Variant report

Variant	nsv1008
Chromosome Location	chr13:39458830-39468613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:39460498..39462808-chr13:39464798..39467531,2	K562	blood:
2	chr13:39460498..39462808-chr13:39464798..39467531,2	K562	blood:
3	chr13:39457286..39459504-chr13:39463520..39465415,2	K562	blood:
4	chr13:39464981..39465764-chr21:38887814..38888433,2	MCF-7	breast:
5	chr13:39463216..39465859-chr13:39480202..39481912,2	MCF-7	breast:
6	chr13:39457286..39459504-chr13:39463520..39465415,2	K562	blood:
7	chr13:39258901..39259409-chr13:39464106..39464772,2	MCF-7	breast:

Extended variants
information (count: 364 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:364 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79571295	chr13:39458853-39458854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375506292	chr13:39458864-39458865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367654076	chr13:39458913-39458914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537708367	chr13:39458998-39458999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs560172905	chr13:39459056-39459057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190214300	chr13:39459065-39459066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369791712	chr13:39459091-39459092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569012139	chr13:39459116-39459117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571781749	chr13:39459149-39459150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs373131779	chr13:39459155-39459156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548787549	chr13:39459159-39459160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116463058	chr13:39459173-39459174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367749333	chr13:39459189-39459190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73466068	chr13:39459361-39459362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs2027770	chr13:39459389-39459390	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs151152504	chr13:39459428-39459429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2225623	chr13:39459484-39459485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs535067687	chr13:39459494-39459495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576483210	chr13:39459536-39459537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544047008	chr13:39459541-39459542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368625132	chr13:39459563-39459564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554972713	chr13:39459587-39459588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536582031	chr13:39459590-39459591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373947934	chr13:39459592-39459593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554764998	chr13:39459655-39459656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149261877	chr13:39459666-39459667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556198899	chr13:39459684-39459685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6563648	chr13:39459694-39459695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs9576633	chr13:39459704-39459705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540509203	chr13:39459742-39459743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140082262	chr13:39459744-39459745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185608262	chr13:39459831-39459832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190527358	chr13:39459872-39459873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145394806	chr13:39459873-39459874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557620860	chr13:39459900-39459901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531453432	chr13:39459928-39459929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs76274648	chr13:39459943-39459944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568618549	chr13:39459948-39459949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371058481	chr13:39460025-39460026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547676809	chr13:39460037-39460038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570819802	chr13:39460052-39460053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539400039	chr13:39460074-39460075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556158747	chr13:39460111-39460112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180738410	chr13:39460119-39460120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535927607	chr13:39460142-39460143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs34546973	chr13:39460197-39460198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555605315	chr13:39460204-39460205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574569349	chr13:39460242-39460243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs9548524	chr13:39460259-39460260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7327183	chr13:39460268-39460269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	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
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39430600-39462400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr13:39432600-39468600	Weak transcription	Psoas Muscle	Psoas
3	chr13:39447000-39462400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr13:39447000-39462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:39451400-39468200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:39455000-39462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:39456400-39465600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr13:39457800-39459000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:39458200-39459000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr13:39458200-39459000	Enhancers	Fetal Intestine Large	intestine
11	chr13:39458400-39461800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr13:39458400-39462200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:39458400-39462200	Weak transcription	Gastric	stomach
14	chr13:39458400-39462400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr13:39458400-39462400	Weak transcription	NH-A	brain
16	chr13:39458400-39466200	Weak transcription	Fetal Kidney	kidney
17	chr13:39458400-39469200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr13:39459000-39459200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:39461400-39463000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr13:39461800-39463400	Enhancers	Muscle Satellite Cultured Cells	--
21	chr13:39462000-39463200	Enhancers	HMEC	breast
22	chr13:39462200-39462400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr13:39462400-39462600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr13:39462400-39462600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:39462400-39462600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr13:39462400-39462800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:39462400-39462800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr13:39462400-39462800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr13:39462400-39462800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:39462400-39462800	Enhancers	NHDF-Ad	bronchial
31	chr13:39462400-39463000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr13:39462400-39463000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:39462400-39463000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:39462400-39463000	Enhancers	NHEK	skin
35	chr13:39462400-39463200	Enhancers	NH-A	brain
36	chr13:39462600-39462800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr13:39462600-39462800	Enhancers	Gastric	stomach
38	chr13:39462800-39471800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:39463000-39463200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr13:39463000-39466000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr13:39463000-39476200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:39463200-39464000	Weak transcription	HMEC	breast
43	chr13:39464000-39464200	Enhancers	HMEC	breast
44	chr13:39464200-39466200	Weak transcription	HMEC	breast
45	chr13:39464800-39467400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr13:39465800-39466400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:39466200-39466400	ZNF genes & repeats	Fetal Kidney	kidney
48	chr13:39466200-39466400	Enhancers	HMEC	breast
49	chr13:39466400-39470000	Weak transcription	Fetal Kidney	kidney
50	chr13:39468200-39470200	Enhancers	Skeletal Muscle Female	skeletal muscle

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