Variant report

Variant	nsv826732
Chromosome Location	chr13:84656285-84665033
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	chr13:84651467..84654001-chr13:84656422..84658484,2	MCF-7	breast:

Extended variants
information (count: 162 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:162 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182504718	chr13:84659625-84659626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529135023	chr13:84659634-84659635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186011779	chr13:84659686-84659687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568956343	chr13:84659703-84659704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538071285	chr13:84659720-84659721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191757840	chr13:84659729-84659730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557869466	chr13:84659738-84659739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571331428	chr13:84659760-84659761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541575105	chr13:84659766-84659767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183325089	chr13:84659778-84659779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540327007	chr13:84660217-84660218	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs7338994	chr13:84660222-84660223	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs7337902	chr13:84660223-84660224	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs542971412	chr13:84660228-84660229	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs11840488	chr13:84660231-84660232	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs531586631	chr13:84660232-84660233	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551707396	chr13:84660266-84660267	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs565061993	chr13:84660302-84660303	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs527528655	chr13:84660329-84660330	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs569139090	chr13:84660355-84660356	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs7337809	chr13:84660370-84660371	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs185029485	chr13:84660377-84660378	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs11840522	chr13:84660392-84660393	Active TSS Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs549705887	chr13:84660401-84660402	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs569562545	chr13:84660411-84660412	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs548513954	chr13:84660452-84660453	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs12430930	chr13:84660464-84660465	Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs77845689	chr13:84660504-84660505	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs577794961	chr13:84660507-84660508	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs534158822	chr13:84660544-84660545	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542398466	chr13:84660590-84660591	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs554087301	chr13:84660627-84660628	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs574050165	chr13:84660646-84660647	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs542757313	chr13:84660654-84660655	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs562860682	chr13:84660667-84660668	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576544029	chr13:84660676-84660677	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545315383	chr13:84660678-84660679	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs565203903	chr13:84660714-84660715	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs190661057	chr13:84660742-84660743	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527601813	chr13:84660747-84660748	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs547542234	chr13:84660795-84660796	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs560931790	chr13:84660802-84660803	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529757705	chr13:84660810-84660811	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370607995	chr13:84660835-84660836	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs569630926	chr13:84660852-84660853	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs538275821	chr13:84660865-84660866	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs541861625	chr13:84660879-84660880	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs373139182	chr13:84660896-84660897	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs551643407	chr13:84660897-84660898	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs571572575	chr13:84660908-84660909	Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	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
Breast cancer	21858162	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	19490664	CNVD
Neurodevelopmental disorder	22521361	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84659600-84659800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:84660200-84660400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:84660200-84661000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr13:84660200-84661800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr13:84660200-84661800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr13:84660400-84660600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:84660400-84661000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:84660400-84661000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:84660400-84661000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr13:84660400-84661000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:84660400-84661000	Active TSS	Ovary	ovary
12	chr13:84660400-84661200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:84660400-84661200	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr13:84660400-84661200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:84660400-84661200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
16	chr13:84660400-84661200	Active TSS	Pancreas	Pancrea
17	chr13:84660400-84661200	Active TSS	Right Ventricle	heart
18	chr13:84660400-84661200	Active TSS	Stomach Smooth Muscle	stomach
19	chr13:84660400-84661200	Active TSS	Thymus	Thymus
20	chr13:84660400-84661400	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr13:84660400-84661800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:84660600-84661000	Active TSS	Left Ventricle	heart
23	chr13:84660600-84661200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr13:84660600-84661800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr13:84660600-84662000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr13:84660800-84661200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:84661000-84661400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr13:84661000-84661400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:84661000-84661400	Active TSS	Osteobl	bone
30	chr13:84662200-84664000	Enhancers	Dnd41	blood

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