Variant report

Variant	nsv1023585
Chromosome Location	chr7:53285534-53322233
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1025 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1025 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539687339	chr7:53285802-53285803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546875741	chr7:53285843-53285844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191715427	chr7:53285854-53285855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145444230	chr7:53285889-53285890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371182357	chr7:53285898-53285899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6965095	chr7:53285915-53285916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543065959	chr7:53285924-53285925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562814972	chr7:53285949-53285950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs147703988	chr7:53285953-53285954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558090806	chr7:53285979-53285980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367989306	chr7:53285985-53285986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113219249	chr7:53286031-53286032	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533426543	chr7:53286035-53286036	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540465160	chr7:53286112-53286113	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375190926	chr7:53286117-53286118	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187945412	chr7:53286132-53286133	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6966674	chr7:53286223-53286224	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs4624978	chr7:53286227-53286228	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531217812	chr7:53286230-53286231	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs150245277	chr7:53286253-53286254	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs527925855	chr7:53286255-53286256	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs533424620	chr7:53286285-53286286	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs115705654	chr7:53286286-53286287	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566967518	chr7:53286288-53286289	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35409921	chr7:53286289-53286290	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs549210745	chr7:53286291-53286292	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs569331721	chr7:53286366-53286367	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs567660776	chr7:53286372-53286373	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566362579	chr7:53286386-53286387	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs191304324	chr7:53286429-53286430	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs558178566	chr7:53286504-53286505	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs578018059	chr7:53286512-53286513	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs138928555	chr7:53286527-53286528	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs149010658	chr7:53286559-53286560	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs556303108	chr7:53286641-53286642	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115808365	chr7:53286648-53286649	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542768807	chr7:53286743-53286744	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112895802	chr7:53286762-53286763	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs6970183	chr7:53286763-53286764	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs145914821	chr7:53286773-53286774	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544632975	chr7:53286775-53286776	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564524438	chr7:53286819-53286820	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs4947794	chr7:53286848-53286849	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs540591905	chr7:53286952-53286953	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs78652256	chr7:53286961-53286962	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs74545371	chr7:53286976-53286977	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs549543938	chr7:53286998-53286999	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs183779974	chr7:53287002-53287003	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs369247031	chr7:53287004-53287005	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs2068595	chr7:53287021-53287022	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53285800-53286200	Enhancers	HUVEC	blood vessel
2	chr7:53286000-53286400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
3	chr7:53286000-53286400	Enhancers	Brain Germinal Matrix	brain
4	chr7:53286000-53286400	Enhancers	Brain Hippocampus Middle	brain
5	chr7:53286200-53286400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr7:53286200-53286400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr7:53286200-53286400	Flanking Active TSS	HUVEC	blood vessel
8	chr7:53286200-53286800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr7:53286400-53286600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr7:53286400-53286600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
11	chr7:53286400-53286600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:53286400-53286600	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr7:53286400-53286600	Active TSS	Brain Hippocampus Middle	brain
14	chr7:53286400-53286600	Active TSS	Fetal Brain Female	brain
15	chr7:53286400-53286600	Active TSS	Fetal Muscle Leg	muscle
16	chr7:53286400-53286800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr7:53286400-53286800	Active TSS	Fetal Muscle Trunk	muscle
18	chr7:53286400-53286800	Active TSS	Fetal Stomach	stomach
19	chr7:53286400-53286800	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr7:53286400-53287200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:53286400-53287200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:53286400-53287200	Active TSS	Brain Anterior Caudate	brain
23	chr7:53286400-53287200	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr7:53286400-53287200	Active TSS	Brain Substantia Nigra	brain
25	chr7:53286400-53287200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
26	chr7:53286400-53287200	Active TSS	NH-A	brain
27	chr7:53286400-53287400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr7:53286400-53287400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr7:53286400-53287400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
30	chr7:53286400-53287400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
31	chr7:53286400-53287400	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr7:53286400-53287400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:53286400-53287400	Active TSS	Aorta	Aorta
34	chr7:53286400-53287400	Active TSS	Brain Cingulate Gyrus	brain
35	chr7:53286400-53287400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:53286400-53287400	Active TSS	Colon Smooth Muscle	Colon
37	chr7:53286400-53287400	Active TSS	Fetal Kidney	kidney
38	chr7:53286400-53287400	Active TSS	Ovary	ovary
39	chr7:53286400-53287400	Active TSS	Rectal Smooth Muscle	rectum
40	chr7:53286400-53287400	Active TSS	Right Atrium	heart
41	chr7:53286400-53287400	Active TSS	Right Ventricle	heart
42	chr7:53286400-53287600	Active TSS	HUVEC	blood vessel
43	chr7:53286600-53286800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:53286600-53286800	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr7:53286600-53286800	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr7:53286600-53286800	Enhancers	Pancreas	Pancrea
47	chr7:53286600-53286800	Enhancers	Spleen	Spleen
48	chr7:53286600-53287000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr7:53286600-53287000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:53286600-53287000	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast

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