Variant report

Variant	esv3433367
Chromosome Location	chr13:90162000-90184090
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	chr13:90172699..90174465-chr13:90182640..90184619,2	MCF-7	breast:
2	chr13:90172699..90174465-chr13:90182640..90184619,2	MCF-7	breast:

Extended variants
information (count: 509 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201789256	chr13:90162613-90162614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575068525	chr13:90162624-90162625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111652933	chr13:90162642-90162643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150825258	chr13:90162647-90162648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527342048	chr13:90162699-90162700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551891119	chr13:90162735-90162736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs511463	chr13:90162744-90162745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531526326	chr13:90162836-90162837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549648996	chr13:90162839-90162840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567941944	chr13:90162879-90162880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573880194	chr13:90162880-90162881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139277627	chr13:90162895-90162896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548317746	chr13:90162896-90162897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149399917	chr13:90162974-90162975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566859456	chr13:90162977-90162978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534251000	chr13:90162987-90162988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34537582	chr13:90163039-90163040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182943411	chr13:90163065-90163066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186640709	chr13:90163071-90163072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371293846	chr13:90163073-90163074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538569662	chr13:90163083-90163084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs556871446	chr13:90163093-90163094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs575131392	chr13:90163097-90163098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542431852	chr13:90163101-90163102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368586282	chr13:90163109-90163110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79102823	chr13:90163124-90163125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572070990	chr13:90163145-90163146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545851380	chr13:90163148-90163149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563962720	chr13:90163155-90163156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149980529	chr13:90163157-90163158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543360426	chr13:90163178-90163179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115313159	chr13:90163190-90163191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529114200	chr13:90163215-90163216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542800565	chr13:90163239-90163240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547191878	chr13:90163240-90163241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565839311	chr13:90163311-90163312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374813293	chr13:90163314-90163315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs527798108	chr13:90163350-90163351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552621968	chr13:90163377-90163378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570782431	chr13:90163410-90163411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191454818	chr13:90163415-90163416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182947597	chr13:90163457-90163458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368076940	chr13:90163519-90163520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146587163	chr13:90163563-90163564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114331828	chr13:90163567-90163568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554089652	chr13:90163575-90163576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533263380	chr13:90163613-90163614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs9515581	chr13:90163616-90163617	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs545608544	chr13:90163668-90163669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557831652	chr13:90163688-90163689	Weak transcription	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
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
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
abnormal development	18461090	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
Prostate cancer	21965145	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	21220470	CNVD
Cancer	21183584	CNVD
Omodysplasia	19481194	CNVD
Breast cancer	22032731	CNVD
Mantle cell lymphoma	19690137	CNVD
Rhabdomyosarcoma	17210683	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
coloboma	21285886	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	19651601	CNVD
Effusion lymphoma	18079361	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:90162600-90164800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:90163400-90165600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr13:90163600-90165600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:90164000-90164200	ZNF genes & repeats	Fetal Lung	lung
5	chr13:90164200-90167000	Weak transcription	Fetal Lung	lung
6	chr13:90165200-90165400	Enhancers	A549	lung
7	chr13:90165200-90166000	Enhancers	HUVEC	blood vessel
8	chr13:90165200-90168000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr13:90165200-90168000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr13:90165400-90165800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr13:90165400-90166600	Flanking Active TSS	A549	lung
12	chr13:90165400-90166800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr13:90165400-90167800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:90165400-90167800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:90165600-90165800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:90165600-90166000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr13:90165600-90167600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr13:90165600-90167600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:90165600-90167800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:90165800-90166200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:90165800-90166800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr13:90165800-90167000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr13:90165800-90167800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr13:90165800-90168000	Enhancers	NHEK	skin
25	chr13:90166000-90166200	Flanking Active TSS	HUVEC	blood vessel
26	chr13:90166000-90167800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:90166000-90167800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr13:90166000-90168000	Enhancers	Hela-S3	cervix
29	chr13:90166000-90170400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr13:90166200-90166400	Enhancers	HUVEC	blood vessel
31	chr13:90166200-90167800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr13:90166200-90168000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:90166400-90166600	Flanking Active TSS	HUVEC	blood vessel
34	chr13:90166400-90167600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr13:90166400-90167600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr13:90166400-90167800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:90166400-90167800	Enhancers	Fetal Heart	heart
38	chr13:90166400-90167800	Enhancers	HMEC	breast
39	chr13:90166600-90167200	Active TSS	A549	lung
40	chr13:90166600-90167400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:90166600-90167600	Enhancers	NH-A	brain
42	chr13:90166600-90168400	Enhancers	HUVEC	blood vessel
43	chr13:90166800-90167400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr13:90166800-90167600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr13:90166800-90167600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr13:90166800-90167600	Enhancers	Liver	Liver
47	chr13:90166800-90167600	Enhancers	Brain Substantia Nigra	brain
48	chr13:90166800-90167800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr13:90166800-90167800	Enhancers	Adipose Nuclei	Adipose
50	chr13:90167000-90167600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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