Variant report

Variant	nsv515501
Chromosome Location	chr4:26446006-26457168
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:26455423..26458903-chr4:26462260..26464658,3	K562	blood:
2	chr4:26438899..26441461-chr4:26443781..26447435,3	K562	blood:

Extended variants
information (count: 412 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:412 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2788865	chr4:26446006-26446007	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115005066	chr4:26446057-26446058	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532718470	chr4:26446119-26446120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549485354	chr4:26446143-26446144	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116119002	chr4:26446157-26446158	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529475910	chr4:26446164-26446165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143491042	chr4:26446203-26446204	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs566412407	chr4:26446250-26446251	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534999228	chr4:26446260-26446261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34711982	chr4:26446276-26446277	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558391112	chr4:26446368-26446369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571672224	chr4:26446383-26446384	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372975551	chr4:26446387-26446388	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73810921	chr4:26446418-26446419	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557506237	chr4:26446483-26446484	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574166636	chr4:26446484-26446485	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112483387	chr4:26446520-26446521	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs376476423	chr4:26446595-26446596	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572164171	chr4:26446606-26446607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs556105860	chr4:26446648-26446649	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112357202	chr4:26446731-26446732	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs368905420	chr4:26446733-26446734	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs183376639	chr4:26446737-26446738	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs532778337	chr4:26446836-26446837	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111940896	chr4:26446841-26446842	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs398063383	chr4:26446852-26446853	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs542995409	chr4:26446855-26446856	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs563075211	chr4:26446865-26446866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs528954665	chr4:26446982-26446983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs565388132	chr4:26447048-26447049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549597078	chr4:26447097-26447098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143087061	chr4:26447115-26447116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528639814	chr4:26447145-26447146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs186453878	chr4:26447147-26447148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571936565	chr4:26447165-26447166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537476492	chr4:26447225-26447226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59191689	chr4:26447235-26447236	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs189578197	chr4:26447240-26447241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3113029	chr4:26447253-26447254	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs2105190	chr4:26447260-26447261	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs530106738	chr4:26447286-26447287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150797166	chr4:26447293-26447294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549790663	chr4:26447298-26447299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182230550	chr4:26447299-26447300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563683774	chr4:26447371-26447372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113569359	chr4:26447387-26447388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543064531	chr4:26447441-26447442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551648597	chr4:26447450-26447451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71186407	chr4:26447455-26447456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs57376052	chr4:26447472-26447473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
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
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	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
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Cancer	22183965	CNVD
Gastric cancer	16891809	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:26423400-26459200	Weak transcription	Thymus	Thymus
2	chr4:26436400-26456400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:26440800-26454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:26443000-26446400	Weak transcription	HSMMtube	muscle
5	chr4:26443000-26450600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:26443400-26446800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr4:26443400-26453200	Weak transcription	Osteobl	bone
8	chr4:26443600-26454200	Weak transcription	Fetal Lung	lung
9	chr4:26444200-26453600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:26444600-26447000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:26445000-26461000	Weak transcription	HSMM	muscle
12	chr4:26446000-26446400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr4:26446400-26446600	Enhancers	HSMMtube	muscle
14	chr4:26446600-26456000	Weak transcription	HSMMtube	muscle
15	chr4:26447000-26447600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:26449000-26449400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
17	chr4:26449200-26449400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:26451800-26452400	Enhancers	Colon Smooth Muscle	Colon
19	chr4:26452000-26452600	Enhancers	Pancreas	Pancrea
20	chr4:26452200-26452400	Enhancers	Ovary	ovary
21	chr4:26452400-26453400	Weak transcription	Colon Smooth Muscle	Colon
22	chr4:26452400-26453600	Weak transcription	Ovary	ovary
23	chr4:26452600-26453600	Weak transcription	Pancreas	Pancrea
24	chr4:26453200-26453800	Enhancers	Osteobl	bone
25	chr4:26453200-26459600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr4:26453400-26454000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:26453400-26455000	Enhancers	Colon Smooth Muscle	Colon
30	chr4:26453400-26455200	Enhancers	Fetal Thymus	thymus
31	chr4:26453600-26454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr4:26453600-26455000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:26453600-26455000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:26453600-26455000	Enhancers	Primary hematopoietic stem cells	blood
35	chr4:26453600-26455000	Enhancers	Rectal Smooth Muscle	rectum
36	chr4:26453600-26455200	Enhancers	Ovary	ovary
37	chr4:26453600-26455800	Enhancers	Pancreas	Pancrea
38	chr4:26453800-26454200	Enhancers	Fetal Stomach	stomach
39	chr4:26453800-26454600	Enhancers	Fetal Intestine Small	intestine
40	chr4:26453800-26454800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr4:26453800-26454800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:26453800-26455200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:26453800-26455200	Enhancers	HepG2	liver
44	chr4:26453800-26456800	Weak transcription	Osteobl	bone
45	chr4:26454000-26454400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:26454000-26454400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr4:26454000-26454600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:26454000-26454600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:26454000-26454600	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr4:26454000-26454800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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