Variant report

Variant	nsv997954
Chromosome Location	chr4:55575003-55587787
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:55567098..55569303-chr4:55573075..55575854,2	K562	blood:
2	chr4:55585916..55588173-chr4:55590799..55592700,2	K562	blood:
3	chr4:55585742..55588385-chr4:55588743..55591028,2	MCF-7	breast:
4	chr4:55571105..55573069-chr4:55576330..55579168,2	K562	blood:

Extended variants
information (count: 482 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:482 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550100181	chr4:55575003-55575004	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs570199002	chr4:55575086-55575087	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115633845	chr4:55575092-55575093	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs2237018	chr4:55575144-55575145	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2237017	chr4:55575154-55575155	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534670145	chr4:55575163-55575164	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs531264953	chr4:55575174-55575175	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs2969160	chr4:55575274-55575275	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369078667	chr4:55575292-55575293	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546012244	chr4:55575308-55575309	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs376953288	chr4:55575398-55575399	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs17084677	chr4:55575399-55575400	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs575802930	chr4:55575400-55575401	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs541537829	chr4:55575473-55575474	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs56345799	chr4:55575477-55575478	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188280359	chr4:55575485-55575486	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs191569240	chr4:55575520-55575521	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs376835084	chr4:55575530-55575531	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs564842325	chr4:55575532-55575533	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs533444672	chr4:55575538-55575539	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs376229086	chr4:55575585-55575586	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs372737002	chr4:55575586-55575587	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs72549293	chr4:55575593-55575594	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs73137716	chr4:55575594-55575595	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs376275305	chr4:55575609-55575610	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs373472667	chr4:55575629-55575630	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
27	rs376940990	chr4:55575668-55575669	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
28	rs143707288	chr4:55575669-55575670	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
29	rs72549294	chr4:55575673-55575674	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
30	rs111646246	chr4:55575702-55575703	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
31	rs140536677	chr4:55575704-55575705	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
32	rs561733056	chr4:55575807-55575808	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
33	rs566036826	chr4:55575808-55575809	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
34	rs184396713	chr4:55575858-55575859	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs557850396	chr4:55575862-55575863	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs187319292	chr4:55575867-55575868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs539371996	chr4:55575998-55575999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs556003746	chr4:55576055-55576056	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs371152447	chr4:55576056-55576057	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs79425580	chr4:55576079-55576080	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs541574305	chr4:55576080-55576081	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs112408250	chr4:55576089-55576090	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs572040299	chr4:55576131-55576132	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs373061211	chr4:55576134-55576135	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs192628365	chr4:55576151-55576152	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs56037660	chr4:55576155-55576156	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs34841848	chr4:55576196-55576197	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs35781652	chr4:55576267-55576268	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs532913895	chr4:55576273-55576274	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs544145362	chr4:55576275-55576276	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
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
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	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
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	19435819	CNVD
Multiple myeloma	16616336	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
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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian neoplasms	16753589	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21569311	CNVD
Glioblastoma	17504929	CNVD
Glioblastoma	16823502	CNVD
Melanoma	16908931	CNVD
Glioblastoma	20031968	CNVD
Medulloblastoma	19270706	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Olfactory neuroblastoma	18408657	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Rhabdomyosarcoma	16790082	CNVD
Gastrointestinal stromal cancer	17438095	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	19208797	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	19115005	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164920	CNVD
Cancer	22183965	CNVD
Melanoma	18980976	CNVD
Rhabdomyosarcoma	20807811	CNVD

Chromatin state (count:172 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
3	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:55562000-55577200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr4:55565000-55576000	Weak transcription	Ovary	ovary
7	chr4:55565600-55592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:55566200-55589600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:55567600-55575400	Weak transcription	Brain Germinal Matrix	brain
10	chr4:55567800-55587200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:55570400-55578600	Weak transcription	Fetal Brain Male	brain
12	chr4:55571000-55580000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:55571200-55575200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr4:55572200-55576000	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:55573200-55575400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr4:55573200-55576200	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:55573200-55576600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:55573400-55576400	Genic enhancers	Primary hematopoietic stem cells	blood
19	chr4:55573400-55576600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:55573600-55575400	Weak transcription	HUVEC	blood vessel
21	chr4:55573600-55575400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr4:55573600-55576400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:55573600-55577400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:55573600-55577400	Enhancers	Fetal Thymus	thymus
25	chr4:55573600-55583200	Weak transcription	Brain Substantia Nigra	brain
26	chr4:55573800-55575200	Weak transcription	Thymus	Thymus
27	chr4:55573800-55577600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr4:55574200-55576000	Enhancers	Gastric	stomach
29	chr4:55574200-55576200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:55574200-55576400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:55574200-55579000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:55574400-55575200	Enhancers	Lung	lung
33	chr4:55574400-55578200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:55574600-55575200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr4:55574600-55575200	Enhancers	Primary T cells fromperipheralblood	blood
36	chr4:55574600-55575200	ZNF genes & repeats	Fetal Stomach	stomach
37	chr4:55574600-55575200	Enhancers	Pancreas	Pancrea
38	chr4:55574600-55575400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr4:55574600-55575600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:55574600-55576600	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr4:55574800-55575200	Enhancers	Spleen	Spleen
42	chr4:55574800-55576000	Weak transcription	Right Atrium	heart
43	chr4:55575000-55575200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr4:55575000-55575400	Enhancers	Primary B cells from cord blood	blood
45	chr4:55575000-55575400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr4:55575000-55575800	Enhancers	GM12878-XiMat	blood
47	chr4:55575000-55593600	Weak transcription	NHDF-Ad	bronchial
48	chr4:55575200-55575400	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr4:55575200-55575600	Weak transcription	Fetal Stomach	stomach
50	chr4:55575200-55575600	Active TSS	Thymus	Thymus

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