Variant report

Variant	esv3374311
Chromosome Location	chr4:187216858-187221156
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:187217859..187218927-chr4:187508295..187509239,10	K562	blood:
2	chr4:187219005..187221552-chr4:187222581..187224817,2	K562	blood:
3	chr4:187218272..187218827-chr4:187476643..187477146,2	MCF-7	breast:
4	chr4:187216645..187219482-chr4:187510341..187512353,2	K562	blood:
5	chr4:187219257..187220112-chr4:187475864..187476838,2	MCF-7	breast:
6	chr4:187218241..187218767-chr4:187475608..187476559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168412	chromatin interactions
ENSG00000272297	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533748097	chr4:187216888-187216889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs13108384	chr4:187216894-187216895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs369539356	chr4:187216955-187216956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571103626	chr4:187216966-187216967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189867205	chr4:187216990-187216991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556785430	chr4:187217007-187217008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs386683498	chr4:187217008-187217009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114265679	chr4:187217009-187217010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78284545	chr4:187217066-187217067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572485993	chr4:187217095-187217096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182036037	chr4:187217105-187217106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560238259	chr4:187217115-187217116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577059551	chr4:187217117-187217118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545741246	chr4:187217120-187217121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs145964809	chr4:187217131-187217132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs531375416	chr4:187217160-187217161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112529014	chr4:187217171-187217172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372793179	chr4:187217231-187217232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71624756	chr4:187217252-187217253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561432862	chr4:187217278-187217279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368658246	chr4:187217284-187217285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35978099	chr4:187217308-187217309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs12507040	chr4:187217373-187217374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs540134629	chr4:187217430-187217431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368703519	chr4:187217503-187217504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550446849	chr4:187217531-187217532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185486154	chr4:187217540-187217541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536020702	chr4:187217541-187217542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs67022475	chr4:187217548-187217549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12511874	chr4:187217560-187217561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553470146	chr4:187217562-187217563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190744623	chr4:187217564-187217565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552042174	chr4:187217565-187217566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550355579	chr4:187217611-187217612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12500151	chr4:187217638-187217639	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs35755397	chr4:187217639-187217640	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs556005739	chr4:187217664-187217665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74514098	chr4:187217736-187217737	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548157501	chr4:187217772-187217773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541602900	chr4:187217773-187217774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561492305	chr4:187217810-187217811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs180841294	chr4:187217813-187217814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs77688149	chr4:187217838-187217839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13116273	chr4:187217886-187217887	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs201779094	chr4:187217896-187217897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs550509063	chr4:187217907-187217908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375299928	chr4:187217939-187217940	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570345957	chr4:187217949-187217950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185229705	chr4:187217957-187217958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549590883	chr4:187218038-187218039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Breast cancer	16272173	CNVD
Breast cancer	17133270	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
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187205800-187217400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:187209800-187217600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:187212600-187219000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:187213600-187217600	Weak transcription	Liver	Liver
5	chr4:187217400-187217800	Enhancers	HepG2	liver
6	chr4:187217400-187218000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:187217400-187219200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:187217600-187217800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:187217600-187218000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:187217600-187218000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr4:187217600-187218200	Enhancers	Duodenum Mucosa	Duodenum
12	chr4:187217600-187218800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:187217600-187219000	Enhancers	Liver	Liver
14	chr4:187217800-187218000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:187217800-187218000	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:187217800-187218000	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr4:187217800-187218000	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr4:187217800-187218000	Enhancers	Fetal Heart	heart
19	chr4:187217800-187219200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:187218000-187218200	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:187218000-187218400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:187218200-187218400	Bivalent Enhancer	Fetal Kidney	kidney
23	chr4:187218200-187218400	Enhancers	Stomach Mucosa	stomach
24	chr4:187218200-187219200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr4:187218400-187218600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:187218400-187218600	Enhancers	Fetal Brain Male	brain
27	chr4:187218400-187219200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:187218400-187219200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:187218600-187218800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:187218600-187218800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr4:187218600-187219200	Bivalent Enhancer	Fetal Brain Male	brain
32	chr4:187218600-187219600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr4:187218600-187219600	Bivalent Enhancer	Fetal Stomach	stomach
34	chr4:187218600-187220000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:187218800-187219000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr4:187218800-187219200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
37	chr4:187219000-187219200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:187219000-187219200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr4:187219000-187219200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
40	chr4:187219000-187219200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr4:187219000-187219200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
42	chr4:187219000-187219200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
43	chr4:187219000-187219200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
44	chr4:187219000-187219400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr4:187219000-187219400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr4:187219000-187219400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr4:187219000-187219400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:187219000-187219400	Flanking Bivalent TSS/Enh	Fetal Lung	lung
49	chr4:187219000-187219600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
50	chr4:187219000-187219600	Bivalent Enhancer	Liver	Liver

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