Variant report

Variant	nsv462610
Chromosome Location	chr6:1577436-1598157
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:17)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:1587793..1589661-chr6:1594965..1596787,2	K562	blood:
2	chr6:1587793..1589661-chr6:1594965..1596787,2	K562	blood:
3	chr6:1596534..1597143-chr6:2353875..2354387,2	MCF-7	breast:
4	chr6:1562807..1565636-chr6:1576227..1578363,2	K562	blood:
5	chr6:1596675..1597218-chr6:2396217..2396777,2	K562	blood:
6	chr6:1596198..1597096-chr6:2448736..2449270,3	K562	blood:
7	chr6:1596149..1597077-chr6:2353625..2354389,3	K562	blood:
8	chr6:1596437..1597102-chr6:1604182..1604768,2	K562	blood:
9	chr6:1598107..1600931-chr6:1602423..1604721,2	MCF-7	breast:
10	chr6:1557340..1559925-chr6:1576437..1579057,2	MCF-7	breast:
11	chr6:1597053..1598701-chr6:2028381..2030962,2	MCF-7	breast:
12	chr6:1596589..1597091-chr6:2750344..2750861,2	MCF-7	breast:
13	chr6:1596621..1597508-chr6:2634422..2634959,3	K562	blood:
14	chr6:1596186..1596789-chr6:2396672..2397233,2	MCF-7	breast:
15	chr6:1596448..1597066-chr6:2196065..2196888,2	MCF-7	breast:
16	chr6:1536939..1538440-chr6:1580470..1582016,2	K562	blood:
17	chr6:1596571..1597477-chr6:2104218..2105175,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FOXC1-4	chr6:1578148-1578195	NONHSAT106523
2	lnc-GMDS-6	chr6:1586822-1587044	NONHSAT106514
3	lnc-GMDS-6	chr6:1587779-1588575	NONHSAT106516
4	lnc-FOXC1-4	chr6:1579129-1582804	NONHSAT106522
5	lnc-FOXC1-4	chr6:1578148-1578195	NONHSAT106522
6	lnc-GMDS-6	chr6:1587576-1587798	NONHSAT106515
7	lnc-FOXC1-4	chr6:1577443-1577559	NONHSAT106522
8	lnc-GMDS-6	chr6:1585165-1590367	NONHSAT106525
9	lnc-GMDS-6	chr6:1587025-1587821	NONHSAT106513
10	lnc-GMDS-6	chr6:1592239-1592732	NONHSAT106525
11	lnc-GMDS-6	chr6:1593901-1594006	NONHSAT106525
12	lnc-FOXC1-4	chr6:1577443-1577559	NONHSAT106523

No data

Variant related genes	Relation type
ENSG00000164385	chromatin interactions

Extended variants
information (count: 990 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:990 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6934209	chr6:1577436-1577437	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs7769207	chr6:1577449-1577450	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
3	rs536728182	chr6:1577461-1577462	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
4	rs572661364	chr6:1577466-1577467	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
5	rs541674335	chr6:1577497-1577498	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
6	rs564421128	chr6:1577524-1577525	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
7	rs533511319	chr6:1577525-1577526	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
8	rs141922670	chr6:1577535-1577536	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
9	rs563655554	chr6:1577543-1577544	Weak transcription Enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
10	rs2569838	chr6:1577662-1577663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115548302	chr6:1577693-1577694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs561679900	chr6:1577698-1577699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs527459865	chr6:1577721-1577722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368602407	chr6:1577727-1577728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547235007	chr6:1577729-1577730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187670116	chr6:1577738-1577739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539478177	chr6:1577807-1577808	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192773232	chr6:1577809-1577810	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535807704	chr6:1577842-1577843	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569600239	chr6:1577931-1577932	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184689076	chr6:1577932-1577933	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138270706	chr6:1577989-1577990	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs117920994	chr6:1577991-1577992	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535223322	chr6:1578001-1578002	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs558292550	chr6:1578006-1578007	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs187324708	chr6:1578013-1578014	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191961858	chr6:1578023-1578024	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs563644644	chr6:1578078-1578079	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs573679752	chr6:1578097-1578098	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs542637692	chr6:1578103-1578104	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs371432863	chr6:1578105-1578106	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184566044	chr6:1578124-1578125	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs79995358	chr6:1578156-1578157	Weak transcription Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs564258997	chr6:1578191-1578192	Weak transcription Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs533002492	chr6:1578193-1578194	Weak transcription Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs549832355	chr6:1578194-1578195	Weak transcription Flanking Active TSS Bivalent/Poised TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs201347048	chr6:1578197-1578198	Weak transcription Flanking Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs569679625	chr6:1578203-1578204	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535441942	chr6:1578290-1578291	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549041732	chr6:1578295-1578296	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199621158	chr6:1578312-1578313	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75147648	chr6:1578315-1578316	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs370045840	chr6:1578316-1578317	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs77726521	chr6:1578320-1578321	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565689957	chr6:1578322-1578323	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189329306	chr6:1578392-1578393	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558191805	chr6:1578405-1578406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs58172196	chr6:1578433-1578434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537277786	chr6:1578465-1578466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557403347	chr6:1578470-1578471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Prader-willi syndrome	20588305	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Developmental delay	19490664	CNVD
Cancer	21183584	CNVD
Multiple Epiphyseal Dysplasia	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Glaucoma	18694899	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
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
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
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	20164919	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:1575400-1577600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:1576000-1579800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:1576000-1585600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:1576200-1577600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:1576200-1577800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr6:1576200-1580200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr6:1576400-1579600	Weak transcription	HSMMtube	muscle
8	chr6:1576600-1577800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:1576600-1577800	Weak transcription	Osteobl	bone
10	chr6:1576600-1578200	Weak transcription	GM12878-XiMat	blood
11	chr6:1576600-1579600	Weak transcription	Fetal Thymus	thymus
12	chr6:1576600-1596400	Weak transcription	Right Atrium	heart
13	chr6:1576800-1578000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:1576800-1579200	Weak transcription	Brain Anterior Caudate	brain
15	chr6:1576800-1579400	Weak transcription	Brain Angular Gyrus	brain
16	chr6:1577000-1578400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr6:1577000-1578800	Weak transcription	Brain Substantia Nigra	brain
18	chr6:1577000-1579200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:1577000-1579400	Weak transcription	Brain Hippocampus Middle	brain
20	chr6:1577200-1578800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr6:1577400-1577600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr6:1577600-1578600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:1577800-1578000	Enhancers	Osteobl	bone
24	chr6:1577800-1578200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:1577800-1578400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:1577800-1580000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:1578000-1578400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr6:1578000-1578400	Flanking Active TSS	Osteobl	bone
29	chr6:1578200-1579400	Enhancers	GM12878-XiMat	blood
30	chr6:1578400-1578600	Enhancers	Brain Cingulate Gyrus	brain
31	chr6:1578400-1578800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:1578400-1579000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:1578400-1580800	Enhancers	Osteobl	bone
34	chr6:1578600-1579000	Enhancers	Primary B cells from peripheral blood	blood
35	chr6:1578600-1579000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr6:1578600-1582400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:1578800-1579400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:1578800-1580400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:1578800-1580600	Enhancers	Brain Substantia Nigra	brain
40	chr6:1579000-1580200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:1579000-1582600	Enhancers	Brain Cingulate Gyrus	brain
42	chr6:1579200-1579800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:1579200-1580200	Enhancers	Brain Anterior Caudate	brain
44	chr6:1579400-1579800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:1579400-1579800	Enhancers	Fetal Muscle Leg	muscle
46	chr6:1579400-1580200	Enhancers	Brain Hippocampus Middle	brain
47	chr6:1579400-1580400	Enhancers	Brain Angular Gyrus	brain
48	chr6:1579400-1582600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr6:1579600-1580000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr6:1579600-1580400	Enhancers	HSMMtube	muscle

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