Variant report

Variant	nsv1018032
Chromosome Location	chr4:187859265-187879695
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:0)
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	chr4:187644629..187648780-chr4:187865976..187870182,7	MCF-7	breast:
2	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
3	chr4:187658603..187659281-chr4:187867789..187868472,2	MCF-7	breast:
4	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
5	chr4:187647203..187650083-chr4:187858614..187861044,2	MCF-7	breast:
6	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
7	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
8	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
9	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
10	chr4:187641888..187650885-chr4:187865376..187870322,9	MCF-7	breast:
11	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 858 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:858 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77779781	chr4:187859265-187859266	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs566544102	chr4:187859286-187859287	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556070020	chr4:187859293-187859294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs554068673	chr4:187859316-187859317	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs573717310	chr4:187859385-187859386	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112494520	chr4:187859415-187859416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs560951898	chr4:187859422-187859423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs558939579	chr4:187859432-187859433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116498208	chr4:187859441-187859442	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540391146	chr4:187859482-187859483	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs111847544	chr4:187859518-187859519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs544244083	chr4:187859533-187859534	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532482700	chr4:187859561-187859562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190881753	chr4:187859583-187859584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs182338705	chr4:187859623-187859624	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145908837	chr4:187859629-187859630	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs186607154	chr4:187859641-187859642	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs192969267	chr4:187859646-187859647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs533742609	chr4:187859651-187859652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28455002	chr4:187859655-187859656	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138468163	chr4:187859657-187859658	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs149572075	chr4:187859675-187859676	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373362218	chr4:187859724-187859725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577817005	chr4:187859725-187859726	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs556372288	chr4:187859759-187859760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575786816	chr4:187859760-187859761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556709866	chr4:187859809-187859810	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544836889	chr4:187859813-187859814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560336485	chr4:187859819-187859820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs555212622	chr4:187859853-187859854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35052654	chr4:187859854-187859855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs397731740	chr4:187859866-187859867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377091482	chr4:187859945-187859946	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs182826836	chr4:187859973-187859974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs540654279	chr4:187860063-187860064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs527588220	chr4:187860066-187860067	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs560275025	chr4:187860098-187860099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs77339494	chr4:187860103-187860104	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545929591	chr4:187860130-187860131	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs115408710	chr4:187860227-187860228	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs114438938	chr4:187860228-187860229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs115760990	chr4:187860229-187860230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs35307378	chr4:187860248-187860249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs568799302	chr4:187860275-187860276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs188694696	chr4:187860330-187860331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76103047	chr4:187860343-187860344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192807523	chr4:187860347-187860348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs150612543	chr4:187860348-187860349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs144229958	chr4:187860362-187860363	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs754548	chr4:187860363-187860364	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:347 , 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	chr4:187856400-187860000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:187857200-187864000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:187857400-187863800	Weak transcription	Pancreas	Pancrea
7	chr4:187857400-187863800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:187857400-187864200	Weak transcription	Colonic Mucosa	Colon
9	chr4:187858000-187859400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:187858200-187861200	Weak transcription	Stomach Mucosa	stomach
11	chr4:187858200-187864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:187858400-187862200	Enhancers	HepG2	liver
13	chr4:187858400-187862400	Weak transcription	Fetal Lung	lung
14	chr4:187858400-187863600	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:187858400-187863800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:187858400-187867200	Weak transcription	Liver	Liver
17	chr4:187858600-187863800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr4:187858600-187863800	Weak transcription	Fetal Kidney	kidney
19	chr4:187858600-187863800	Weak transcription	HSMM	muscle
20	chr4:187858600-187864400	Weak transcription	NHLF	lung
21	chr4:187858600-187874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:187858800-187859400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr4:187858800-187863800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:187858800-187863800	Weak transcription	Adipose Nuclei	Adipose
25	chr4:187858800-187864000	Weak transcription	Osteobl	bone
26	chr4:187858800-187864200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:187858800-187864200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:187858800-187869400	Weak transcription	NH-A	brain
29	chr4:187859200-187863600	Weak transcription	Fetal Intestine Large	intestine
30	chr4:187859200-187863800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:187859400-187864000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:187860000-187860400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:187860000-187861200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:187860200-187860600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:187860200-187860800	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr4:187860200-187861000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr4:187860400-187860800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:187860400-187861000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:187860400-187861000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr4:187860400-187866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:187860600-187867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:187860800-187863000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:187861000-187863600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:187861000-187864000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:187861200-187861400	Enhancers	Stomach Mucosa	stomach
46	chr4:187861200-187864000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:187861600-187861800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:187861800-187862000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr4:187861800-187862000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:187861800-187862000	Enhancers	Left Ventricle	heart

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