Variant report

Variant	nsv457864
Chromosome Location	chr17:59612041-59646764
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:152)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:152 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr17:44567076..44568576-chr17:59642520..59644055,2	MCF-7	breast:
2	chr17:59629285..59630173-chr17:59651966..59652945,2	MCF-7	breast:
3	chr17:59638559..59639093-chr17:59800446..59801004,2	MCF-7	breast:
4	chr17:59644566..59646787-chr20:49409333..49412308,3	MCF-7	breast:
5	chr17:59628328..59629238-chr20:49409570..49410212,2	MCF-7	breast:
6	chr17:59509207..59509947-chr17:59628245..59628806,2	MCF-7	breast:
7	chr14:90324063..90324835-chr17:59639672..59640420,2	MCF-7	breast:
8	chr17:59627423..59629533-chr17:59833578..59836014,2	MCF-7	breast:
9	chr17:55320150..55320959-chr17:59628141..59628696,2	MCF-7	breast:
10	chr17:59547628..59548550-chr17:59628116..59628979,4	MCF-7	breast:
11	chr17:59489403..59490099-chr17:59627560..59628195,2	MCF-7	breast:
12	chr17:59626636..59627542-chr17:59635173..59635769,2	MCF-7	breast:
13	chr17:59628760..59634209-chr20:49409655..49413079,5	MCF-7	breast:
14	chr17:59628231..59629240-chr17:59645949..59646723,4	MCF-7	breast:
15	chr1:150951711..150952336-chr17:59627467..59628156,2	MCF-7	breast:
16	chr17:57920580..57922883-chr17:59639262..59641324,2	MCF-7	breast:
17	chr17:59641783..59644621-chr17:60141604..60143594,2	MCF-7	breast:
18	chr17:59488052..59488861-chr17:59628476..59629187,2	MCF-7	breast:
19	chr17:59644483..59646249-chr8:97970825..97972590,2	MCF-7	breast:
20	chr17:59632406..59633060-chr17:59645700..59646561,2	MCF-7	breast:
21	chr17:59492727..59496859-chr17:59625979..59629778,204	MCF-7	breast:
22	chr17:59631426..59634158-chr17:59913893..59915634,3	MCF-7	breast:
23	chr17:59489126..59490399-chr17:59644784..59645856,3	MCF-7	breast:
24	chr17:59624410..59625951-chr17:59626467..59628486,2	MCF-7	breast:
25	chr17:59618465..59619967-chr20:49348076..49350865,2	MCF-7	breast:
26	chr17:59631722..59632374-chr17:59651789..59652541,2	MCF-7	breast:
27	chr17:59632186..59636046-chr20:49410374..49412887,4	MCF-7	breast:
28	chr17:59624355..59624932-chr2:78345304..78345966,2	MCF-7	breast:
29	chr17:59628195..59629138-chr20:49406925..49407798,8	MCF-7	breast:
30	chr1:107518255..107519257-chr17:59628159..59629139,6	MCF-7	breast:
31	chr17:59644412..59646069-chr17:59940439..59942115,2	MCF-7	breast:
32	chr17:59644529..59646404-chr20:52213102..52214936,2	MCF-7	breast:
33	chr17:59470756..59471632-chr17:59627334..59628259,2	MCF-7	breast:
34	chr17:59628189..59629096-chr20:49410948..49411875,7	MCF-7	breast:
35	chr17:59628279..59629114-chr17:79451131..79451877,2	MCF-7	breast:
36	chr17:59550471..59551025-chr17:59628560..59629316,2	MCF-7	breast:
37	chr17:59612978..59614544-chr20:49346043..49348789,2	MCF-7	breast:
38	chr17:59611230..59614063-chr2:169311401..169314222,2	MCF-7	breast:
39	chr17:59628307..59629309-chr17:59651838..59652851,13	MCF-7	breast:
40	chr17:59632406..59633060-chr17:59645700..59646561,2	MCF-7	breast:
41	chr17:59493773..59494465-chr17:59628167..59629069,3	MCF-7	breast:
42	chr17:59628286..59629106-chr4:119811255..119812017,2	MCF-7	breast:
43	chr17:59628447..59629285-chr17:59660315..59661120,2	MCF-7	breast:
44	chr17:59628255..59629034-chr2:12572988..12573516,2	MCF-7	breast:
45	chr17:59643078..59646172-chr20:49409320..49413355,4	MCF-7	breast:
46	chr1:107500195..107501055-chr17:59628645..59629205,2	MCF-7	breast:
47	chr17:59624503..59625418-chr22:26705023..26706023,2	MCF-7	breast:
48	chr17:59627657..59628305-chr17:59645768..59646441,2	MCF-7	breast:
49	chr1:149222401..149225374-chr17:59632881..59634432,2	MCF-7	breast:
50	chr17:59493298..59494870-chr17:59631334..59633396,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000176248	chromatin interactions
ENSG00000100591	chromatin interactions
ENSG00000141580	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000108510	chromatin interactions
ENSG00000106299	chromatin interactions
ENSG00000196542	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000189143	chromatin interactions
ENSG00000085449	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000226308	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000172292	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000272686	chromatin interactions
ENSG00000151445	chromatin interactions
ENSG00000101132	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000174945	chromatin interactions
ENSG00000121075	chromatin interactions
ENSG00000124243	chromatin interactions

Extended variants
information (count: 1010 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1010 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8071653	chr17:59612041-59612042	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs560535436	chr17:59612065-59612066	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs529987289	chr17:59612099-59612100	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568720623	chr17:59612127-59612128	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535132050	chr17:59612138-59612139	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs186609822	chr17:59612206-59612207	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566557784	chr17:59612208-59612209	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs113922288	chr17:59612308-59612309	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572559836	chr17:59612384-59612385	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192581776	chr17:59612417-59612418	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs550156084	chr17:59612462-59612463	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183263636	chr17:59612495-59612496	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs187637190	chr17:59612498-59612499	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs80313903	chr17:59612534-59612535	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs117238984	chr17:59612570-59612571	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs568650932	chr17:59612616-59612617	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs8072299	chr17:59612641-59612642	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs376324682	chr17:59612653-59612654	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557381591	chr17:59612704-59612705	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554413672	chr17:59612720-59612721	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs59106264	chr17:59612733-59612734	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs546016905	chr17:59612816-59612817	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573331687	chr17:59612828-59612829	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs556325925	chr17:59612830-59612831	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs193066345	chr17:59612849-59612850	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs543898320	chr17:59612878-59612879	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560551563	chr17:59612954-59612955	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs78355487	chr17:59612995-59612996	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs375937094	chr17:59613118-59613119	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs10668023	chr17:59613136-59613137	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs3034399	chr17:59613138-59613139	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs4968438	chr17:59613213-59613214	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs560367149	chr17:59613214-59613215	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs4968439	chr17:59613221-59613222	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs4968440	chr17:59613258-59613259	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs192570166	chr17:59613261-59613262	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs12944250	chr17:59613311-59613312	Inactive region	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs575671371	chr17:59613372-59613373	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs183636774	chr17:59613400-59613401	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs576260729	chr17:59613411-59613412	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs534173095	chr17:59613412-59613413	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs547455156	chr17:59613413-59613414	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs201236204	chr17:59613428-59613429	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs571159109	chr17:59613435-59613436	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs561667881	chr17:59613438-59613439	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs539732562	chr17:59613472-59613473	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs371258954	chr17:59613507-59613508	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs8077606	chr17:59613545-59613546	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs576178760	chr17:59613566-59613567	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs188050973	chr17:59613569-59613570	Inactive region	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Breast cancer	20953835	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
Acute myeloid leukemia	21251322	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	21467264	CNVD
Ovarian neoplasms	16753589	CNVD
Myxofibrosarcoma	16751306	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
Sezary syndrome	18413736	CNVD
Sensorineural hearing loss	22052739	CNVD
intellectual deficit	22052739	CNVD
no characteristic dysmorphism	22052739	CNVD
speech delay	22052739	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59612400-59612800	Enhancers	A549	lung
2	chr17:59613600-59614200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr17:59613600-59614200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:59613600-59614200	Active TSS	Osteobl	bone
5	chr17:59613600-59614400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr17:59613800-59614200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr17:59613800-59614200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:59613800-59614200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:59613800-59614200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:59613800-59614200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:59613800-59614200	Active TSS	Muscle Satellite Cultured Cells	--
12	chr17:59613800-59614200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:59613800-59614200	Active TSS	Adipose Nuclei	Adipose
14	chr17:59613800-59614200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr17:59613800-59614200	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr17:59613800-59614200	Active TSS	Ovary	ovary
17	chr17:59613800-59614200	Active TSS	Rectal Mucosa Donor 31	rectum
18	chr17:59613800-59614200	Active TSS	Rectal Smooth Muscle	rectum
19	chr17:59613800-59614200	Enhancers	Stomach Mucosa	stomach
20	chr17:59613800-59614200	Active TSS	GM12878-XiMat	blood
21	chr17:59613800-59614200	Active TSS	HepG2	liver
22	chr17:59613800-59614200	Bivalent/Poised TSS	HSMM	muscle
23	chr17:59613800-59614200	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr17:59613800-59614200	Active TSS	NHDF-Ad	bronchial
25	chr17:59613800-59614400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:59613800-59614400	Active TSS	Fetal Lung	lung
27	chr17:59613800-59614400	Active TSS	NHLF	lung
28	chr17:59614000-59614400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr17:59628600-59629200	Enhancers	A549	lung
30	chr17:59628800-59629000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:59628800-59629000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:59628800-59629000	Enhancers	Fetal Lung	lung
33	chr17:59628800-59629200	Enhancers	HepG2	liver
34	chr17:59629000-59631400	Weak transcription	Fetal Lung	lung
35	chr17:59629200-59631400	Weak transcription	A549	lung
36	chr17:59630000-59633400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:59630400-59634600	Enhancers	Dnd41	blood
38	chr17:59631200-59633400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr17:59631400-59633600	Enhancers	A549	lung
40	chr17:59631400-59633800	Enhancers	Fetal Lung	lung
41	chr17:59631600-59631800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:59632200-59633400	Enhancers	Hela-S3	cervix
43	chr17:59633000-59633600	Enhancers	NHLF	lung
44	chr17:59633400-59633800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:59633400-59633800	Bivalent Enhancer	Osteobl	bone
46	chr17:59633400-59634400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr17:59633600-59633800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr17:59633600-59634000	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr17:59633600-59634200	Flanking Active TSS	NHLF	lung
50	chr17:59633600-59634400	Flanking Active TSS	A549	lung

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