Variant report

Variant	nsv877041
Chromosome Location	chr3:82074024-82363196
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:11)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:82338513..82340160-chr3:82342810..82345015,2	MCF-7	breast:
2	chr3:82182859..82185317-chr3:82190117..82192068,2	MCF-7	breast:
3	chr3:82134680..82135474-chr3:82182067..82182736,2	MCF-7	breast:
4	chr3:82170424..82171997-chr3:82175422..82177557,2	MCF-7	breast:
5	chr3:82134680..82135474-chr3:82182067..82182736,2	MCF-7	breast:
6	chr3:82338513..82340160-chr3:82342810..82345015,2	MCF-7	breast:
7	chr14:65016669..65017169-chr3:82090480..82091058,2	MCF-7	breast:
8	chr3:82182859..82185317-chr3:82190117..82192068,2	MCF-7	breast:
9	chr3:81630866..81631772-chr3:82182178..82183039,2	MCF-7	breast:
10	chr3:82170424..82171997-chr3:82175422..82177557,2	MCF-7	breast:
11	chr3:82044423..82045130-chr3:82182277..82182777,2	MCF-7	breast:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CADM2-6	chr3:82251480-82251605	NONHSAT090628
2	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440
3	lnc-CADM2-6	chr3:82234526-82234604	NONHSAT090628
4	lnc-CADM2-13	chr3:82334170-82334295	ucscGeneNc_uc003dqh_1
5	lnc-CADM2-13	chr3:82117979-82118222	ucscGeneNc_uc003dqh_1
6	lnc-CADM2-6	chr3:82234503-82234604	ENSG00000239440
7	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
8	lnc-CADM2-6	chr3:82251480-82251605	ENSG00000239440
9	lnc-CADM2-13	chr3:82317193-82317294	ucscGeneNc_uc003dqh_1
10	lnc-CADM2-6	chr3:82091876-82091941	ENSG00000239440

No data

Variant related genes	Relation type
ENSG00000165807	chromatin interactions
YWHAH	miRNA target sites
ZFP91	miRNA target sites
PIM3	miRNA target sites
TNFAIP3	miRNA target sites
ERO1LB	miRNA target sites

Extended variants
information (count: 5373 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:5373 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17784061	chr3:82074024-82074025	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180792285	chr3:82074153-82074154	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529440739	chr3:82074168-82074169	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs548503957	chr3:82074333-82074334	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139764168	chr3:82074398-82074399	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs576946257	chr3:82074399-82074400	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374746271	chr3:82074428-82074429	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557142284	chr3:82074442-82074443	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570923353	chr3:82074445-82074446	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539543892	chr3:82074453-82074454	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545877145	chr3:82074600-82074601	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs62265753	chr3:82074672-82074673	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186039199	chr3:82074696-82074697	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs72897666	chr3:82074703-82074704	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576354422	chr3:82074706-82074707	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs77325997	chr3:82074714-82074715	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs555742782	chr3:82074746-82074747	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542158310	chr3:82074753-82074754	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs550963976	chr3:82074755-82074756	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs369104566	chr3:82074790-82074791	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs372953178	chr3:82074806-82074807	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs544476879	chr3:82074815-82074816	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs190107835	chr3:82074824-82074825	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562251682	chr3:82074838-82074839	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532954413	chr3:82074887-82074888	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs546305788	chr3:82074908-82074909	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs559577543	chr3:82074944-82074945	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs150820063	chr3:82074966-82074967	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9876340	chr3:82074985-82074986	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs76464190	chr3:82074994-82074995	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs145138415	chr3:82075018-82075019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530811260	chr3:82075051-82075052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531126775	chr3:82075063-82075064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139234328	chr3:82075081-82075082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73841289	chr3:82075154-82075155	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571054795	chr3:82075221-82075222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539631623	chr3:82075224-82075225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150014695	chr3:82075300-82075301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377292979	chr3:82075325-82075326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566443997	chr3:82075360-82075361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535493294	chr3:82075363-82075364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116939351	chr3:82075406-82075407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547141805	chr3:82075447-82075448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376270409	chr3:82075449-82075450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548028782	chr3:82075468-82075469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564651007	chr3:82075508-82075509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145221703	chr3:82075509-82075510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182706058	chr3:82075524-82075525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557744370	chr3:82075566-82075567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577802074	chr3:82075626-82075627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Melanoma	18172304	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Acute myeloid leukemia	20729466	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Colorectal cancer	16272173	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Soft tissue tumor	16732325	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	17124404	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Autism	20808228	CNVD
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:82072000-82074600	Weak transcription	Ovary	ovary
2	chr3:82073600-82080000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr3:82073800-82074200	Flanking Active TSS	GM12878-XiMat	blood
4	chr3:82073800-82075000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr3:82074000-82074600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:82074000-82074800	Active TSS	Primary B cells from cord blood	blood
7	chr3:82074200-82074600	Enhancers	GM12878-XiMat	blood
8	chr3:82074600-82074800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:82074600-82075000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr3:82074600-82075000	Enhancers	Primary B cells from peripheral blood	blood
11	chr3:82074600-82075000	Enhancers	Ovary	ovary
12	chr3:82074600-82075000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr3:82074800-82075000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr3:82075000-82075200	Enhancers	Primary B cells from cord blood	blood
15	chr3:82075000-82079800	Weak transcription	Ovary	ovary
16	chr3:82078400-82079000	Enhancers	HepG2	liver
17	chr3:82078400-82079200	Enhancers	Fetal Muscle Leg	muscle
18	chr3:82079200-82079600	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:82079600-82079800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:82079600-82079800	Enhancers	Brain Angular Gyrus	brain
21	chr3:82079600-82079800	Enhancers	Brain Substantia Nigra	brain
22	chr3:82079600-82080000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:82079600-82080000	Enhancers	Brain Cingulate Gyrus	brain
24	chr3:82079600-82080000	Enhancers	Brain Hippocampus Middle	brain
25	chr3:82079600-82080400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr3:82079600-82080600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:82079600-82081000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr3:82079600-82081000	Enhancers	Fetal Muscle Leg	muscle
29	chr3:82079600-82082200	Enhancers	Brain Germinal Matrix	brain
30	chr3:82079600-82082600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:82079800-82080000	Enhancers	Brain Anterior Caudate	brain
32	chr3:82079800-82080000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:82079800-82080000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr3:82079800-82080000	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr3:82079800-82080200	Enhancers	HMEC	breast
36	chr3:82079800-82080400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:82079800-82080400	Flanking Active TSS	Brain Angular Gyrus	brain
38	chr3:82079800-82080600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:82079800-82080600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:82079800-82080800	Enhancers	Fetal Stomach	stomach
41	chr3:82079800-82080800	Enhancers	Psoas Muscle	Psoas
42	chr3:82079800-82081200	Enhancers	Ovary	ovary
43	chr3:82080000-82080400	Active TSS	Brain Anterior Caudate	brain
44	chr3:82080000-82080400	Flanking Active TSS	Brain Cingulate Gyrus	brain
45	chr3:82080000-82080400	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr3:82080000-82080400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr3:82080000-82080600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:82080000-82080600	Active TSS	Brain Substantia Nigra	brain
49	chr3:82080000-82080800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr3:82080200-82080800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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