Variant report

Variant	nsv978449
Chromosome Location	chr17:60250217-60275707
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:49)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60250180..60252867-chr17:60253287..60256063,2	K562	blood:
2	chr17:60256964..60259991-chr17:60261434..60263132,3	K562	blood:
3	chr17:60247606..60249612-chr17:60262844..60265837,2	MCF-7	breast:
4	chr17:60258183..60261369-chr17:60263622..60265980,4	MCF-7	breast:
5	chr17:60251367..60253248-chr17:60253287..60254965,2	K562	blood:
6	chr17:60258108..60261075-chr17:60264470..60267824,3	MCF-7	breast:
7	chr17:60255980..60258694-chr17:60266077..60267874,2	MCF-7	breast:
8	chr17:60145133..60145885-chr17:60256686..60257397,2	MCF-7	breast:
9	chr17:60262528..60265066-chr17:60269531..60271541,2	MCF-7	breast:
10	chr17:60262528..60265066-chr17:60269531..60271541,2	MCF-7	breast:
11	chr17:60258108..60261075-chr17:60264470..60267824,3	MCF-7	breast:
12	chr17:60255625..60257786-chr17:60266377..60268495,2	MCF-7	breast:
13	chr17:60245507..60247251-chr17:60254407..60257109,2	K562	blood:
14	chr17:60249385..60251655-chr17:60256547..60258205,3	K562	blood:
15	chr17:60249385..60251655-chr17:60256547..60258205,3	K562	blood:
16	chr17:60265376..60268342-chr17:60268367..60272077,4	MCF-7	breast:
17	chr17:60242920..60246117-chr17:60246447..60250898,5	K562	blood:
18	chr17:60255980..60258694-chr17:60266077..60267874,2	MCF-7	breast:
19	chr17:60235421..60237184-chr17:60249329..60253044,3	K562	blood:
20	chr17:60264159..60269831-chr17:60270866..60277110,6	MCF-7	breast:
21	chr17:60249202..60250885-chr17:60256165..60258121,2	K562	blood:
22	chr17:60140300..60144471-chr17:60264704..60268841,3	MCF-7	breast:
23	chr17:60256964..60259991-chr17:60261434..60263132,3	K562	blood:
24	chr17:60255133..60257940-chr17:60262208..60263718,3	MCF-7	breast:
25	chr17:60246469..60248862-chr17:60251722..60253230,2	MCF-7	breast:
26	chr17:60255133..60257940-chr17:60262208..60263718,3	MCF-7	breast:
27	chr17:60255625..60257786-chr17:60266377..60268495,2	MCF-7	breast:
28	chr17:60251367..60253248-chr17:60253287..60254965,2	K562	blood:
29	chr17:60226215..60228011-chr17:60264780..60266849,2	MCF-7	breast:
30	chr17:60258183..60261369-chr17:60263622..60265980,4	MCF-7	breast:
31	chr17:60247352..60252279-chr17:60252798..60257282,6	MCF-7	breast:
32	chr17:60004079..60006235-chr17:60254598..60258700,3	MCF-7	breast:
33	chr17:60235421..60237553-chr17:60249662..60251931,2	K562	blood:
34	chr17:60249047..60251466-chr17:60263902..60266011,2	K562	blood:
35	chr17:60265376..60268342-chr17:60268367..60272077,4	MCF-7	breast:
36	chr17:60255796..60259990-chr17:60264075..60265967,3	K562	blood:
37	chr17:60241355..60244140-chr17:60255919..60257543,2	K562	blood:
38	chr17:60249202..60250885-chr17:60256165..60258121,2	K562	blood:
39	chr17:60186732..60187486-chr17:60256737..60257571,2	MCF-7	breast:
40	chr17:60187598..60189344-chr17:60255712..60257679,2	MCF-7	breast:
41	chr17:60186598..60188034-chr17:60256263..60257987,14	MCF-7	breast:
42	chr17:60264159..60269831-chr17:60270866..60277110,6	MCF-7	breast:
43	chr17:60248066..60250089-chr17:60251705..60253318,2	K562	blood:
44	chr17:60250180..60252867-chr17:60253287..60256063,2	K562	blood:
45	chr17:60141743..60144066-chr17:60254481..60256603,2	MCF-7	breast:
46	chr17:60249047..60251466-chr17:60263902..60266011,2	K562	blood:
47	chr17:60247352..60252279-chr17:60252798..60257282,6	MCF-7	breast:
48	chr17:60245751..60247782-chr17:60254407..60256973,2	K562	blood:
49	chr17:60255796..60259990-chr17:60264075..60265967,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108510	chromatin interactions
ENSG00000108506	chromatin interactions

Extended variants
information (count: 954 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:954 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368994337	chr17:60250239-60250240	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181012664	chr17:60250266-60250267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs117877024	chr17:60250278-60250279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs559274262	chr17:60250370-60250371	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs9911013	chr17:60250414-60250415	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs372670207	chr17:60250431-60250432	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs561083679	chr17:60250450-60250451	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs530107320	chr17:60250462-60250463	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs540337485	chr17:60250512-60250513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs529771586	chr17:60250520-60250521	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs560649071	chr17:60250524-60250525	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs71375821	chr17:60250543-60250544	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs186210287	chr17:60250550-60250551	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs551189322	chr17:60250551-60250552	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs9911624	chr17:60250558-60250559	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs530753600	chr17:60250559-60250560	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs578205715	chr17:60250633-60250634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201233092	chr17:60250636-60250637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567124167	chr17:60250640-60250641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs74502933	chr17:60250653-60250654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546362796	chr17:60250724-60250725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566603167	chr17:60250725-60250726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs386798237	chr17:60250766-60250767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs57418130	chr17:60250769-60250770	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371752327	chr17:60250916-60250917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111644821	chr17:60250926-60250927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191451119	chr17:60250959-60250960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183238578	chr17:60251062-60251063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111586681	chr17:60251108-60251109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185853233	chr17:60251229-60251230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150414463	chr17:60251316-60251317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555262828	chr17:60251375-60251376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34916227	chr17:60251404-60251405	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs367700515	chr17:60251454-60251455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs12938789	chr17:60251516-60251517	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560191625	chr17:60251550-60251551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113070470	chr17:60251661-60251662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183174681	chr17:60251689-60251690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187859802	chr17:60251697-60251698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs76436276	chr17:60251782-60251783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549804439	chr17:60251784-60251785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192205426	chr17:60251831-60251832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368069831	chr17:60251853-60251854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182920984	chr17:60251870-60251871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571524924	chr17:60251974-60251975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529638251	chr17:60252014-60252015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558403309	chr17:60252016-60252017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546624757	chr17:60252036-60252037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140433234	chr17:60252046-60252047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113020836	chr17:60252047-60252048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Basal cell lymphoma	17053054	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
Breast cancer	21364760	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Sensorineural hearing loss	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD

Chromatin state (count:154 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60241600-60255800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:60247200-60250600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:60249000-60250400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:60249200-60250400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr17:60249200-60255800	Weak transcription	A549	lung
6	chr17:60250000-60250600	Flanking Active TSS	K562	blood
7	chr17:60250200-60250400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr17:60250200-60255800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:60250400-60256200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:60250600-60251800	Enhancers	K562	blood
11	chr17:60251800-60255800	Weak transcription	K562	blood
12	chr17:60253400-60256000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr17:60255600-60257600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:60255600-60257600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr17:60255600-60257600	Enhancers	Hela-S3	cervix
16	chr17:60255600-60258200	Enhancers	Placenta	Placenta
17	chr17:60255800-60256600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:60255800-60256600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr17:60255800-60256600	Enhancers	NHDF-Ad	bronchial
20	chr17:60255800-60256800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:60255800-60257200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:60255800-60257200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:60255800-60257200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr17:60255800-60257200	Enhancers	NH-A	brain
25	chr17:60255800-60257400	Enhancers	Osteobl	bone
26	chr17:60255800-60257600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr17:60255800-60257600	Enhancers	A549	lung
28	chr17:60255800-60257600	Enhancers	HMEC	breast
29	chr17:60255800-60257600	Enhancers	HUVEC	blood vessel
30	chr17:60255800-60257600	Enhancers	NHEK	skin
31	chr17:60255800-60258400	Enhancers	K562	blood
32	chr17:60256000-60256200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr17:60256000-60256200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr17:60256000-60256200	Enhancers	Fetal Intestine Large	intestine
35	chr17:60256000-60256400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr17:60256000-60257200	Enhancers	NHLF	lung
37	chr17:60256000-60257400	Enhancers	HSMMtube	muscle
38	chr17:60256000-60257600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr17:60256200-60256800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:60256200-60257000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr17:60256200-60257200	Weak transcription	Fetal Intestine Large	intestine
42	chr17:60256200-60257400	Enhancers	HSMM	muscle
43	chr17:60256200-60257800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr17:60256400-60256600	Enhancers	HepG2	liver
45	chr17:60256400-60257600	Enhancers	Fetal Intestine Small	intestine
46	chr17:60256400-60257600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr17:60256600-60257200	Weak transcription	NHDF-Ad	bronchial
48	chr17:60256800-60257400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr17:60256800-60257400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr17:60257000-60257200	Enhancers	Stomach Mucosa	stomach

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