Variant report

Variant	nsv878603
Chromosome Location	chr4:8289807-8312158
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:8312041..8314245-chr4:8317234..8319161,2	K562	blood:
2	chr4:8296392..8301185-chr4:8301650..8305548,7	K562	blood:
3	chr4:8292974..8294945-chr4:8297191..8300156,2	MCF-7	breast:
4	chr4:8306129..8312354-chr4:8314662..8318399,6	MCF-7	breast:
5	chr4:8303617..8305448-chr4:8311831..8313564,2	MCF-7	breast:
6	chr4:8307182..8308788-chr4:8428726..8431474,2	K562	blood:
7	chr4:8292974..8294945-chr4:8297191..8300156,2	MCF-7	breast:
8	chr4:8311363..8313807-chr4:8315101..8317109,2	K562	blood:
9	chr4:8308134..8310233-chr4:8366379..8367956,2	K562	blood:
10	chr4:8285233..8287238-chr4:8291804..8293316,2	K562	blood:
11	chr4:8296392..8301185-chr4:8301650..8305548,7	K562	blood:
12	chr4:8286640..8289515-chr4:8304226..8307184,3	K562	blood:
13	chr4:8298648..8301351-chr4:8301650..8306230,4	K562	blood:
14	chr4:8303617..8305448-chr4:8311831..8313564,2	MCF-7	breast:
15	chr4:8298648..8301351-chr4:8301650..8306230,4	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HTRA3	hsa-miR-124-3p	chr4:8297797-8297818

Variant related genes	Relation type
ENSG00000087008	chromatin interactions

Extended variants
information (count: 1193 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1193 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9985550	chr4:8289807-8289808	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs534945915	chr4:8289809-8289810	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565724922	chr4:8289888-8289889	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552677916	chr4:8289891-8289892	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs4263384	chr4:8289904-8289905	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73801719	chr4:8289915-8289916	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140368280	chr4:8289916-8289917	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575421178	chr4:8289917-8289918	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182494126	chr4:8289918-8289919	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538352977	chr4:8289933-8289934	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142710199	chr4:8289958-8289959	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115636642	chr4:8289988-8289989	Weak transcription Flanking Active TSS Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528761816	chr4:8290022-8290023	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376457359	chr4:8290036-8290037	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187965542	chr4:8290037-8290038	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9985994	chr4:8290040-8290041	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs55884296	chr4:8290056-8290057	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550569200	chr4:8290094-8290095	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571717335	chr4:8290104-8290105	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369822966	chr4:8290108-8290109	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568998297	chr4:8290116-8290117	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371655399	chr4:8290125-8290126	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533513429	chr4:8290161-8290162	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs552064801	chr4:8290191-8290192	Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570660998	chr4:8290234-8290235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534531728	chr4:8290288-8290289	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150425489	chr4:8290292-8290293	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35966094	chr4:8290302-8290303	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397992206	chr4:8290316-8290317	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111629819	chr4:8290341-8290342	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535400129	chr4:8290390-8290391	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35562195	chr4:8290397-8290398	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200621345	chr4:8290410-8290411	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9997892	chr4:8290434-8290435	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs575410382	chr4:8290461-8290462	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554483134	chr4:8290573-8290574	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192369292	chr4:8290580-8290581	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202091323	chr4:8290605-8290606	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374568101	chr4:8290619-8290620	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7375908	chr4:8290622-8290623	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10028898	chr4:8290626-8290627	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs572526074	chr4:8290642-8290643	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540471771	chr4:8290659-8290660	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113767819	chr4:8290672-8290673	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10000359	chr4:8290676-8290677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544194958	chr4:8290678-8290679	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562570527	chr4:8290690-8290691	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200438300	chr4:8290697-8290698	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7664198	chr4:8290708-8290709	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs551817375	chr4:8290725-8290726	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:370 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8279000-8317200	Weak transcription	Gastric	stomach
2	chr4:8281400-8292800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:8283800-8290600	Weak transcription	HSMMtube	muscle
4	chr4:8283800-8296600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr4:8283800-8296600	Weak transcription	Colon Smooth Muscle	Colon
6	chr4:8283800-8297000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:8283800-8305200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:8284000-8293400	Weak transcription	Adipose Nuclei	Adipose
9	chr4:8284200-8296400	Weak transcription	Fetal Lung	lung
10	chr4:8285400-8296800	Weak transcription	Colonic Mucosa	Colon
11	chr4:8285800-8292800	Weak transcription	Spleen	Spleen
12	chr4:8285800-8299400	Strong transcription	Placenta Amnion	Placenta Amnion
13	chr4:8285800-8305600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr4:8286000-8290000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr4:8286000-8296600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:8286000-8299000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:8287800-8290000	Enhancers	Fetal Heart	heart
18	chr4:8287800-8294800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:8287800-8296000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:8287800-8300600	Strong transcription	Fetal Stomach	stomach
21	chr4:8288000-8290000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr4:8288000-8299200	Strong transcription	Fetal Muscle Leg	muscle
23	chr4:8288400-8299200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr4:8288600-8307800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:8289000-8291200	Weak transcription	Right Ventricle	heart
26	chr4:8289000-8296800	Weak transcription	Left Ventricle	heart
27	chr4:8289600-8290200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr4:8289600-8290600	Weak transcription	Ovary	ovary
29	chr4:8289800-8291600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:8290000-8291000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:8290000-8291400	Weak transcription	Fetal Muscle Trunk	muscle
32	chr4:8290000-8296400	Weak transcription	Fetal Heart	heart
33	chr4:8290200-8290800	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr4:8290400-8294200	Weak transcription	Fetal Intestine Large	intestine
35	chr4:8290600-8298400	Strong transcription	Ovary	ovary
36	chr4:8290800-8291000	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:8291000-8292000	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr4:8291000-8297200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:8291200-8300000	Strong transcription	Right Ventricle	heart
40	chr4:8291400-8299200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr4:8291600-8292000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:8292000-8292600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr4:8292000-8292800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:8292600-8296800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:8292800-8293200	Strong transcription	Spleen	Spleen
46	chr4:8292800-8294000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:8292800-8294200	Strong transcription	Fetal Intestine Small	intestine
48	chr4:8293200-8296600	Weak transcription	Spleen	Spleen
49	chr4:8293400-8298600	Strong transcription	Adipose Nuclei	Adipose
50	chr4:8293400-8299600	Weak transcription	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links