Variant report

Variant	esv34947
Chromosome Location	chr4:187865835-187878165
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	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
3	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
4	chr4:187644629..187648780-chr4:187865976..187870182,7	MCF-7	breast:
5	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
6	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
7	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
8	chr4:187658603..187659281-chr4:187867789..187868472,2	MCF-7	breast:
9	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
10	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 535 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:535 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1425963	chr4:187865835-187865836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs60180201	chr4:187865876-187865877	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs377004421	chr4:187865885-187865886	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560750707	chr4:187865895-187865896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs146465039	chr4:187865911-187865912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552780761	chr4:187865949-187865950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187434782	chr4:187865950-187865951	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532031848	chr4:187865961-187865962	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs72719506	chr4:187865973-187865974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555616865	chr4:187866073-187866074	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567917075	chr4:187866106-187866107	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs117308210	chr4:187866107-187866108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs547143359	chr4:187866183-187866184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570648996	chr4:187866193-187866194	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117677696	chr4:187866245-187866246	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs367625100	chr4:187866254-187866255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562566430	chr4:187866306-187866307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555926173	chr4:187866315-187866316	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11728508	chr4:187866343-187866344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs192578564	chr4:187866425-187866426	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541179399	chr4:187866453-187866454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs140896587	chr4:187866454-187866455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574705595	chr4:187866494-187866495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs73873964	chr4:187866559-187866560	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79058026	chr4:187866575-187866576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112330779	chr4:187866588-187866589	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs577399447	chr4:187866598-187866599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs144452645	chr4:187866636-187866637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs145353811	chr4:187866654-187866655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs149180969	chr4:187866660-187866661	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545879603	chr4:187866749-187866750	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143402056	chr4:187866770-187866771	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532046059	chr4:187866819-187866820	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548559813	chr4:187866847-187866848	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs148369485	chr4:187866851-187866852	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113792523	chr4:187866852-187866853	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs184782146	chr4:187866957-187866958	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141580372	chr4:187866962-187866963	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs577069963	chr4:187866986-187866987	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs570249255	chr4:187866996-187866997	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539140087	chr4:187867042-187867043	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56811738	chr4:187867060-187867061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs541376560	chr4:187867078-187867079	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs569468945	chr4:187867101-187867102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs535754704	chr4:187867131-187867132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531519272	chr4:187867133-187867134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112081400	chr4:187867139-187867140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187914698	chr4:187867172-187867173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs192155376	chr4:187867180-187867181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs184471708	chr4:187867190-187867191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	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:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187858400-187867200	Weak transcription	Liver	Liver
2	chr4:187858600-187874800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:187858800-187869400	Weak transcription	NH-A	brain
4	chr4:187860400-187866800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:187860600-187867000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:187862000-187870000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr4:187863600-187866200	Enhancers	Fetal Intestine Large	intestine
8	chr4:187863600-187868400	Enhancers	Fetal Intestine Small	intestine
9	chr4:187863800-187868000	Enhancers	Duodenum Mucosa	Duodenum
10	chr4:187864400-187869600	Weak transcription	Adipose Nuclei	Adipose
11	chr4:187864600-187866400	Weak transcription	Pancreas	Pancrea
12	chr4:187864600-187869200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:187864600-187869600	Weak transcription	NHDF-Ad	bronchial
14	chr4:187864600-187869800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:187864600-187869800	Weak transcription	Left Ventricle	heart
16	chr4:187864600-187869800	Weak transcription	Right Atrium	heart
17	chr4:187864800-187867200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:187864800-187867200	Weak transcription	Brain Germinal Matrix	brain
19	chr4:187864800-187869200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr4:187864800-187869600	Weak transcription	Osteobl	bone
21	chr4:187864800-187874400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:187865000-187866200	Weak transcription	HSMM	muscle
23	chr4:187865000-187866400	Weak transcription	Small Intestine	intestine
24	chr4:187865000-187867200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr4:187865000-187868800	Weak transcription	Fetal Heart	heart
26	chr4:187865000-187869400	Weak transcription	HSMMtube	muscle
27	chr4:187865000-187869600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:187865000-187869800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:187865000-187869800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:187865200-187866400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:187865200-187867200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr4:187865200-187869400	Weak transcription	Fetal Lung	lung
33	chr4:187865200-187869800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:187865400-187866400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:187865400-187867400	Weak transcription	Fetal Muscle Leg	muscle
36	chr4:187865400-187869800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:187865400-187870200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:187865600-187866000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:187865600-187866800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr4:187865600-187867200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:187865600-187869600	Weak transcription	Fetal Kidney	kidney
42	chr4:187866000-187868400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:187866200-187866800	Weak transcription	Fetal Intestine Large	intestine
44	chr4:187866200-187869600	Enhancers	HSMM	muscle
45	chr4:187866400-187866600	Enhancers	Fetal Muscle Trunk	muscle
46	chr4:187866400-187866800	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr4:187866400-187868200	Enhancers	Small Intestine	intestine
48	chr4:187866400-187868600	Enhancers	Pancreas	Pancrea
49	chr4:187866800-187867000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:187866800-187867000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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