Variant report

Variant	esv1842896
Chromosome Location	chr13:94095160-94153194
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:94130713..94132921-chr13:94134439..94135999,2	K562	blood:
2	chr13:94130713..94132921-chr13:94134439..94135999,2	K562	blood:
3	chr13:94115203..94116046-chr5:54736109..54737038,2	MCF-7	breast:
4	chr13:94151315..94153018-chr13:94160965..94162525,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCT-15	chr13:94150943-94150992	NONHSAT034712
2	lnc-DCT-15	chr13:94149949-94150144	NONHSAT034712
3	lnc-DCT-15	chr13:94151520-94153117	NONHSAT034712

No data

Extended variants
information (count: 1782 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1782 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1373834	chr13:94095160-94095161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs149201912	chr13:94095161-94095162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187711399	chr13:94095162-94095163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377323195	chr13:94095224-94095225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370908343	chr13:94095230-94095231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561828417	chr13:94095271-94095272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571999441	chr13:94095273-94095274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541656423	chr13:94095313-94095314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191504015	chr13:94095333-94095334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533700872	chr13:94095402-94095403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550476023	chr13:94095474-94095475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74549714	chr13:94095528-94095529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79022385	chr13:94095529-94095530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573890056	chr13:94095538-94095539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs75686836	chr13:94095553-94095554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76981723	chr13:94095634-94095635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559358534	chr13:94095635-94095636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534807478	chr13:94095646-94095647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146952751	chr13:94095648-94095649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570299017	chr13:94095651-94095652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539217638	chr13:94095690-94095691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556052333	chr13:94095702-94095703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575889328	chr13:94095709-94095710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574289780	chr13:94095739-94095740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535432441	chr13:94095747-94095748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138039363	chr13:94095814-94095815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183652869	chr13:94095857-94095858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs34899470	chr13:94095884-94095885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540753702	chr13:94095891-94095892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs28633340	chr13:94095896-94095897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558411067	chr13:94095899-94095900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs578230542	chr13:94095930-94095931	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186727671	chr13:94095945-94095946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs563980585	chr13:94095967-94095968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192964311	chr13:94095987-94095988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs117264532	chr13:94096015-94096016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559480596	chr13:94096053-94096054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184745985	chr13:94096056-94096057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143545909	chr13:94096058-94096059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147130941	chr13:94096091-94096092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544766599	chr13:94096119-94096120	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200026173	chr13:94096127-94096128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35760866	chr13:94096129-94096130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs57137598	chr13:94096130-94096131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73554705	chr13:94096172-94096173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs549515880	chr13:94096192-94096193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12876057	chr13:94096223-94096224	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs75480524	chr13:94096224-94096225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372044196	chr13:94096266-94096267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112730346	chr13:94096278-94096279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94092800-94104800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94095800-94098200	Enhancers	Fetal Heart	heart
3	chr13:94097000-94099000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr13:94098000-94098200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr13:94098000-94099000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:94098200-94098600	Weak transcription	Fetal Heart	heart
7	chr13:94098200-94099000	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr13:94098600-94098800	Enhancers	Fetal Heart	heart
9	chr13:94098600-94099000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr13:94098600-94099000	Enhancers	Fetal Kidney	kidney
11	chr13:94098800-94099000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr13:94098800-94099800	Weak transcription	Fetal Heart	heart
13	chr13:94099000-94102600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr13:94099800-94100400	Enhancers	Fetal Heart	heart
15	chr13:94101800-94103000	Enhancers	Ovary	ovary
16	chr13:94102200-94102400	Enhancers	Esophagus	oesophagus
17	chr13:94102200-94102800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr13:94102200-94103000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr13:94102200-94103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:94102200-94103000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:94102200-94103000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:94102200-94103000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:94102200-94103200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr13:94102200-94103400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr13:94102600-94102800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr13:94102600-94103000	Enhancers	HSMM	muscle
27	chr13:94102600-94103000	Enhancers	Osteobl	bone
28	chr13:94102600-94103200	Enhancers	HMEC	breast
29	chr13:94102600-94103600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:94102800-94103400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:94103000-94105200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:94104800-94105800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:94105400-94107600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr13:94105800-94107800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:94106800-94109000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:94107000-94107600	Active TSS	Monocytes-CD14+_RO01746	blood
37	chr13:94107200-94107800	Active TSS	Fetal Stomach	stomach
38	chr13:94107600-94107800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
39	chr13:94107600-94109000	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr13:94107800-94108200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:94108000-94108600	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr13:94108200-94120400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr13:94109000-94109400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr13:94112000-94112400	Enhancers	Fetal Heart	heart
45	chr13:94112200-94112600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr13:94112400-94114000	Weak transcription	Fetal Heart	heart
47	chr13:94113800-94114200	Enhancers	Fetal Brain Male	brain
48	chr13:94114000-94114400	Enhancers	Fetal Heart	heart
49	chr13:94117800-94118000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:94117800-94119200	Enhancers	Fetal Lung	lung

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