Variant report

Variant	esv34733
Chromosome Location	chr4:187857192-187878165
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:
2	chr4:187647203..187650083-chr4:187858614..187861044,2	MCF-7	breast:
3	chr4:187658603..187659281-chr4:187867789..187868472,2	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	chr4:187641888..187650885-chr4:187865376..187870322,9	MCF-7	breast:
7	chr4:187867875..187869719-chr4:187871363..187873618,2	MCF-7	breast:
8	chr4:187648351..187650879-chr4:187855816..187858244,2	MCF-7	breast:
9	chr4:187648031..187648672-chr4:187867515..187868384,2	MCF-7	breast:
10	chr4:187645972..187647664-chr4:187867143..187868450,8	MCF-7	breast:
11	chr4:187646857..187647583-chr4:187867241..187868105,3	MCF-7	breast:
12	chr4:187867684..187870026-chr4:187872421..187875152,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 883 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:883 , 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	rs1158815	chr4:187857192-187857193	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374098287	chr4:187857207-187857208	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs558108377	chr4:187857220-187857221	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs72719504	chr4:187857244-187857245	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs189969719	chr4:187857277-187857278	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs564937321	chr4:187857301-187857302	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs573850909	chr4:187857337-187857338	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542923823	chr4:187857374-187857375	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553217307	chr4:187857388-187857389	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs141826875	chr4:187857428-187857429	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544709245	chr4:187857460-187857461	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35703544	chr4:187857468-187857469	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs150649060	chr4:187857470-187857471	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs139763121	chr4:187857473-187857474	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181192318	chr4:187857492-187857493	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs561071165	chr4:187857497-187857498	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs143505174	chr4:187857515-187857516	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs529878039	chr4:187857526-187857527	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187064085	chr4:187857530-187857531	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs566797626	chr4:187857550-187857551	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs532421427	chr4:187857556-187857557	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs35758965	chr4:187857562-187857563	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs66466924	chr4:187857566-187857567	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs114443195	chr4:187857567-187857568	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs397879942	chr4:187857569-187857570	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs149730241	chr4:187857581-187857582	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537151659	chr4:187857588-187857589	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs533128767	chr4:187857614-187857615	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs556996894	chr4:187857632-187857633	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs150149749	chr4:187857640-187857641	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567536785	chr4:187857657-187857658	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs536419831	chr4:187857686-187857687	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs372466049	chr4:187857695-187857696	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12501696	chr4:187857710-187857711	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs573495685	chr4:187857716-187857717	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs560142906	chr4:187857823-187857824	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs139617937	chr4:187857833-187857834	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs114460728	chr4:187857834-187857835	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs544337712	chr4:187857892-187857893	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560934498	chr4:187857925-187857926	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs574560592	chr4:187857947-187857948	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs540468102	chr4:187857951-187857952	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs77594855	chr4:187858028-187858029	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs377000424	chr4:187858075-187858076	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs145302081	chr4:187858100-187858101	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs552399803	chr4:187858133-187858134	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs80047930	chr4:187858143-187858144	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs530901693	chr4:187858170-187858171	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs200485026	chr4:187858181-187858182	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs5865020	chr4:187858183-187858184	Weak transcription Enhancers Active TSS Flanking Active TSS	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:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187837200-187863800	Weak transcription	Right Atrium	heart
2	chr4:187851800-187857800	Enhancers	Osteobl	bone
3	chr4:187853200-187858400	Enhancers	Fetal Lung	lung
4	chr4:187853400-187857800	Enhancers	Fetal Kidney	kidney
5	chr4:187854200-187858400	Enhancers	NHDF-Ad	bronchial
6	chr4:187854600-187857800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:187855000-187857800	Weak transcription	HSMM	muscle
8	chr4:187855000-187864000	Weak transcription	HSMMtube	muscle
9	chr4:187855200-187863600	Weak transcription	Fetal Heart	heart
10	chr4:187855400-187857400	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr4:187855400-187857400	Weak transcription	NHLF	lung
12	chr4:187855400-187857800	Enhancers	Stomach Mucosa	stomach
13	chr4:187855600-187857600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr4:187855600-187858200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:187855600-187858600	Weak transcription	Lung	lung
16	chr4:187855800-187857400	Enhancers	Colonic Mucosa	Colon
17	chr4:187855800-187858800	Enhancers	HMEC	breast
18	chr4:187856000-187858200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:187856200-187857800	Enhancers	HepG2	liver
20	chr4:187856400-187857200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:187856400-187857400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr4:187856400-187857600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:187856400-187860000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr4:187856600-187857200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr4:187856600-187857400	Enhancers	Pancreas	Pancrea
26	chr4:187856600-187857600	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:187856600-187857800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:187856600-187858000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr4:187856800-187857800	Enhancers	Colon Smooth Muscle	Colon
30	chr4:187857000-187857200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:187857000-187857200	Flanking Active TSS	Fetal Intestine Large	intestine
32	chr4:187857000-187857200	Enhancers	Fetal Muscle Leg	muscle
33	chr4:187857000-187857200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr4:187857000-187857200	Enhancers	NH-A	brain
35	chr4:187857000-187857200	Enhancers	NHEK	skin
36	chr4:187857000-187857400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr4:187857000-187857400	Flanking Active TSS	Duodenum Mucosa	Duodenum
38	chr4:187857000-187857400	Flanking Active TSS	Fetal Intestine Small	intestine
39	chr4:187857000-187857600	Enhancers	Aorta	Aorta
40	chr4:187857000-187857600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr4:187857000-187857600	Enhancers	Stomach Smooth Muscle	stomach
42	chr4:187857000-187857600	Enhancers	A549	lung
43	chr4:187857000-187857800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:187857000-187857800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:187857200-187857600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:187857200-187857600	Enhancers	Fetal Intestine Large	intestine
47	chr4:187857200-187857600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr4:187857200-187857600	Weak transcription	NH-A	brain
49	chr4:187857200-187857600	Weak transcription	NHEK	skin
50	chr4:187857200-187858200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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