Variant report

Variant	nsv523831
Chromosome Location	chr17:66733138-66738905
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	chr17:66737087..66737621-chr17:66755772..66756274,2	MCF-7	breast:

Extended variants
information (count: 229 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4283281	chr17:66733138-66733139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113667308	chr17:66733201-66733202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185956937	chr17:66733299-66733300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs201826957	chr17:66733338-66733339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141362939	chr17:66733343-66733344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371137156	chr17:66733344-66733345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548556110	chr17:66733377-66733378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569110762	chr17:66733380-66733381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113485112	chr17:66733381-66733382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78369515	chr17:66733395-66733396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs189270116	chr17:66733439-66733440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73353019	chr17:66733448-66733449	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs117266129	chr17:66733453-66733454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570530719	chr17:66733454-66733455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367551200	chr17:66733455-66733456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553055643	chr17:66733456-66733457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145808067	chr17:66733464-66733465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181019854	chr17:66733501-66733502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76952159	chr17:66733507-66733508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4405611	chr17:66733509-66733510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4405612	chr17:66733514-66733515	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs114347344	chr17:66733559-66733560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560076872	chr17:66733597-66733598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114786194	chr17:66733602-66733603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148546035	chr17:66733626-66733627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187123023	chr17:66733627-66733628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73353020	chr17:66733644-66733645	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs75098109	chr17:66733648-66733649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542402670	chr17:66733655-66733656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563767663	chr17:66733669-66733670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531204270	chr17:66733733-66733734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552476570	chr17:66733751-66733752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12943063	chr17:66733765-66733766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570468038	chr17:66733768-66733769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142859083	chr17:66733771-66733772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546631433	chr17:66733799-66733800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146557377	chr17:66733806-66733807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375980271	chr17:66733808-66733809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12943105	chr17:66733812-66733813	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141181531	chr17:66733827-66733828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569766932	chr17:66733830-66733831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537313355	chr17:66733885-66733886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191038131	chr17:66733918-66733919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73353022	chr17:66733932-66733933	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs555365099	chr17:66733943-66733944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182869375	chr17:66733979-66733980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541016445	chr17:66733989-66733990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552737477	chr17:66734021-66734022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145582833	chr17:66734038-66734039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370080883	chr17:66734051-66734052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Congenital generalized hypertrichosis terminalis	19463983	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
XY gonadal dysgenesis	20685758	CNVD
Gingival hyperplasia	19463983	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neuroblastoma	20406844	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16417655	CNVD
Breast cancer	21045282	CNVD
Epilepsy	22083797	CNVD
Sezary syndrome	18413736	CNVD
Honadal dysgenesis	21408189	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66729000-66734600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:66729800-66733400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:66730400-66734000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr17:66730800-66733600	Weak transcription	Fetal Lung	lung
5	chr17:66731000-66736800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:66731200-66734000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr17:66731400-66733400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr17:66731400-66733400	Weak transcription	Left Ventricle	heart
9	chr17:66731400-66733400	Weak transcription	Ovary	ovary
10	chr17:66731400-66733600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr17:66731400-66733800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr17:66731400-66733800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr17:66731400-66734200	Weak transcription	HSMMtube	muscle
14	chr17:66731600-66733600	Weak transcription	Fetal Heart	heart
15	chr17:66731600-66734000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr17:66731600-66734000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr17:66732200-66733400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:66733000-66733800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:66733400-66733600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr17:66733400-66733600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr17:66733400-66733600	Enhancers	Left Ventricle	heart
22	chr17:66733400-66734200	Enhancers	Fetal Kidney	kidney
23	chr17:66733400-66734400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr17:66733400-66734600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:66733400-66734600	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr17:66733400-66734600	Enhancers	Ovary	ovary
27	chr17:66733600-66734000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr17:66733600-66734000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr17:66733600-66734000	Weak transcription	Left Ventricle	heart
30	chr17:66733600-66734200	Enhancers	Fetal Lung	lung
31	chr17:66733600-66734600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr17:66733600-66734600	Enhancers	Fetal Heart	heart
33	chr17:66733600-66734800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr17:66733800-66734400	Enhancers	Liver	Liver
35	chr17:66733800-66734600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr17:66733800-66734600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr17:66734000-66734200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr17:66734000-66734200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr17:66734000-66734200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr17:66734000-66734400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr17:66734000-66734600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr17:66734000-66734600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr17:66734000-66734600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr17:66734000-66734600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr17:66734000-66734600	Enhancers	Left Ventricle	heart
46	chr17:66734000-66734800	Enhancers	H1 Cell Line	embryonic stem cell
47	chr17:66734000-66734800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr17:66734000-66735200	Enhancers	Fetal Brain Male	brain
49	chr17:66734200-66734400	Enhancers	HepG2	liver
50	chr17:66734200-66734400	Enhancers	HSMMtube	muscle

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