Variant report

Variant	nsv562627
Chromosome Location	chr13:87439615-87485906
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	chr13:87465454..87468131-chr13:87475693..87478573,2	MCF-7	breast:
2	chr13:87465454..87468131-chr13:87475693..87478573,2	MCF-7	breast:

Extended variants
information (count: 1123 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1123 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568945951	chr13:87439800-87439801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571405428	chr13:87439804-87439805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538584848	chr13:87439811-87439812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186749572	chr13:87439847-87439848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534635447	chr13:87439864-87439865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201778543	chr13:87439906-87439907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs9523362	chr13:87439915-87439916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs151131786	chr13:87439925-87439926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139042672	chr13:87440027-87440028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572640364	chr13:87440107-87440108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76030697	chr13:87440150-87440151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565363685	chr13:87440151-87440152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577337877	chr13:87440181-87440182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149891269	chr13:87440210-87440211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563134445	chr13:87440268-87440269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs144944044	chr13:87440280-87440281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548648427	chr13:87440311-87440312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560488289	chr13:87440393-87440394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538783325	chr13:87440407-87440408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs192053616	chr13:87440437-87440438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552619698	chr13:87440481-87440482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs571375567	chr13:87440495-87440496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373858858	chr13:87440510-87440511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550473275	chr13:87440515-87440516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181229672	chr13:87440553-87440554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs77114586	chr13:87440576-87440577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34720327	chr13:87440577-87440578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7332982	chr13:87440616-87440617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142102401	chr13:87440638-87440639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542351957	chr13:87440643-87440644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373934712	chr13:87440735-87440736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145922517	chr13:87440747-87440748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577375127	chr13:87440787-87440788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544744426	chr13:87440807-87440808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185592300	chr13:87440813-87440814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575247128	chr13:87440881-87440882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113734728	chr13:87440919-87440920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554081724	chr13:87440929-87440930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141403561	chr13:87440998-87440999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190200624	chr13:87441025-87441026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564566617	chr13:87441032-87441033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs75890653	chr13:87441072-87441073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs7333973	chr13:87441079-87441080	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7334147	chr13:87441135-87441136	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182103168	chr13:87441138-87441139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548049994	chr13:87441153-87441154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566358042	chr13:87441161-87441162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560058829	chr13:87441268-87441269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537099447	chr13:87441305-87441306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35062191	chr13:87441355-87441356	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
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	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
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
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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:87439800-87442600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:87440200-87441200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:87440400-87441200	Enhancers	Brain Angular Gyrus	brain
4	chr13:87440600-87441200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr13:87440800-87441200	Enhancers	Brain Anterior Caudate	brain
6	chr13:87440800-87441200	Enhancers	Brain Substantia Nigra	brain
7	chr13:87441200-87441800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:87441200-87444400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:87441800-87442000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:87443800-87444400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr13:87444000-87444400	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr13:87444400-87444600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:87444400-87444600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr13:87450200-87450600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:87450200-87450600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:87452600-87453200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr13:87455200-87455600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:87456600-87478400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:87462200-87463400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr13:87462200-87463400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr13:87462400-87462800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:87462400-87463200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:87462800-87463000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:87463000-87463200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:87465400-87465800	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr13:87465600-87466000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr13:87465600-87466000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:87474600-87474800	Enhancers	Liver	Liver
29	chr13:87475000-87477200	Weak transcription	Liver	Liver
30	chr13:87477200-87478400	Enhancers	Liver	Liver
31	chr13:87478400-87478600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr13:87478600-87480000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:87479000-87479600	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr13:87479400-87479600	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr13:87479400-87479800	Enhancers	Brain Cingulate Gyrus	brain
36	chr13:87482000-87482800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr13:87482200-87482400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr13:87482200-87482600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr13:87482200-87482800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr13:87482400-87482600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr13:87482400-87483800	Enhancers	iPS-18 Cell Line	embryonic stem cell

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