Variant report

Variant	nsv1021182
Chromosome Location	chr4:171830560-171924702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:171836658..171838805-chr4:171839707..171841638,2	MCF-7	breast:
2	chr4:171836658..171838805-chr4:171839707..171841638,2	MCF-7	breast:
3	chr4:171911858..171912761-chr4:172706205..172707181,4	MCF-7	breast:
4	chr4:171912038..171912871-chr4:172107600..172108526,5	MCF-7	breast:

Extended variants
information (count: 868 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:868 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111987859	chr4:171831006-171831007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115497952	chr4:171831024-171831025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547301125	chr4:171831030-171831031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146600368	chr4:171831032-171831033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181599054	chr4:171831039-171831040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116730936	chr4:171831042-171831043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570037340	chr4:171831057-171831058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539139385	chr4:171831097-171831098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186210644	chr4:171831099-171831100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564232339	chr4:171831183-171831184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191370446	chr4:171831213-171831214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555298033	chr4:171831217-171831218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139811896	chr4:171831237-171831238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149802249	chr4:171831249-171831250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536236082	chr4:171831259-171831260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556138544	chr4:171831274-171831275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183083657	chr4:171831277-171831278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145746575	chr4:171831343-171831344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546611489	chr4:171831366-171831367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs566611616	chr4:171831379-171831380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs7675507	chr4:171831401-171831402	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs571902571	chr4:171831431-171831432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540875001	chr4:171831432-171831433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28837143	chr4:171831514-171831515	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs529972079	chr4:171831539-171831540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543419192	chr4:171831571-171831572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563702179	chr4:171831581-171831582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187685992	chr4:171831611-171831612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552630339	chr4:171831623-171831624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs6837928	chr4:171831624-171831625	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs528673202	chr4:171831630-171831631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548831777	chr4:171831647-171831648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148929649	chr4:171831680-171831681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13131902	chr4:171831733-171831734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147024899	chr4:171831752-171831753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569645157	chr4:171831763-171831764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538298782	chr4:171831767-171831768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558619120	chr4:171831841-171831842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571838419	chr4:171831869-171831870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6843760	chr4:171831883-171831884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190805884	chr4:171831921-171831922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116501928	chr4:171831923-171831924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543709520	chr4:171831924-171831925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182323909	chr4:171831925-171831926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370835986	chr4:171831960-171831961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs377061401	chr4:171831997-171831998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538169505	chr4:171832000-171832001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187746927	chr4:171832002-171832003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574781071	chr4:171832016-171832017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559868237	chr4:171832046-171832047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
primary effusion lymphomas	17116491	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
Basal cell lymphoma	17053054	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Developmental delay	22127048	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:171831000-171831200	Enhancers	Pancreas	Pancrea
2	chr4:171831200-171832600	Weak transcription	Pancreas	Pancrea
3	chr4:171837200-171838600	Enhancers	Fetal Intestine Small	intestine
4	chr4:171838600-171842000	Weak transcription	Fetal Intestine Small	intestine
5	chr4:171842000-171842200	Enhancers	Fetal Intestine Small	intestine
6	chr4:171842200-171842600	Weak transcription	Fetal Intestine Small	intestine
7	chr4:171842600-171843000	Enhancers	Fetal Intestine Small	intestine
8	chr4:171852400-171852800	Enhancers	Fetal Kidney	kidney
9	chr4:171861200-171861800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr4:171861400-171861800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr4:171865800-171866600	Enhancers	HMEC	breast
12	chr4:171866000-171867600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:171892600-171893200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:171892800-171893200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:171893200-171901000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:171899800-171901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr4:171900000-171900400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:171901000-171901200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:171909000-171909200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:171909000-171909600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:171909200-171912400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:171910600-171910800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:171912400-171912800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:171912400-171913000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr4:171912400-171913200	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:171912400-171913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:171912400-171913400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:171912600-171912800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:171912600-171912800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr4:171912600-171913000	Enhancers	Gastric	stomach

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