Variant report

Variant	esv2763426
Chromosome Location	chr4:187861049-187878593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187641888..187650885-chr4:187865376..187870322,9	MCF-7	breast:
2	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
3	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
4	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
5	chr4:187644629..187648780-chr4:187865976..187870182,7	MCF-7	breast:
6	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
7	chr4:187658603..187659281-chr4:187867789..187868472,2	MCF-7	breast:
8	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:
9	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
10	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 742 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:742 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549342657	chr4:187861057-187861058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs4290939	chr4:187861068-187861069	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536520019	chr4:187861099-187861100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139680182	chr4:187861136-187861137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548809059	chr4:187861146-187861147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145212016	chr4:187861166-187861167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147650212	chr4:187861188-187861189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139616424	chr4:187861240-187861241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4301163	chr4:187861272-187861273	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs115902797	chr4:187861322-187861323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556583629	chr4:187861327-187861328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576651024	chr4:187861330-187861331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149678363	chr4:187861384-187861385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs562272646	chr4:187861405-187861406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11727056	chr4:187861409-187861410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116292486	chr4:187861418-187861419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74290836	chr4:187861543-187861544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533659591	chr4:187861570-187861571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549405447	chr4:187861571-187861572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375077663	chr4:187861576-187861577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374552811	chr4:187861588-187861589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10049830	chr4:187861593-187861594	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74321729	chr4:187861606-187861607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189050590	chr4:187861633-187861634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs551530147	chr4:187861635-187861636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572274507	chr4:187861652-187861653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571486879	chr4:187861664-187861665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77096281	chr4:187861717-187861718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs77248592	chr4:187861724-187861725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570018951	chr4:187861767-187861768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181460044	chr4:187861768-187861769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs369422885	chr4:187861783-187861784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555546024	chr4:187861859-187861860	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572624955	chr4:187861885-187861886	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541295147	chr4:187861923-187861924	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552464886	chr4:187861933-187861934	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543117608	chr4:187861948-187861949	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545975442	chr4:187861970-187861971	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374740672	chr4:187861976-187861977	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80324147	chr4:187861986-187861987	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572239405	chr4:187862049-187862050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs542472330	chr4:187862080-187862081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543658682	chr4:187862109-187862110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145461570	chr4:187862114-187862115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs562953846	chr4:187862136-187862137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs115537031	chr4:187862188-187862189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542334392	chr4:187862191-187862192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs12508027	chr4:187862197-187862198	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148812576	chr4:187862206-187862207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144049026	chr4:187862244-187862245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
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
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
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187837200-187863800	Weak transcription	Right Atrium	heart
2	chr4:187855000-187864000	Weak transcription	HSMMtube	muscle
3	chr4:187855200-187863600	Weak transcription	Fetal Heart	heart
4	chr4:187857200-187864000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:187857400-187863800	Weak transcription	Pancreas	Pancrea
6	chr4:187857400-187863800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:187857400-187864200	Weak transcription	Colonic Mucosa	Colon
8	chr4:187858200-187861200	Weak transcription	Stomach Mucosa	stomach
9	chr4:187858200-187864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr4:187858400-187862200	Enhancers	HepG2	liver
11	chr4:187858400-187862400	Weak transcription	Fetal Lung	lung
12	chr4:187858400-187863600	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:187858400-187863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:187858400-187867200	Weak transcription	Liver	Liver
15	chr4:187858600-187863800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:187858600-187863800	Weak transcription	Fetal Kidney	kidney
17	chr4:187858600-187863800	Weak transcription	HSMM	muscle
18	chr4:187858600-187864400	Weak transcription	NHLF	lung
19	chr4:187858600-187874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr4:187858800-187863800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:187858800-187863800	Weak transcription	Adipose Nuclei	Adipose
22	chr4:187858800-187864000	Weak transcription	Osteobl	bone
23	chr4:187858800-187864200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:187858800-187864200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:187858800-187869400	Weak transcription	NH-A	brain
26	chr4:187859200-187863600	Weak transcription	Fetal Intestine Large	intestine
27	chr4:187859200-187863800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr4:187859400-187864000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr4:187860000-187861200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr4:187860400-187866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:187860600-187867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:187860800-187863000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:187861000-187863600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:187861000-187864000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:187861200-187861400	Enhancers	Stomach Mucosa	stomach
36	chr4:187861200-187864000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr4:187861600-187861800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:187861800-187862000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:187861800-187862000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr4:187861800-187862000	Enhancers	Left Ventricle	heart
41	chr4:187862000-187863800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr4:187862000-187870000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr4:187862200-187863600	Weak transcription	HepG2	liver
44	chr4:187862200-187864200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr4:187862400-187862600	Enhancers	Fetal Lung	lung
46	chr4:187862600-187863400	Weak transcription	Fetal Lung	lung
47	chr4:187863000-187865600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr4:187863400-187865200	Enhancers	Fetal Lung	lung
49	chr4:187863600-187864400	Enhancers	Colon Smooth Muscle	Colon
50	chr4:187863600-187864400	Enhancers	HepG2	liver

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