Variant report

Variant	nsv888036
Chromosome Location	chr7:53168912-53209324
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	chr17:25277426..25278160-chr7:53200570..53201453,2	MCF-7	breast:
2	chr7:53154314..53155979-chr7:53166345..53169184,2	MCF-7	breast:

Extended variants
information (count: 683 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:683 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528546039	chr7:53178026-53178027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556596682	chr7:53178063-53178064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576709426	chr7:53178094-53178095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs78949822	chr7:53178122-53178123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535921056	chr7:53178144-53178145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568353924	chr7:53178146-53178147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572669257	chr7:53178188-53178189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138310197	chr7:53178189-53178190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369952592	chr7:53178223-53178224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561405843	chr7:53178239-53178240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187383055	chr7:53178263-53178264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs369069320	chr7:53178277-53178278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543832601	chr7:53178278-53178279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191014404	chr7:53178289-53178290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372491076	chr7:53178381-53178382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142878936	chr7:53178422-53178423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182676107	chr7:53178468-53178469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370376234	chr7:53178488-53178489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145099665	chr7:53178511-53178512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528223030	chr7:53178518-53178519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575838319	chr7:53178522-53178523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369770174	chr7:53178596-53178597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138970730	chr7:53178607-53178608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568116904	chr7:53178614-53178615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532417723	chr7:53178643-53178644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs151123790	chr7:53178691-53178692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141560303	chr7:53178698-53178699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373858333	chr7:53178712-53178713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570351455	chr7:53178734-53178735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10271150	chr7:53178762-53178763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371186605	chr7:53178857-53178858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376774556	chr7:53178887-53178888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559253871	chr7:53178971-53178972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572680920	chr7:53179001-53179002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541604022	chr7:53179018-53179019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554849208	chr7:53179044-53179045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540157486	chr7:53179045-53179046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs66539413	chr7:53179046-53179047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58101303	chr7:53179057-53179058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574903509	chr7:53179095-53179096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543547760	chr7:53179097-53179098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563740695	chr7:53179104-53179105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532330270	chr7:53179112-53179113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186439930	chr7:53179140-53179141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559191361	chr7:53179158-53179159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569573883	chr7:53179186-53179187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528289411	chr7:53179187-53179188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561891198	chr7:53179216-53179217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150905251	chr7:53179228-53179229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561713494	chr7:53179240-53179241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21990379	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53178000-53179200	Enhancers	Fetal Muscle Leg	muscle
2	chr7:53178000-53180000	Enhancers	Fetal Heart	heart
3	chr7:53178200-53178400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:53178200-53179000	Enhancers	NH-A	brain
5	chr7:53178400-53185800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:53178600-53179000	Enhancers	Fetal Stomach	stomach
7	chr7:53178600-53179200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:53178600-53179400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:53178600-53179600	Enhancers	Aorta	Aorta
10	chr7:53178800-53179600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:53179000-53179600	Enhancers	Ovary	ovary
12	chr7:53179200-53182400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:53179400-53181800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:53179800-53180000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:53180000-53180400	Weak transcription	Fetal Heart	heart
16	chr7:53180200-53181600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:53180400-53182400	Enhancers	Fetal Heart	heart
18	chr7:53180400-53182600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:53181600-53182800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:53181800-53182600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:53181800-53183800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr7:53182000-53183200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:53182000-53183400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:53182200-53182600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:53182200-53182600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:53182400-53182600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr7:53182400-53182800	Enhancers	H9 Cell Line	embryonic stem cell
28	chr7:53182400-53183000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:53182400-53185000	Weak transcription	Fetal Heart	heart
30	chr7:53182600-53183000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr7:53182600-53183400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:53183000-53183400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr7:53185000-53185600	Enhancers	Fetal Heart	heart
34	chr7:53185600-53189200	Weak transcription	Fetal Heart	heart
35	chr7:53185600-53189400	Enhancers	HUVEC	blood vessel
36	chr7:53185800-53188400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:53186600-53188200	Enhancers	NH-A	brain
38	chr7:53187000-53187200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr7:53187200-53187800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:53187200-53187800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:53187400-53187800	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr7:53187400-53187800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:53187400-53187800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr7:53187400-53187800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:53187400-53187800	Enhancers	Aorta	Aorta
46	chr7:53187400-53187800	Enhancers	Brain Germinal Matrix	brain
47	chr7:53187400-53187800	Enhancers	Ovary	ovary
48	chr7:53187400-53187800	Enhancers	Spleen	Spleen
49	chr7:53187800-53188000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:53188400-53188800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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