967	chr4:172895674-172895675	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558865274	chr4:172895711-172895712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571681477	chr4:172895735-172895736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532253865	chr4:172895756-172895757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541922348	chr4:172895777-172895778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78028921	chr4:172895835-172895836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs114122227	chr4:172895838-172895839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550369368	chr4:172895848-172895849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201906081	chr4:172895906-172895907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs33942324	chr4:172895907-172895908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs397938024	chr4:172895908-172895909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574422622	chr4:172895931-172895932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139687998	chr4:172895934-172895935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117423901	chr4:172895957-172895958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143700345	chr4:172895968-172895969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147222099	chr4:172895980-172895981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559899683	chr4:172895996-172895997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532194166	chr4:172896009-172896010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs548629890	chr4:172896015-172896016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs76127621	chr4:172896016-172896017	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368742898	chr4:172896043-172896044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531149238	chr4:172896046-172896047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs332966	chr4:172896068-172896069	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs139229736	chr4:172896091-172896092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551952536	chr4:172896095-172896096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs332965	chr4:172896136-172896137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs76960519	chr4:172896200-172896201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554192428	chr4:172896264-172896265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568007215	chr4:172896265-172896266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536909952	chr4:172896325-172896326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79408959	chr4:172896354-172896355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568666043	chr4:172896355-172896356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs230	chr4:172896473-172896474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs802	chr4:172896480-172896481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367665581	chr4:172896496-172896497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs72993069	chr4:172896551-172896552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145215685	chr4:172896574-172896575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554090157	chr4:172896589-172896590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148739136	chr4:172896602-172896603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562021295	chr4:172896608-172896609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs367967328	chr4:172896692-172896693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs386682105	chr4:172896693-172896694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172895400-172896400	Enhancers	Brain Germinal Matrix	brain
2	chr4:172896400-172900600	Weak transcription	Brain Germinal Matrix	brain
3	chr4:172900600-172900800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:172900600-172900800	Enhancers	Brain Germinal Matrix	brain
5	chr4:172900800-172905000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:172902200-172902600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:172902400-172902600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:172902400-172902600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:172902400-172902600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:172902600-172905000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:172902600-172905000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:172902600-172905400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:172904800-172906600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:172905000-172905400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:172905000-172905600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:172905000-172905800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:172905000-172905800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr4:172905000-172906000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:172905000-172906200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr4:172905000-172906200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr4:172905000-172906200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr4:172905000-172906400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:172905200-172905600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr4:172905200-172906000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr4:172905400-172905800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr4:172905400-172905800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:172905400-172906800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:172905400-172915600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:172906000-172906800	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr4:172906000-172911600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr4:172906400-172907600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:172906800-172911800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:172907600-172907800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:172911600-172912600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
35	chr4:172911800-172913600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:172912600-172913400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:172913000-172914200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:172913200-172914200	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:172913200-172914200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr4:172913200-172914600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr4:172913200-172914800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr4:172913200-172914800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr4:172913400-172914400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr4:172913600-172914800	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr4:172914000-172914800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:172914200-172914400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr4:172914200-172914600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr4:172914400-172914600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr4:172914600-172914800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr4:172914600-172915600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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