Variant report

Variant	nsv562749
Chromosome Location	chr13:94083352-94263206
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:8)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:94130713..94132921-chr13:94134439..94135999,2	K562	blood:
2	chr13:94151315..94153018-chr13:94160965..94162525,2	MCF-7	breast:
3	chr13:94130713..94132921-chr13:94134439..94135999,2	K562	blood:
4	chr13:94115203..94116046-chr5:54736109..54737038,2	MCF-7	breast:
5	chr13:94173270..94175976-chr13:94179967..94182735,2	MCF-7	breast:
6	chr13:94151315..94153018-chr13:94160965..94162525,2	MCF-7	breast:
7	chr13:94173270..94175976-chr13:94179967..94182735,2	MCF-7	breast:
8	chr13:94234119..94234981-chr3:29063764..29064299,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-6	chr13:94163893-94166198	ucscGeneNc_uc001vmb_1
2	lnc-DCT-15	chr13:94150943-94150992	NONHSAT034712
3	lnc-DCT-15	chr13:94151520-94153117	NONHSAT034712
4	lnc-GPC5-6	chr13:94162971-94163648	ucscGeneNc_uc001vmb_1
5	lnc-DCT-15	chr13:94149949-94150144	NONHSAT034712

No data

Extended variants
information (count: 5899 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:5899 , 50 per page) page: 1 2 3 4 5 6 7 ... 118

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7998675	chr13:94083352-94083353	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs556555600	chr13:94083382-94083383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189709110	chr13:94083387-94083388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7999482	chr13:94083436-94083437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs74735633	chr13:94083478-94083479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7999019	chr13:94083536-94083537	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs1445269	chr13:94083539-94083540	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564816237	chr13:94083581-94083582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542209941	chr13:94083612-94083613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560431365	chr13:94083619-94083620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577097841	chr13:94083626-94083627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546107988	chr13:94083672-94083673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562662585	chr13:94083678-94083679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201550796	chr13:94083694-94083695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531592926	chr13:94083699-94083700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547879700	chr13:94083717-94083718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568575330	chr13:94083823-94083824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141319897	chr13:94083849-94083850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375093419	chr13:94083862-94083863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77506390	chr13:94083901-94083902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527423578	chr13:94083953-94083954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547073401	chr13:94083955-94083956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2762123	chr13:94083959-94083960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs539665384	chr13:94083996-94083997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs17189012	chr13:94084004-94084005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570265336	chr13:94084007-94084008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142386566	chr13:94084009-94084010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74108529	chr13:94084016-94084017	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs16948800	chr13:94084045-94084046	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs564510999	chr13:94084092-94084093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535158527	chr13:94084129-94084130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115815914	chr13:94084134-94084135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17267738	chr13:94084172-94084173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs143290532	chr13:94084181-94084182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181207231	chr13:94084204-94084205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576305503	chr13:94084208-94084209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs9524059	chr13:94084291-94084292	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs16948803	chr13:94084293-94084294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs148297558	chr13:94084314-94084315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546958199	chr13:94084338-94084339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17267745	chr13:94084339-94084340	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs77321325	chr13:94084367-94084368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570532163	chr13:94084402-94084403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs572302748	chr13:94084432-94084433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539616439	chr13:94084446-94084447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375868690	chr13:94084455-94084456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs186212750	chr13:94084464-94084465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2590536	chr13:94084515-94084516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549684700	chr13:94084528-94084529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372987655	chr13:94084538-94084539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Metanephric adenoma	20802469	CNVD
Gastric cancer	17908304	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	17603634	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94073400-94086000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:94078400-94087400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:94081000-94090800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:94082000-94083600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr13:94082400-94084400	Enhancers	Fetal Lung	lung
6	chr13:94082800-94085600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:94084400-94084800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr13:94087800-94088000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:94087800-94088400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr13:94087800-94088600	Enhancers	A549	lung
11	chr13:94090000-94090800	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr13:94090800-94091800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr13:94092600-94092800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr13:94092800-94104800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr13:94095800-94098200	Enhancers	Fetal Heart	heart
16	chr13:94097000-94099000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:94098000-94098200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:94098000-94099000	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr13:94098200-94098600	Weak transcription	Fetal Heart	heart
20	chr13:94098200-94099000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr13:94098600-94098800	Enhancers	Fetal Heart	heart
22	chr13:94098600-94099000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:94098600-94099000	Enhancers	Fetal Kidney	kidney
24	chr13:94098800-94099000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr13:94098800-94099800	Weak transcription	Fetal Heart	heart
26	chr13:94099000-94102600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr13:94099800-94100400	Enhancers	Fetal Heart	heart
28	chr13:94101800-94103000	Enhancers	Ovary	ovary
29	chr13:94102200-94102400	Enhancers	Esophagus	oesophagus
30	chr13:94102200-94102800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr13:94102200-94103000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:94102200-94103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:94102200-94103000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:94102200-94103000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr13:94102200-94103000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr13:94102200-94103200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:94102200-94103400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:94102600-94102800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr13:94102600-94103000	Enhancers	HSMM	muscle
40	chr13:94102600-94103000	Enhancers	Osteobl	bone
41	chr13:94102600-94103200	Enhancers	HMEC	breast
42	chr13:94102600-94103600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr13:94102800-94103400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr13:94103000-94105200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr13:94104800-94105800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:94105400-94107600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:94105800-94107800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:94106800-94109000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr13:94107000-94107600	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr13:94107200-94107800	Active TSS	Fetal Stomach	stomach

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