Variant report

Variant	nsv1008257
Chromosome Location	chr4:44973414-44999607
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:
2	chr4:44999456..45001286-chr4:45006123..45008246,2	MCF-7	breast:
3	chr4:44973261..44975685-chr4:44978154..44979821,2	K562	blood:

Extended variants
information (count: 896 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:896 , 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	rs534776220	chr4:44973427-44973428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373433377	chr4:44973440-44973441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187684559	chr4:44973452-44973453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145202407	chr4:44973523-44973524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73812457	chr4:44973529-44973530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564366372	chr4:44973556-44973557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147225508	chr4:44973604-44973605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192540666	chr4:44973605-44973606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561628540	chr4:44973612-44973613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528903766	chr4:44973646-44973647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567810503	chr4:44973654-44973655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547153470	chr4:44973665-44973666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559430634	chr4:44973703-44973704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs370141260	chr4:44973712-44973713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs57917541	chr4:44973726-44973727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148685360	chr4:44973742-44973743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569918219	chr4:44973799-44973800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539260663	chr4:44973809-44973810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386674123	chr4:44973819-44973820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7670039	chr4:44973839-44973840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184510007	chr4:44973868-44973869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535047906	chr4:44973871-44973872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34328932	chr4:44973879-44973880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566128196	chr4:44973880-44973881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553176868	chr4:44973886-44973887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578078378	chr4:44973954-44973955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539257516	chr4:44973972-44973973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557940858	chr4:44973994-44973995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142830503	chr4:44974008-44974009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552802423	chr4:44974047-44974048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575331954	chr4:44974072-44974073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561988794	chr4:44974076-44974077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs151035128	chr4:44974093-44974094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140910010	chr4:44974113-44974114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377687419	chr4:44974121-44974122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371283466	chr4:44974138-44974139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs34625281	chr4:44974148-44974149	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs532996529	chr4:44974168-44974169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551070010	chr4:44974215-44974216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563504627	chr4:44974276-44974277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143703181	chr4:44974290-44974291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146805698	chr4:44974311-44974312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs567653563	chr4:44974332-44974333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528467336	chr4:44974373-44974374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140675562	chr4:44974400-44974401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187681334	chr4:44974437-44974438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368974238	chr4:44974451-44974452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539083721	chr4:44974470-44974471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557508043	chr4:44974504-44974505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569843115	chr4:44974541-44974542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Olfactory neuroblastoma	18408657	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	16616336	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:44968000-44975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:44975800-44976600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:44984200-44984400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:44984200-44984400	Enhancers	HMEC	breast
5	chr4:44984400-44984800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:44984400-44985200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:44984400-44985400	Weak transcription	HMEC	breast
8	chr4:44985200-44986600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:44985200-44988600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:44985400-44988000	Enhancers	HMEC	breast
11	chr4:44985800-44986400	Enhancers	Fetal Stomach	stomach
12	chr4:44986600-44987800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:44987800-44988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:44988600-44993400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:44993400-44994000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:44994000-44997000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:44996800-44997400	Enhancers	HMEC	breast
18	chr4:44997000-44998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:44998000-44998800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:44998000-44998800	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:44998800-45006200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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