Variant report

Variant	nsv523855
Chromosome Location	chr17:59496238-59516834
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:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:59502065..59505674-chr17:59627141..59629263,71	MCF-7	breast:
2	chr17:59503555..59506189-chr6:26053990..26056536,2	MCF-7	breast:
3	chr17:57922449..57924775-chr17:59501124..59502794,2	MCF-7	breast:
4	chr17:59501958..59502789-chr7:40112228..40112887,2	MCF-7	breast:
5	chr17:59499366..59501270-chr17:59937640..59939500,2	MCF-7	breast:
6	chr11:1749257..1751626-chr17:59494471..59496650,2	MCF-7	breast:
7	chr17:59507758..59509491-chr17:73716474..73719113,2	MCF-7	breast:
8	chr17:59503030..59503555-chr17:59628655..59629242,2	MCF-7	breast:
9	chr16:67232049..67232761-chr17:59503162..59504029,2	MCF-7	breast:
10	chr17:57987927..57990051-chr17:59514286..59517039,2	MCF-7	breast:
11	chr17:59504589..59505192-chr17:59651894..59652795,2	MCF-7	breast:
12	chr17:59503066..59503696-chr17:59910723..59911623,2	MCF-7	breast:
13	chr17:59513153..59514944-chr17:59573678..59576236,2	K562	blood:
14	chr17:59498730..59500384-chr17:59914987..59917975,2	MCF-7	breast:
15	chr17:59496517..59498736-chr17:59916457..59918359,2	MCF-7	breast:
16	chr17:59503255..59504047-chr17:59563844..59564623,2	MCF-7	breast:
17	chr17:59496687..59497666-chr17:59627914..59628881,2	MCF-7	breast:
18	chr17:59501621..59503668-chr2:85581004..85583349,2	MCF-7	breast:
19	chr1:145382523..145384247-chr17:59511631..59513358,2	MCF-7	breast:
20	chr17:59487326..59489669-chr17:59503359..59506323,2	K562	blood:
21	chr17:59447417..59500105-chr20:49391742..49424382,639	MCF-7	breast:
22	chr17:59493836..59494762-chr17:59503116..59503965,2	MCF-7	breast:
23	chr17:59500165..59502165-chr20:52254112..52255811,2	MCF-7	breast:
24	chr17:59509207..59509947-chr17:59628245..59628806,2	MCF-7	breast:
25	chr17:59505154..59505828-chr17:59627006..59627633,2	MCF-7	breast:
26	chr17:59489694..59490861-chr17:59502803..59503675,3	MCF-7	breast:
27	chr1:121484312..121485026-chr17:59503736..59504425,2	MCF-7	breast:
28	chr17:59501828..59503917-chr17:59996111..59998118,2	MCF-7	breast:
29	chr17:59497346..59499681-chr17:59911621..59914856,3	MCF-7	breast:
30	chr17:59496790..59499054-chr20:49345945..49348014,2	MCF-7	breast:
31	chr12:56550296..56552993-chr17:59504915..59507010,2	MCF-7	breast:
32	chr17:59494281..59494852-chr17:59503602..59504167,2	MCF-7	breast:
33	chr17:59504216..59505098-chr17:59627806..59628736,3	MCF-7	breast:
34	chr17:59494068..59494738-chr17:59501817..59502863,3	MCF-7	breast:
35	chr17:45765002..45766681-chr17:59500785..59503339,2	MCF-7	breast:
36	chr17:59502750..59505120-chr17:59650612..59653501,43	MCF-7	breast:
37	chr17:59495657..59496476-chr17:59652000..59652709,3	MCF-7	breast:
38	chr17:59507643..59509966-chr7:127833614..127836412,2	MCF-7	breast:
39	chr17:59503141..59505050-chr17:59660125..59661713,14	MCF-7	breast:
40	chr17:59495936..59496546-chr17:59660486..59661234,2	MCF-7	breast:
41	chr17:59494095..59496860-chr20:45948764..45950975,2	MCF-7	breast:
42	chr17:57927412..57930342-chr17:59494617..59497074,2	MCF-7	breast:
43	chr17:59492727..59496859-chr17:59625979..59629778,204	MCF-7	breast:
44	chr17:59502177..59503729-chr20:55838935..55841376,2	MCF-7	breast:
45	chr17:59503028..59504104-chr17:59628125..59629344,21	MCF-7	breast:
46	chr17:59504130..59506269-chr17:59950054..59951810,2	MCF-7	breast:
47	chr17:59503085..59504020-chr17:59914069..59915032,4	MCF-7	breast:
48	chr17:59496898..59499415-chr20:52415404..52417279,2	MCF-7	breast:
49	chr12:120728848..120730983-chr17:59496123..59498287,2	MCF-7	breast:
50	chr1:245131855..245133620-chr17:59503548..59506428,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000203666	chromatin interactions
ENSG00000202361	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000153560	chromatin interactions
ENSG00000101144	chromatin interactions
ENSG00000092841	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000196465	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000241913	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000108506	chromatin interactions
ENSG00000042445	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000132470	chromatin interactions
ENSG00000115459	chromatin interactions
ENSG00000124243	chromatin interactions
ENSG00000257809	chromatin interactions

Extended variants
information (count: 698 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:698 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9905140	chr17:59496238-59496239	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs75909830	chr17:59496290-59496291	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562847574	chr17:59496321-59496322	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs74499325	chr17:59496345-59496346	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs568790031	chr17:59496362-59496363	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs537835634	chr17:59496385-59496386	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs181725454	chr17:59496443-59496444	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs186124034	chr17:59496461-59496462	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs533979737	chr17:59496462-59496463	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs574415345	chr17:59496474-59496475	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs553970829	chr17:59496475-59496476	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs577103948	chr17:59496479-59496480	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs4636977	chr17:59496502-59496503	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs563635009	chr17:59496511-59496512	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs556597156	chr17:59496531-59496532	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs188878058	chr17:59496555-59496556	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs542172477	chr17:59496560-59496561	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562263984	chr17:59496596-59496597	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs181339750	chr17:59496600-59496601	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs2079795	chr17:59496649-59496650	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
21	rs371418735	chr17:59496652-59496653	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs541233622	chr17:59496654-59496655	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs139481082	chr17:59496662-59496663	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs375444355	chr17:59496663-59496664	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533329253	chr17:59496770-59496771	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs114282413	chr17:59496784-59496785	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs740755	chr17:59496797-59496798	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186355069	chr17:59496800-59496801	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs740754	chr17:59496860-59496861	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs538855927	chr17:59496876-59496877	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs60280356	chr17:59496879-59496880	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs116960885	chr17:59496894-59496895	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs740753	chr17:59496927-59496928	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539604580	chr17:59496944-59496945	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs368455770	chr17:59497039-59497040	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs77780962	chr17:59497107-59497108	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs182755987	chr17:59497144-59497145	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs73991918	chr17:59497167-59497168	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs143231973	chr17:59497170-59497171	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs572096347	chr17:59497204-59497205	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs541355359	chr17:59497262-59497263	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs757608	chr17:59497277-59497278	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
43	rs9898324	chr17:59497310-59497311	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs187418487	chr17:59497321-59497322	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs547477849	chr17:59497326-59497327	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs112804400	chr17:59497344-59497345	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs565791609	chr17:59497358-59497359	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs531396906	chr17:59497372-59497373	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs570214861	chr17:59497404-59497405	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs183098534	chr17:59497413-59497414	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Autism	22102821	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59491000-59504200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:59494600-59496800	Weak transcription	Lung	lung
3	chr17:59494600-59503000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:59494800-59496400	Enhancers	HepG2	liver
5	chr17:59494800-59496800	Weak transcription	Pancreas	Pancrea
6	chr17:59495000-59497200	Weak transcription	Fetal Lung	lung
7	chr17:59495600-59497200	Weak transcription	Placenta	Placenta
8	chr17:59495600-59503400	Weak transcription	NHLF	lung
9	chr17:59496400-59497000	Weak transcription	HepG2	liver
10	chr17:59496800-59497000	Enhancers	Pancreas	Pancrea
11	chr17:59497000-59497200	Enhancers	Lung	lung
12	chr17:59497000-59497600	Enhancers	HepG2	liver
13	chr17:59497200-59497400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:59497200-59497400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:59497200-59497400	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:59497200-59497600	Enhancers	Placenta	Placenta
17	chr17:59497200-59498000	Enhancers	Dnd41	blood
18	chr17:59497200-59498200	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr17:59497200-59498600	Enhancers	Fetal Lung	lung
20	chr17:59497600-59498000	Bivalent Enhancer	Fetal Stomach	stomach
21	chr17:59497600-59503000	Weak transcription	HepG2	liver
22	chr17:59499600-59500200	Enhancers	Fetal Lung	lung
23	chr17:59500000-59500400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:59500000-59501200	Enhancers	Fetal Intestine Large	intestine
25	chr17:59500400-59503600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:59501200-59504800	Weak transcription	Fetal Intestine Large	intestine
27	chr17:59501600-59502000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:59501800-59503800	Enhancers	Fetal Muscle Leg	muscle
29	chr17:59502200-59503800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr17:59503000-59503400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr17:59503000-59503600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:59503000-59504600	Enhancers	A549	lung
33	chr17:59503000-59505000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:59503000-59505400	Enhancers	HepG2	liver
35	chr17:59503200-59503400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr17:59503200-59503400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr17:59503200-59503400	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr17:59503200-59503400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr17:59503200-59503400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr17:59503200-59504000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr17:59503200-59504600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr17:59503400-59503600	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr17:59503400-59503600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr17:59503400-59503600	Enhancers	NHLF	lung
45	chr17:59503400-59504600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:59503400-59509000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr17:59503600-59504000	Weak transcription	NHLF	lung
48	chr17:59503600-59504800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:59504000-59505000	Enhancers	NHLF	lung
50	chr17:59504200-59504400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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