Variant report

Variant	nsv1003338
Chromosome Location	chr4:55566703-55582342
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	chr4:55571105..55573069-chr4:55576330..55579168,2	K562	blood:
3	chr4:55567098..55569303-chr4:55573075..55575854,2	K562	blood:
4	chr4:55571105..55573069-chr4:55576330..55579168,2	K562	blood:

Extended variants
information (count: 590 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547906389	chr4:55566796-55566797	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375010416	chr4:55566818-55566819	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377718364	chr4:55566833-55566834	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184977770	chr4:55566843-55566844	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554055474	chr4:55566887-55566888	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191254392	chr4:55566893-55566894	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552642446	chr4:55566925-55566926	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539690313	chr4:55566929-55566930	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371193911	chr4:55566932-55566933	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556705282	chr4:55566973-55566974	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534337247	chr4:55566977-55566978	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576492833	chr4:55566983-55566984	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375088812	chr4:55567015-55567016	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368423805	chr4:55567029-55567030	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183225606	chr4:55567050-55567051	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78253998	chr4:55567059-55567060	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572487909	chr4:55567149-55567150	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560498375	chr4:55567154-55567155	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113308790	chr4:55567189-55567190	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186899553	chr4:55567190-55567191	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2969157	chr4:55567200-55567201	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs3020821	chr4:55567214-55567215	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs545714592	chr4:55567244-55567245	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150544154	chr4:55567362-55567363	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116450030	chr4:55567392-55567393	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs547899674	chr4:55567446-55567447	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561408365	chr4:55567549-55567550	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527296787	chr4:55567556-55567557	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147298376	chr4:55567571-55567572	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369989769	chr4:55567602-55567603	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546988731	chr4:55567626-55567627	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113376024	chr4:55567645-55567646	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs570848169	chr4:55567646-55567647	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540106735	chr4:55567671-55567672	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111624310	chr4:55567690-55567691	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570250517	chr4:55567711-55567712	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182874873	chr4:55567721-55567722	Weak transcription Genic enhancers Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112941312	chr4:55567806-55567807	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187900641	chr4:55567845-55567846	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs3134885	chr4:55567888-55567889	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs554032783	chr4:55567897-55567898	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535059828	chr4:55567953-55567954	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558168432	chr4:55567962-55567963	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17084653	chr4:55567972-55567973	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371315722	chr4:55568018-55568019	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192419467	chr4:55568025-55568026	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182346175	chr4:55568030-55568031	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs562608105	chr4:55568119-55568120	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576198205	chr4:55568151-55568152	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571714530	chr4:55568218-55568219	Weak transcription Strong transcription Genic enhancers	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:187 , 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	chr4:55555200-55573600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:55555600-55574400	Weak transcription	Fetal Stomach	stomach
4	chr4:55557800-55594000	Weak transcription	Aorta	Aorta
5	chr4:55559600-55569600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:55560400-55568400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:55561000-55606600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:55561200-55569200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:55561400-55572000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:55561600-55567000	Strong transcription	Primary hematopoietic stem cells	blood
11	chr4:55562000-55577200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:55562800-55597400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr4:55563200-55573400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:55564000-55566800	Weak transcription	Right Ventricle	heart
15	chr4:55564200-55569600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:55565000-55570200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:55565000-55573600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:55565000-55574000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:55565000-55576000	Weak transcription	Ovary	ovary
20	chr4:55565200-55566800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr4:55565600-55575000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr4:55565600-55592800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:55566200-55567800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:55566200-55568600	Weak transcription	NHDF-Ad	bronchial
25	chr4:55566200-55569400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr4:55566200-55589600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:55566400-55568600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr4:55566600-55569800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr4:55566800-55567800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:55567000-55569800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:55567400-55567600	Enhancers	Brain Germinal Matrix	brain
32	chr4:55567600-55575400	Weak transcription	Brain Germinal Matrix	brain
33	chr4:55567800-55574200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr4:55567800-55587200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:55568400-55569200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:55568600-55570800	Strong transcription	NHDF-Ad	bronchial
37	chr4:55568600-55571200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr4:55569200-55572200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:55569400-55572000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:55569600-55571000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:55569600-55571400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:55569800-55571400	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:55569800-55571600	Strong transcription	Primary hematopoietic stem cells	blood
44	chr4:55570200-55570800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:55570400-55578600	Weak transcription	Fetal Brain Male	brain
46	chr4:55570800-55573400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:55570800-55573400	Weak transcription	NHDF-Ad	bronchial
48	chr4:55571000-55580000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:55571200-55575200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr4:55571400-55573200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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