Variant report

Variant	nsv491939
Chromosome Location	chr6:45508319-45526327
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:41)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:24)

No data

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:45389558..45391981-chr6:45519430..45521358,2	MCF-7	breast:
2	chr6:45506273..45508464-chr6:45523681..45526573,2	MCF-7	breast:
3	chr6:45507659..45510027-chr6:45511136..45513669,2	K562	blood:
4	chr6:45507057..45510160-chr6:45510920..45514635,4	MCF-7	breast:
5	chr6:45388853..45391497-chr6:45525403..45526990,2	MCF-7	breast:
6	chr6:45512077..45515403-chr6:45517360..45519665,3	K562	blood:
7	chr6:45416687..45419671-chr6:45507233..45509746,2	K562	blood:
8	chr6:45506501..45508928-chr6:45515340..45517008,2	MCF-7	breast:
9	chr6:45517438..45520580-chr6:45520902..45524408,4	MCF-7	breast:
10	chr6:45506661..45509386-chr6:45511675..45515150,3	K562	blood:
11	chr21:26979413..26980209-chr6:45515504..45516268,2	MCF-7	breast:
12	chr6:45507659..45510027-chr6:45511136..45513669,2	K562	blood:
13	chr6:45345547..45347304-chr6:45521269..45524195,2	MCF-7	breast:
14	chr6:45510384..45512325-chr6:45518225..45520271,2	MCF-7	breast:
15	chr6:45490175..45491700-chr6:45519334..45521574,2	MCF-7	breast:
16	chr6:45510384..45512325-chr6:45518225..45520271,2	MCF-7	breast:
17	chr6:45521858..45524563-chr6:45528701..45531108,3	MCF-7	breast:
18	chr6:45388475..45392653-chr6:45521512..45524033,4	MCF-7	breast:
19	chr6:45390030..45390535-chr6:45522448..45522980,2	MCF-7	breast:
20	chr6:45506661..45509386-chr6:45511675..45515150,3	K562	blood:
21	chr6:45521062..45522747-chr6:45524709..45527300,2	K562	blood:
22	chr6:45517438..45520580-chr6:45520902..45524408,4	MCF-7	breast:
23	chr6:45521508..45523893-chr6:45680263..45683412,3	MCF-7	breast:
24	chr6:45389098..45392370-chr6:45517089..45519379,3	MCF-7	breast:
25	chr6:45521600..45524007-chr6:45539938..45542034,2	MCF-7	breast:
26	chr6:45505637..45508807-chr6:45512620..45514671,3	MCF-7	breast:
27	chr6:45507057..45510160-chr6:45510920..45514635,4	MCF-7	breast:
28	chr6:45519041..45522740-chr6:45522801..45525463,3	MCF-7	breast:
29	chr6:45522194..45524124-chr6:45553960..45556019,2	MCF-7	breast:
30	chr6:45525346..45527240-chr6:45531716..45533270,2	MCF-7	breast:
31	chr6:45503838..45505818-chr6:45507790..45509914,2	MCF-7	breast:
32	chr6:45519041..45522740-chr6:45522801..45525463,3	MCF-7	breast:
33	chr6:45506501..45508928-chr6:45515340..45517008,2	MCF-7	breast:
34	chr6:45506273..45508464-chr6:45523681..45526573,2	MCF-7	breast:
35	chr6:45519509..45521013-chr6:45524867..45526966,2	K562	blood:
36	chr6:45514521..45516700-chr6:45519579..45523207,3	MCF-7	breast:
37	chr6:45505637..45508807-chr6:45512620..45514671,3	MCF-7	breast:
38	chr6:45521062..45522747-chr6:45524709..45527300,2	K562	blood:
39	chr6:45512077..45515403-chr6:45517360..45519665,3	K562	blood:
40	chr6:45519509..45521013-chr6:45524867..45526966,2	K562	blood:
41	chr6:45514521..45516700-chr6:45519579..45523207,3	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SUPT3H-1	chr6:45524989-45525046	XLOC_005737
2	lnc-SUPT3H-1	chr6:45523580-45524895	XLOC_005737
3	lnc-SUPT3H-1	chr6:45523580-45524895	XLOC_005737

No data

(count:24 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	RUNX2	hsa-miR-30a-5p	chr6:45518501-45518523
2	RUNX2	hsa-miR-30b-5p	chr6:45518385-45518408
3	RUNX2	hsa-miR-433-3p	chr6:45518737-45518758
4	RUNX2	hsa-miR-204-5p	chr6:45518681-45518702
5	RUNX2	hsa-miR-204-5p	chr6:45518695-45518701
6	RUNX2	hsa-miR-335-5p	chr6:45516005-45516027
7	RUNX2	hsa-miR-30d-5p	chr6:45515256-45515278
8	RUNX2	hsa-miR-30d-5p	chr6:45518387-45518408
9	RUNX2	hsa-miR-30d-5p	chr6:45518501-45518523
10	RUNX2	hsa-miR-30a-5p	chr6:45518390-45518396
11	RUNX2	hsa-miR-30d-5p	chr6:45518390-45518396
12	RUNX2	hsa-miR-30a-5p	chr6:45518401-45518408
13	RUNX2	hsa-miR-30a-5p	chr6:45518387-45518408
14	RUNX2	hsa-miR-30d-5p	chr6:45518378-45518397
15	RUNX2	hsa-miR-30a-5p	chr6:45518378-45518397
16	RUNX2	hsa-miR-30b-5p	chr6:45518390-45518396
17	RUNX2	hsa-miR-338-3p	chr6:45516272-45516291
18	RUNX2	hsa-miR-30d-5p	chr6:45518401-45518408
19	RUNX2	hsa-miR-30b-5p	chr6:45515256-45515278
20	RUNX2	hsa-miR-30a-5p	chr6:45515256-45515278
21	RUNX2	hsa-miR-338-3p	chr6:45516284-45516291
22	RUNX2	hsa-miR-204-5p	chr6:45515505-45515528
23	RUNX2	hsa-miR-30b-5p	chr6:45518401-45518408
24	RUNX2	hsa-miR-155-5p	chr6:45518236-45518256

Variant related genes	Relation type
ENSG00000154719	chromatin interactions
ENSG00000196284	chromatin interactions
ENSG00000124813	chromatin interactions
ENSG00000271857	chromatin interactions
FAM102A	miRNA target sites

Extended variants
information (count: 638 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:638 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549401844	chr6:45508381-45508382	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567699033	chr6:45508402-45508403	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535561764	chr6:45508420-45508421	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78504702	chr6:45508449-45508450	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568341655	chr6:45508450-45508451	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539599802	chr6:45508463-45508464	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs558329153	chr6:45508530-45508531	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576848748	chr6:45508533-45508534	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184369598	chr6:45508573-45508574	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555826268	chr6:45508598-45508599	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62400376	chr6:45508609-45508610	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs567250385	chr6:45508620-45508621	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541527667	chr6:45508729-45508730	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189121855	chr6:45508797-45508798	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572278683	chr6:45508830-45508831	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143857678	chr6:45508842-45508843	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115281279	chr6:45508861-45508862	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563924385	chr6:45508870-45508871	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534775592	chr6:45508871-45508872	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181534988	chr6:45508899-45508900	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557111219	chr6:45508903-45508904	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35035086	chr6:45508904-45508905	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576877550	chr6:45508907-45508908	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528845588	chr6:45508933-45508934	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547475065	chr6:45508972-45508973	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565686181	chr6:45508979-45508980	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539508279	chr6:45509014-45509015	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185695026	chr6:45509016-45509017	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570239008	chr6:45509024-45509025	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs537760419	chr6:45509035-45509036	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190555595	chr6:45509047-45509048	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574091636	chr6:45509112-45509113	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs180947602	chr6:45509124-45509125	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185938209	chr6:45509146-45509147	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs578063645	chr6:45509166-45509167	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141034665	chr6:45509194-45509195	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144882082	chr6:45509198-45509199	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575798695	chr6:45509203-45509204	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543325564	chr6:45509212-45509213	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539475789	chr6:45509245-45509246	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113912349	chr6:45509261-45509262	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552706945	chr6:45509291-45509292	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561605137	chr6:45509292-45509293	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558105032	chr6:45509328-45509329	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201174814	chr6:45509335-45509336	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs147510564	chr6:45509427-45509428	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578019529	chr6:45509472-45509473	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188702766	chr6:45509500-45509501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs12202440	chr6:45509540-45509541	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551471090	chr6:45509545-45509546	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	21510904	CNVD
Cleidocranial dysplasia	20014132	CNVD
Non-small cell lung cancer	17429853	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45465000-45521600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:45481400-45514600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:45482800-45514800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:45484400-45509400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr6:45484400-45514600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:45489000-45521800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:45493200-45516200	Weak transcription	Hela-S3	cervix
8	chr6:45498600-45514600	Weak transcription	Dnd41	blood
9	chr6:45500200-45513800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:45500600-45514600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr6:45500600-45516600	Weak transcription	Small Intestine	intestine
12	chr6:45501200-45510600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:45501400-45509600	Strong transcription	HSMM	muscle
14	chr6:45501600-45509400	Weak transcription	HSMMtube	muscle
15	chr6:45501600-45509800	Weak transcription	NHLF	lung
16	chr6:45502000-45516200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:45503000-45514600	Weak transcription	Esophagus	oesophagus
18	chr6:45504200-45509400	Weak transcription	K562	blood
19	chr6:45504200-45514600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:45504400-45509400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:45504600-45513200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:45505000-45509800	Weak transcription	NH-A	brain
23	chr6:45505000-45510800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:45505400-45509000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr6:45505400-45512200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr6:45506000-45514400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:45506000-45514600	Weak transcription	Pancreas	Pancrea
28	chr6:45506400-45508400	Enhancers	HepG2	liver
29	chr6:45506600-45509600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:45506800-45509600	Weak transcription	Osteobl	bone
31	chr6:45506800-45510000	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:45506800-45514600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:45506800-45514600	Weak transcription	Gastric	stomach
34	chr6:45506800-45523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr6:45507000-45509800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr6:45507200-45509400	Weak transcription	NHDF-Ad	bronchial
37	chr6:45507200-45509600	Weak transcription	Fetal Lung	lung
38	chr6:45507400-45509800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:45507400-45518800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr6:45507800-45508600	Enhancers	Fetal Thymus	thymus
41	chr6:45507800-45509400	Weak transcription	Right Atrium	heart
42	chr6:45507800-45509600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:45507800-45509800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:45508000-45508400	Strong transcription	Primary hematopoietic stem cells	blood
45	chr6:45508000-45508400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:45508000-45508600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:45508000-45508800	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr6:45508000-45508800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr6:45508000-45509400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:45508200-45510200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links