Variant report

Variant	nsv1027000
Chromosome Location	chr7:53290796-53321683
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 824 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:824 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11982085	chr7:53290796-53290797	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559905410	chr7:53290809-53290810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528850537	chr7:53290814-53290815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548474164	chr7:53290819-53290820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149649496	chr7:53290860-53290861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6651135	chr7:53290870-53290871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs6651136	chr7:53290896-53290897	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs546658034	chr7:53290908-53290909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77391469	chr7:53290928-53290929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570962515	chr7:53290930-53290931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539568793	chr7:53290940-53290941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553404605	chr7:53290965-53290966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192490676	chr7:53290969-53290970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73122666	chr7:53290970-53290971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs535809052	chr7:53290981-53290982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555740672	chr7:53290991-53290992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575606133	chr7:53291000-53291001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571432706	chr7:53291013-53291014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185672150	chr7:53291068-53291069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374196359	chr7:53291084-53291085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73354238	chr7:53291106-53291107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs151295904	chr7:53291111-53291112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569745719	chr7:53291131-53291132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536850472	chr7:53291248-53291249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577323772	chr7:53291252-53291253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140680306	chr7:53291271-53291272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189406887	chr7:53291283-53291284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538627470	chr7:53291291-53291292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560894198	chr7:53291303-53291304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528889039	chr7:53291309-53291310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558189263	chr7:53291389-53291390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs576545101	chr7:53291422-53291423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548558490	chr7:53291428-53291429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562073927	chr7:53291447-53291448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531096468	chr7:53291448-53291449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550830803	chr7:53291455-53291456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180940924	chr7:53291459-53291460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533521873	chr7:53291464-53291465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34067127	chr7:53291489-53291490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546788033	chr7:53291494-53291495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186390358	chr7:53291495-53291496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188678780	chr7:53291499-53291500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145895584	chr7:53291615-53291616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78070891	chr7:53291635-53291636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11983785	chr7:53291723-53291724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138499742	chr7:53291738-53291739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558001549	chr7:53291740-53291741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73354241	chr7:53291780-53291781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs540381185	chr7:53291802-53291803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553625856	chr7:53291804-53291805	Weak transcription	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
Williams Syndrome	20824207	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53287400-53292800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:53287400-53297000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:53291200-53291400	Enhancers	Ovary	ovary
4	chr7:53292800-53293000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:53297000-53297200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:53305000-53305200	Enhancers	Colon Smooth Muscle	Colon
7	chr7:53305000-53305200	Active TSS	Fetal Heart	heart
8	chr7:53305000-53305400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:53305000-53305400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:53305000-53305600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:53305200-53305400	Flanking Active TSS	Fetal Heart	heart
12	chr7:53305200-53305800	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:53305200-53306000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:53305200-53306200	Enhancers	Aorta	Aorta
15	chr7:53305200-53306600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:53305200-53307000	Active TSS	Right Atrium	heart
17	chr7:53305400-53305800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:53305400-53306600	Enhancers	Fetal Heart	heart
19	chr7:53305400-53307000	Active TSS	Right Ventricle	heart
20	chr7:53305600-53306200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr7:53305800-53306200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:53305800-53306200	Active TSS	Left Ventricle	heart
23	chr7:53305800-53306400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:53305800-53306600	Enhancers	Colon Smooth Muscle	Colon
25	chr7:53306000-53306400	Enhancers	H9 Cell Line	embryonic stem cell
26	chr7:53306000-53306400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr7:53306000-53307000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:53306200-53306400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:53306600-53307000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:53306600-53309400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:53307400-53307600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:53309400-53309600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:53309600-53311400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:53313800-53314400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:53314200-53315400	Enhancers	HUVEC	blood vessel
36	chr7:53314400-53318600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:53318400-53319200	Enhancers	Fetal Heart	heart
38	chr7:53318400-53319600	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr7:53318400-53319800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr7:53318600-53319200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr7:53318600-53319400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr7:53318800-53319400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:53319000-53319400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:53319000-53319400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:53319000-53319600	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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