Variant report

Variant	nsv933458
Chromosome Location	chr13:94218204-94289242
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:94234119..94234981-chr3:29063764..29064299,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC5-7	chr13:94287787-94288466	NONHSAT034713

Extended variants
information (count: 2023 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2023 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568643269	chr13:94218250-94218251	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534707996	chr13:94218254-94218255	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530233015	chr13:94218261-94218262	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17300444	chr13:94218281-94218282	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540265386	chr13:94218296-94218297	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560452774	chr13:94218298-94218299	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141057814	chr13:94218361-94218362	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187613363	chr13:94218404-94218405	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145111515	chr13:94218412-94218413	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565097312	chr13:94218492-94218493	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs547073220	chr13:94218498-94218499	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530702933	chr13:94218507-94218508	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550927574	chr13:94218526-94218527	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567436037	chr13:94218592-94218593	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34752285	chr13:94218596-94218597	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147579019	chr13:94218617-94218618	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386773451	chr13:94218699-94218700	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs68161618	chr13:94218712-94218713	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78979159	chr13:94218714-94218715	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192629497	chr13:94218737-94218738	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538369813	chr13:94218768-94218769	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs35602582	chr13:94218783-94218784	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558209851	chr13:94218785-94218786	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201264085	chr13:94218795-94218796	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117278013	chr13:94218796-94218797	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200791527	chr13:94218797-94218798	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116993410	chr13:94218799-94218800	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs386380255	chr13:94218800-94218801	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79885532	chr13:94218801-94218802	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569145185	chr13:94218813-94218814	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552875401	chr13:94218814-94218815	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538041767	chr13:94218841-94218842	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568923249	chr13:94218860-94218861	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555291282	chr13:94218878-94218879	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7333389	chr13:94218926-94218927	Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs145718363	chr13:94218962-94218963	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111312145	chr13:94218970-94218971	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553895496	chr13:94218987-94218988	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537526018	chr13:94219018-94219019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7333598	chr13:94219033-94219034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs562955302	chr13:94219049-94219050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530765565	chr13:94219131-94219132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527855224	chr13:94219137-94219138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184846716	chr13:94219148-94219149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9556307	chr13:94219160-94219161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs546836561	chr13:94219188-94219189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143618605	chr13:94219206-94219207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs7334024	chr13:94219230-94219231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140111938	chr13:94219231-94219232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551896454	chr13:94219269-94219270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94217800-94219000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94219000-94227600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:94225800-94226000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:94226600-94226800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr13:94230000-94230200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr13:94230200-94231800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr13:94231800-94233000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr13:94235000-94235200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr13:94235200-94235400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr13:94242000-94242600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr13:94248200-94248800	Enhancers	HepG2	liver
12	chr13:94248400-94248800	Active TSS	Gastric	stomach
13	chr13:94248600-94251600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr13:94248800-94249200	Weak transcription	HepG2	liver
15	chr13:94249200-94249800	Enhancers	HepG2	liver
16	chr13:94251600-94252400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:94251600-94252800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr13:94251800-94252200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr13:94251800-94259600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr13:94252200-94254600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr13:94252400-94252800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:94252400-94267600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:94252800-94254600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:94252800-94255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr13:94254400-94255200	Enhancers	HSMMtube	muscle
26	chr13:94254400-94256000	Enhancers	HSMM	muscle
27	chr13:94254400-94256000	Enhancers	Osteobl	bone
28	chr13:94254600-94254800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr13:94254600-94255400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr13:94254600-94255400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr13:94254600-94255600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr13:94254600-94256000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:94254600-94256000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr13:94254600-94256200	Enhancers	NHEK	skin
35	chr13:94254800-94255800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:94255000-94256000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:94255000-94256000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:94255200-94255400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr13:94255200-94255800	Enhancers	NH-A	brain
40	chr13:94255200-94256000	Enhancers	HMEC	breast
41	chr13:94255400-94267600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr13:94255600-94256000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:94255800-94256600	Enhancers	A549	lung
44	chr13:94256000-94267000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr13:94256000-94276400	Weak transcription	HSMM	muscle
46	chr13:94259600-94259800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr13:94259600-94260000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr13:94259800-94263000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr13:94262000-94262800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr13:94262000-94262800	Enhancers	H9 Cell Line	embryonic stem cell

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