Variant report

Variant	nsv528095
Chromosome Location	chr7:110272427-110302695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:110289764..110291732-chr7:110329023..110331398,2	K562	blood:
2	chr7:110283093..110285639-chr7:111200637..111202273,2	K562	blood:
3	chr7:110266469..110268486-chr7:110276547..110278865,2	K562	blood:

Variant related genes	Relation type
ENSG00000184903	chromatin interactions

Extended variants
information (count: 808 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:808 , 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	rs1404915	chr7:110272427-110272428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577333058	chr7:110272437-110272438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538209834	chr7:110272449-110272450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563857076	chr7:110272461-110272462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189323860	chr7:110272464-110272465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140390873	chr7:110272468-110272469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559924011	chr7:110272474-110272475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182022309	chr7:110272475-110272476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548574871	chr7:110272552-110272553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562080986	chr7:110272602-110272603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528220299	chr7:110272610-110272611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556504143	chr7:110272679-110272680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145284734	chr7:110272701-110272702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570616046	chr7:110272755-110272756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375866044	chr7:110272757-110272758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs9969261	chr7:110272870-110272871	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs546267551	chr7:110272911-110272912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566202154	chr7:110272916-110272917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535187781	chr7:110272928-110272929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs137880401	chr7:110272929-110272930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574894840	chr7:110272973-110272974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541752342	chr7:110273005-110273006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142299763	chr7:110273021-110273022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529296044	chr7:110273027-110273028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150538199	chr7:110273073-110273074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138424274	chr7:110273165-110273166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546111640	chr7:110273195-110273196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs58272598	chr7:110273207-110273208	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs573341280	chr7:110273226-110273227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs115716547	chr7:110273231-110273232	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562017047	chr7:110273248-110273249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs73433248	chr7:110273298-110273299	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550835734	chr7:110273307-110273308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149409590	chr7:110273317-110273318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563809221	chr7:110273347-110273348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144774178	chr7:110273348-110273349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148594593	chr7:110273351-110273352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145658930	chr7:110273352-110273353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542968555	chr7:110273363-110273364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535130163	chr7:110273379-110273380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147313451	chr7:110273381-110273382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568828155	chr7:110273409-110273410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570380452	chr7:110273415-110273416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187336243	chr7:110273422-110273423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557613497	chr7:110273437-110273438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76209042	chr7:110273453-110273454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540152562	chr7:110273473-110273474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190902923	chr7:110273527-110273528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375948342	chr7:110273528-110273529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573479069	chr7:110273569-110273570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:110267200-110273800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:110268400-110273200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:110271000-110275200	Weak transcription	Aorta	Aorta
4	chr7:110272200-110273800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr7:110272200-110274000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:110272400-110273200	Enhancers	Fetal Heart	heart
7	chr7:110272400-110273600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr7:110272400-110273800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:110272400-110273800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr7:110272400-110274000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:110272600-110273600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:110272800-110273400	Enhancers	Colon Smooth Muscle	Colon
13	chr7:110272800-110274000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:110273200-110274000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:110273200-110274000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:110273800-110274000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:110273800-110275600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr7:110274000-110281200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:110275200-110275400	ZNF genes & repeats	Aorta	Aorta
20	chr7:110280800-110281200	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:110281200-110281400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:110285000-110286600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:110286800-110287600	Enhancers	Fetal Brain Male	brain
24	chr7:110287000-110287400	Enhancers	Fetal Heart	heart
25	chr7:110287200-110289200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:110287400-110287800	Enhancers	Fetal Brain Female	brain
27	chr7:110289800-110290400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr7:110289800-110290800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr7:110289800-110292000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:110290000-110290800	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:110290400-110290800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr7:110300400-110300600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:110300400-110301200	ZNF genes & repeats	Pancreas	Pancrea
34	chr7:110300600-110300800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:110300600-110302200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:110300800-110302400	ZNF genes & repeats	Ovary	ovary
37	chr7:110301200-110303200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:110301200-110311600	Weak transcription	Pancreas	Pancrea
39	chr7:110301400-110302400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
40	chr7:110302400-110303200	Weak transcription	Ovary	ovary
41	chr7:110302400-110303600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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