Variant report

Variant	esv3412816
Chromosome Location	chr13:97886873-97887527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:97886043..97888309-chr13:97889917..97892337,2	MCF-7	breast:
2	chr13:97887496..97890340-chr13:97991017..97992548,2	K562	blood:
3	chr13:97885101..97888223-chr13:97890978..97895082,5	K562	blood:
4	chr13:97885894..97888799-chr13:97909158..97911920,2	K562	blood:
5	chr13:97883639..97888223-chr13:97888845..97894728,6	K562	blood:
6	chr13:97884228..97886118-chr13:97886158..97888299,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531343020	chr13:97886898-97886899	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs188828395	chr13:97886963-97886964	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140630538	chr13:97886973-97886974	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs144744836	chr13:97886994-97886995	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs60260809	chr13:97887015-97887016	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs180863383	chr13:97887032-97887033	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs148253163	chr13:97887056-97887057	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs185411109	chr13:97887062-97887063	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575508749	chr13:97887144-97887145	Bivalent Enhancer Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs189394808	chr13:97887235-97887236	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs182261855	chr13:97887240-97887241	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs574764286	chr13:97887243-97887244	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs142683367	chr13:97887245-97887246	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs369074486	chr13:97887247-97887248	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537375831	chr13:97887283-97887284	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs9582120	chr13:97887353-97887354	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs74107589	chr13:97887358-97887359	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs17301327	chr13:97887383-97887384	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562616616	chr13:97887423-97887424	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs146363153	chr13:97887463-97887464	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs187312340	chr13:97887466-97887467	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536505524	chr13:97887468-97887469	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs71117636	chr13:97887477-97887478	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs11617037	chr13:97887486-97887487	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs567751483	chr13:97887489-97887490	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	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
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
Rhabdomyosarcoma	17210683	CNVD
Wilms tumour	21544195	CNVD
Developmental delay	21147756	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
Acute myeloid leukemia	19651601	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
Breast cancer	21785460	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97876600-97893800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:97878200-97896600	Weak transcription	HSMMtube	muscle
3	chr13:97879800-97887800	Enhancers	Right Atrium	heart
4	chr13:97879800-97893200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:97880400-97887200	Weak transcription	Fetal Kidney	kidney
6	chr13:97880400-97888800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr13:97880400-97899400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr13:97880600-97890600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:97880600-97890600	Weak transcription	GM12878-XiMat	blood
10	chr13:97881200-97889800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:97881400-97887000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr13:97881800-97888000	Weak transcription	NHEK	skin
13	chr13:97881800-97890000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr13:97881800-97891400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:97882000-97890200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr13:97882000-97893200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr13:97882200-97891800	Weak transcription	HMEC	breast
18	chr13:97882800-97892000	Strong transcription	Primary B cells from cord blood	blood
19	chr13:97883000-97888200	Strong transcription	Primary B cells from peripheral blood	blood
20	chr13:97883200-97890800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr13:97883400-97888600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr13:97883600-97887800	Strong transcription	Primary T cells from cord blood	blood
23	chr13:97883600-97891800	Genic enhancers	Liver	Liver
24	chr13:97883800-97887800	Enhancers	Brain Substantia Nigra	brain
25	chr13:97884000-97887000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr13:97884000-97888000	Weak transcription	Gastric	stomach
27	chr13:97884000-97888200	Weak transcription	Spleen	Spleen
28	chr13:97884000-97889400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:97884000-97890400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:97884200-97887000	Weak transcription	NHDF-Ad	bronchial
31	chr13:97884200-97888000	Enhancers	Lung	lung
32	chr13:97884200-97891200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr13:97884200-97893800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr13:97884400-97893000	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr13:97884600-97887000	Enhancers	Adipose Nuclei	Adipose
36	chr13:97884600-97888600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr13:97884600-97895600	Weak transcription	HSMM	muscle
38	chr13:97884600-97896000	Enhancers	Psoas Muscle	Psoas
39	chr13:97884800-97887000	Enhancers	Ovary	ovary
40	chr13:97884800-97887000	Weak transcription	A549	lung
41	chr13:97884800-97887600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr13:97884800-97887800	Weak transcription	NHLF	lung
43	chr13:97884800-97889000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr13:97885000-97891400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr13:97885200-97887200	Enhancers	Brain Angular Gyrus	brain
46	chr13:97885200-97887800	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr13:97885200-97890000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr13:97885200-97891200	Weak transcription	NH-A	brain
49	chr13:97885200-97893400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:97885400-97887800	Enhancers	Brain Anterior Caudate	brain

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