Variant report

Variant	nsv1032785
Chromosome Location	chr7:53660651-53758673
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:53720640..53722704-chr7:53723589..53725736,2	MCF-7	breast:
2	chr10:111828622..111831143-chr7:53725835..53727590,2	MCF-7	breast:
3	chr7:53720640..53722704-chr7:53723589..53725736,2	MCF-7	breast:

Extended variants
information (count: 1749 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:1749 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543185204	chr7:53660674-53660675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527591335	chr7:53660704-53660705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552277716	chr7:53660710-53660711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17152943	chr7:53660735-53660736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs146813490	chr7:53660757-53660758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10280610	chr7:53660786-53660787	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs62446143	chr7:53660793-53660794	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565717840	chr7:53660836-53660837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs151036524	chr7:53660862-53660863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186202638	chr7:53660865-53660866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191440680	chr7:53660881-53660882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139651857	chr7:53660885-53660886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540174974	chr7:53660892-53660893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10237005	chr7:53660921-53660922	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs576462954	chr7:53660954-53660955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144355517	chr7:53660962-53660963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529605684	chr7:53660968-53660969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547896292	chr7:53660980-53660981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12718806	chr7:53661050-53661051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs374247120	chr7:53661060-53661061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10240484	chr7:53661137-53661138	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537666197	chr7:53661145-53661146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114665839	chr7:53661167-53661168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560334967	chr7:53661176-53661177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76388244	chr7:53661216-53661217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372530898	chr7:53661225-53661226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546114338	chr7:53661245-53661246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375199859	chr7:53661271-53661272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368215534	chr7:53661302-53661303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531711067	chr7:53661316-53661317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146610571	chr7:53661339-53661340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567771629	chr7:53661344-53661345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535164662	chr7:53661351-53661352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114157738	chr7:53661386-53661387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560995859	chr7:53661405-53661406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181519486	chr7:53661411-53661412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566293525	chr7:53661481-53661482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs539115594	chr7:53661527-53661528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539727375	chr7:53661576-53661577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117560438	chr7:53661605-53661606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115165996	chr7:53661607-53661608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370662731	chr7:53661623-53661624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2161966	chr7:53661665-53661666	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs555748404	chr7:53661695-53661696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11974813	chr7:53661723-53661724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs535582164	chr7:53661736-53661737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11975558	chr7:53661764-53661765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs572172365	chr7:53661766-53661767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1559589	chr7:53661781-53661782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564325591	chr7:53661786-53661787	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
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:53655600-53671400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:53661600-53663600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:53662000-53662200	Enhancers	HUVEC	blood vessel
4	chr7:53662800-53663200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:53662800-53664600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:53663000-53664200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr7:53663200-53663400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:53663400-53663800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:53663400-53663800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:53663400-53664000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:53663400-53664200	Enhancers	Colon Smooth Muscle	Colon
12	chr7:53663400-53664400	Enhancers	NHEK	skin
13	chr7:53663400-53664600	Enhancers	HMEC	breast
14	chr7:53663400-53666800	Enhancers	Rectal Smooth Muscle	rectum
15	chr7:53663600-53664000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:53663600-53664000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:53663600-53664000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:53663600-53664200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:53663600-53664200	Enhancers	Ovary	ovary
20	chr7:53663600-53664400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:53663600-53664600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:53663600-53664600	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr7:53663600-53664600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:53663800-53664200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr7:53663800-53664600	Enhancers	HUVEC	blood vessel
26	chr7:53663800-53670400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:53664000-53664400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:53664200-53665200	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:53664200-53670400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr7:53664600-53667800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:53664600-53670400	Weak transcription	HMEC	breast
32	chr7:53665200-53666200	Enhancers	Colon Smooth Muscle	Colon
33	chr7:53667800-53668600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr7:53670400-53671200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:53670400-53671400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:53670400-53671600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:53670400-53671600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:53670400-53672000	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:53670400-53672000	Enhancers	Placenta	Placenta
40	chr7:53670400-53672000	Enhancers	NHEK	skin
41	chr7:53670400-53672200	Enhancers	HMEC	breast
42	chr7:53670800-53671200	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:53670800-53671600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:53671000-53671600	Enhancers	Esophagus	oesophagus
45	chr7:53671200-53671600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:53671400-53671600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:53672000-53677000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr7:53675600-53675800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:53676800-53677400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:53677000-53677400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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