Variant report

Variant	esv2754893
Chromosome Location	chr13:84931199-85055599
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	chr13:84940801..84943789-chr13:84949467..84951854,2	MCF-7	breast:
2	chr13:84940801..84943789-chr13:84949467..84951854,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLITRK5-33	chr13:85005210-85005339	NONHSAT034550
2	lnc-SLITRK5-33	chr13:85014374-85014466	NONHSAT034550
3	lnc-SLITRK5-33	chr13:85016512-85016706	NONHSAT034550

Extended variants
information (count: 3179 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:3179 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577640462	chr13:84936805-84936806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs77840551	chr13:84936838-84936839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553342084	chr13:84936886-84936887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192211213	chr13:84936897-84936898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183755831	chr13:84936908-84936909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562165133	chr13:84936909-84936910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs575830940	chr13:84936963-84936964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186672862	chr13:84936977-84936978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563406359	chr13:84937024-84937025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564649548	chr13:84937065-84937066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115145511	chr13:84937071-84937072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189563593	chr13:84937075-84937076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112882468	chr13:84937092-84937093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560479373	chr13:84937096-84937097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140013731	chr13:84937241-84937242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35562519	chr13:84937246-84937247	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569040135	chr13:84937278-84937279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187012175	chr13:84937294-84937295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538069390	chr13:84937297-84937298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551280253	chr13:84937314-84937315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192960473	chr13:84937366-84937367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533602351	chr13:84937404-84937405	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550371835	chr13:84937417-84937418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185223482	chr13:84937460-84937461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576854034	chr13:84937498-84937499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535830918	chr13:84937504-84937505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556054850	chr13:84937505-84937506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575845042	chr13:84937507-84937508	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542073790	chr13:84937509-84937510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144910503	chr13:84937521-84937522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188237879	chr13:84937606-84937607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7326128	chr13:84937614-84937615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs1411535	chr13:84937633-84937634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs560494780	chr13:84937662-84937663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570984936	chr13:84937679-84937680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs73538500	chr13:84937683-84937684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs193274881	chr13:84937685-84937686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562846288	chr13:84937687-84937688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531494982	chr13:84937710-84937711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551562103	chr13:84937714-84937715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184733173	chr13:84937738-84937739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533662668	chr13:84937749-84937750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547054382	chr13:84937783-84937784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567001913	chr13:84937790-84937791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536292147	chr13:84937791-84937792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555877851	chr13:84937830-84937831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575903994	chr13:84937865-84937866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547722133	chr13:84937874-84937875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9593913	chr13:84937885-84937886	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs558354496	chr13:84937900-84937901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Developmental delay	21147756	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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21858162	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
abnormal development	18461090	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Epilepsy	20502679	CNVD
Non-small cell lung cancer	16651412	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:211 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84936800-84937400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr13:84936800-84937600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr13:84937400-84938400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr13:84938400-84938600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:84951200-84951600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr13:84951200-84951600	Enhancers	Fetal Brain Female	brain
7	chr13:84952400-84952600	ZNF genes & repeats	Aorta	Aorta
8	chr13:84952600-84952800	Weak transcription	Aorta	Aorta
9	chr13:84955000-84955400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr13:84957400-84958200	Weak transcription	Esophagus	oesophagus
11	chr13:84958600-84959000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:84964600-84967800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:84965400-84972600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr13:84966200-84966800	Weak transcription	HMEC	breast
15	chr13:84966800-84969000	Enhancers	HMEC	breast
16	chr13:84967400-84968600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:84967600-84967800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:84967600-84968600	ZNF genes & repeats	Aorta	Aorta
19	chr13:84967600-84968800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:84967600-84969000	Enhancers	NHEK	skin
21	chr13:84967800-84969000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:84967800-84969200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr13:84968600-84972200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:84969000-84972000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr13:84969000-84972400	Weak transcription	NHEK	skin
26	chr13:84972000-84972400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr13:84972200-84973600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr13:84972400-84973200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr13:84972400-84974200	ZNF genes & repeats	NHEK	skin
30	chr13:84972600-84973800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr13:84972600-84974200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:84972800-84973000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr13:84972800-84973600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr13:84973000-84974000	ZNF genes & repeats	Dnd41	blood
35	chr13:84973200-84973400	Enhancers	HepG2	liver
36	chr13:84973200-84973600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr13:84973200-84973600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:84973200-84974000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:84973200-84974200	Enhancers	Esophagus	oesophagus
40	chr13:84973400-84973600	Flanking Active TSS	HepG2	liver
41	chr13:84973400-84974000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr13:84973400-84974400	Enhancers	NH-A	brain
43	chr13:84973400-84975600	Enhancers	Osteobl	bone
44	chr13:84973400-84975800	Enhancers	HMEC	breast
45	chr13:84973600-84973800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr13:84973600-84974200	Enhancers	HepG2	liver
47	chr13:84973600-84974400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:84973600-84974400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr13:84973600-84975400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:84973600-84975800	Enhancers	Muscle Satellite Cultured Cells	--

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