Variant report

Variant	esv3381318
Chromosome Location	chr17:66484457-66486705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:66480053..66482691-chr17:66486689..66489527,2	K562	blood:
2	chr17:66486129..66489864-chr17:66505965..66510014,4	MCF-7	breast:
3	chr17:66482801..66484982-chr17:66486873..66489419,2	K562	blood:
4	chr17:66486234..66488484-chr17:66491556..66493277,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108946	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12451558	chr17:66484461-66484462	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528238211	chr17:66484525-66484526	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs115348161	chr17:66484546-66484547	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189883653	chr17:66484557-66484558	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529289106	chr17:66484623-66484624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550546823	chr17:66484627-66484628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569238576	chr17:66484635-66484636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146877763	chr17:66484669-66484670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183099761	chr17:66484678-66484679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201940685	chr17:66484715-66484716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187775112	chr17:66484903-66484904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139726469	chr17:66484995-66484996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370804297	chr17:66485003-66485004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs144385095	chr17:66485004-66485005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111886318	chr17:66485079-66485080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140975187	chr17:66485162-66485163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115967569	chr17:66485228-66485229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191935571	chr17:66485247-66485248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185099263	chr17:66485267-66485268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546133353	chr17:66485270-66485271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576328179	chr17:66485288-66485289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545253157	chr17:66485291-66485292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564184008	chr17:66485312-66485313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71142194	chr17:66485370-66485371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371148351	chr17:66485371-66485372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188760527	chr17:66485394-66485395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544312751	chr17:66485401-66485402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375339369	chr17:66485407-66485408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs36156096	chr17:66485436-66485437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370245689	chr17:66485457-66485458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548740135	chr17:66485458-66485459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112921035	chr17:66485470-66485471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200155167	chr17:66485481-66485482	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201282288	chr17:66485482-66485483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs71142195	chr17:66485498-66485499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528292201	chr17:66485505-66485506	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540044364	chr17:66485506-66485507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562244604	chr17:66485511-66485512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34001748	chr17:66485518-66485519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144009542	chr17:66485544-66485545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192688613	chr17:66485556-66485557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567125685	chr17:66485564-66485565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34286959	chr17:66485582-66485583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150196433	chr17:66485618-66485619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550634518	chr17:66485633-66485634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35967565	chr17:66485642-66485643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541302698	chr17:66485663-66485664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200249334	chr17:66485664-66485665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575668866	chr17:66485673-66485674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545698158	chr17:66485726-66485727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66467800-66487000	Weak transcription	Right Atrium	heart
2	chr17:66478400-66487600	Weak transcription	Gastric	stomach
3	chr17:66480800-66490600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr17:66481400-66486000	Weak transcription	Adipose Nuclei	Adipose
5	chr17:66481400-66488200	Weak transcription	Brain Hippocampus Middle	brain
6	chr17:66481600-66487000	Weak transcription	Brain Substantia Nigra	brain
7	chr17:66481800-66486200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr17:66482000-66487000	Weak transcription	Placenta	Placenta
9	chr17:66482400-66484600	Enhancers	HepG2	liver
10	chr17:66482400-66486200	Weak transcription	Left Ventricle	heart
11	chr17:66482400-66486400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr17:66482400-66486400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr17:66482400-66487000	Weak transcription	Ovary	ovary
14	chr17:66482600-66487800	Weak transcription	Liver	Liver
15	chr17:66482800-66484600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr17:66482800-66485000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr17:66483000-66484600	Enhancers	Primary B cells from cord blood	blood
18	chr17:66483000-66487000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr17:66483400-66484600	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr17:66483400-66485000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:66483400-66485200	Enhancers	Dnd41	blood
22	chr17:66483600-66484600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr17:66483600-66484600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr17:66483600-66484600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:66483600-66484800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr17:66483600-66484800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr17:66483600-66485000	Enhancers	Primary B cells from peripheral blood	blood
28	chr17:66483600-66485000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr17:66483600-66485000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:66483600-66485000	Enhancers	Fetal Thymus	thymus
31	chr17:66483600-66486400	Weak transcription	Spleen	Spleen
32	chr17:66483800-66485000	Enhancers	Primary T cells fromperipheralblood	blood
33	chr17:66484000-66484600	Flanking Active TSS	GM12878-XiMat	blood
34	chr17:66484000-66484800	Enhancers	Primary hematopoietic stem cells	blood
35	chr17:66484200-66484600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:66484200-66484600	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr17:66484200-66484600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr17:66484200-66484600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:66484200-66484600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr17:66484200-66484600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr17:66484200-66484600	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr17:66484200-66484800	Enhancers	Duodenum Mucosa	Duodenum
43	chr17:66484400-66485200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr17:66484400-66487600	Weak transcription	Esophagus	oesophagus
45	chr17:66484600-66484800	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr17:66484600-66485000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr17:66484600-66485000	Enhancers	GM12878-XiMat	blood
48	chr17:66484600-66485200	Enhancers	Primary T cells from cord blood	blood
49	chr17:66484600-66486200	Weak transcription	Primary B cells from cord blood	blood
50	chr17:66484600-66486200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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