Variant report

Variant	nsv4648
Chromosome Location	chr4:187863640-187901342
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:11)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
2	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
3	chr4:187644629..187648780-chr4:187865976..187870182,7	MCF-7	breast:
4	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
5	chr4:187641888..187650885-chr4:187865376..187870322,9	MCF-7	breast:
6	chr4:187658603..187659281-chr4:187867789..187868472,2	MCF-7	breast:
7	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
8	chr4:187759553..187761639-chr4:187893343..187896166,2	K562	blood:
9	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:
10	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
11	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAT1-1	chr4:187900644-187900886	XLOC_004215

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 930 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:930 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544793543	chr4:187863666-187863667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78220347	chr4:187863704-187863705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75516535	chr4:187863705-187863706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs398083865	chr4:187863713-187863714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397881007	chr4:187863714-187863715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564948127	chr4:187863715-187863716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575392023	chr4:187863739-187863740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544456427	chr4:187863783-187863784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532625973	chr4:187863786-187863787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561057155	chr4:187863856-187863857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112160317	chr4:187863874-187863875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544310221	chr4:187863902-187863903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77776250	chr4:187863964-187863965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375884435	chr4:187863984-187863985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537783011	chr4:187863990-187863991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58108356	chr4:187864000-187864001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150259328	chr4:187864003-187864004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551463307	chr4:187864047-187864048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571440655	chr4:187864064-187864065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138727334	chr4:187864085-187864086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149341581	chr4:187864115-187864116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147489309	chr4:187864119-187864120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536554229	chr4:187864173-187864174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186145509	chr4:187864185-187864186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369955167	chr4:187864246-187864247	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs538657889	chr4:187864301-187864302	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs138379370	chr4:187864334-187864335	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs575455855	chr4:187864337-187864338	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs79872843	chr4:187864342-187864343	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs561071209	chr4:187864369-187864370	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs57055909	chr4:187864406-187864407	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs553794859	chr4:187864476-187864477	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs77403085	chr4:187864504-187864505	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs572068818	chr4:187864508-187864509	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs540177751	chr4:187864525-187864526	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs560424184	chr4:187864562-187864563	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs532290543	chr4:187864608-187864609	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs13137204	chr4:187864673-187864674	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs56212263	chr4:187864678-187864679	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs147191698	chr4:187864711-187864712	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs115719582	chr4:187864715-187864716	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs567536912	chr4:187864726-187864727	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs148651764	chr4:187864790-187864791	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs564911999	chr4:187864806-187864807	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs577200789	chr4:187864815-187864816	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs114178830	chr4:187864830-187864831	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs541091187	chr4:187864919-187864920	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs75396101	chr4:187864923-187864924	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs558587660	chr4:187864980-187864981	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs146158013	chr4:187865009-187865010	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD
Oral cancer	17325662	CNVD

Chromatin state (count:349 , 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	chr4:187857200-187864000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:187857400-187863800	Weak transcription	Pancreas	Pancrea
5	chr4:187857400-187863800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:187857400-187864200	Weak transcription	Colonic Mucosa	Colon
7	chr4:187858200-187864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr4:187858400-187863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:187858400-187867200	Weak transcription	Liver	Liver
10	chr4:187858600-187863800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:187858600-187863800	Weak transcription	Fetal Kidney	kidney
12	chr4:187858600-187863800	Weak transcription	HSMM	muscle
13	chr4:187858600-187864400	Weak transcription	NHLF	lung
14	chr4:187858600-187874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:187858800-187863800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr4:187858800-187863800	Weak transcription	Adipose Nuclei	Adipose
17	chr4:187858800-187864000	Weak transcription	Osteobl	bone
18	chr4:187858800-187864200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:187858800-187864200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:187858800-187869400	Weak transcription	NH-A	brain
21	chr4:187859200-187863800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:187859400-187864000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr4:187860400-187866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:187860600-187867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:187861000-187864000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:187861200-187864000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:187862000-187863800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:187862000-187870000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:187862200-187864200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:187863000-187865600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr4:187863400-187865200	Enhancers	Fetal Lung	lung
32	chr4:187863600-187864400	Enhancers	Colon Smooth Muscle	Colon
33	chr4:187863600-187864400	Enhancers	HepG2	liver
34	chr4:187863600-187865000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr4:187863600-187865000	Enhancers	Fetal Heart	heart
36	chr4:187863600-187866200	Enhancers	Fetal Intestine Large	intestine
37	chr4:187863600-187868400	Enhancers	Fetal Intestine Small	intestine
38	chr4:187863800-187864400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:187863800-187864400	Enhancers	Adipose Nuclei	Adipose
40	chr4:187863800-187864600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:187863800-187864600	Enhancers	Pancreas	Pancrea
42	chr4:187863800-187864600	Enhancers	Right Atrium	heart
43	chr4:187863800-187864800	Enhancers	Brain Germinal Matrix	brain
44	chr4:187863800-187865000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr4:187863800-187865000	Enhancers	Fetal Stomach	stomach
46	chr4:187863800-187865000	Enhancers	Rectal Smooth Muscle	rectum
47	chr4:187863800-187865000	Enhancers	Small Intestine	intestine
48	chr4:187863800-187865000	Enhancers	HSMM	muscle
49	chr4:187863800-187865400	Enhancers	Fetal Muscle Leg	muscle
50	chr4:187863800-187865400	Enhancers	Rectal Mucosa Donor 31	rectum

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