Variant report

Variant	nsv1050771
Chromosome Location	chr9:85416931-85643417
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:89)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:89 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:85552710..85555022-chr9:85561704..85563233,2	MCF-7	breast:
2	chr9:84300821..84303529-chr9:85547093..85551016,4	MCF-7	breast:
3	chr9:85618116..85621045-chr9:85621802..85624591,3	MCF-7	breast:
4	chr9:85626061..85627670-chr9:85628324..85631017,2	MCF-7	breast:
5	chr9:85568255..85570066-chr9:85581948..85584043,2	MCF-7	breast:
6	chr9:85563140..85565431-chr9:85567706..85570492,2	K562	blood:
7	chr20:46317737..46318414-chr9:85462863..85463456,2	MCF-7	breast:
8	chr9:85576162..85576940-chr9:85834338..85835195,3	MCF-7	breast:
9	chr9:85424299..85426000-chr9:85427437..85429063,2	MCF-7	breast:
10	chr9:85519169..85522016-chr9:85676128..85677993,2	MCF-7	breast:
11	chr9:85420090..85420656-chr9:85576435..85577075,2	MCF-7	breast:
12	chr9:85604957..85606765-chr9:85610230..85612292,2	MCF-7	breast:
13	chr9:85618116..85621045-chr9:85621802..85624591,3	MCF-7	breast:
14	chr9:85619463..85621402-chr9:85626088..85628025,2	MCF-7	breast:
15	chr9:85599370..85601315-chr9:85604604..85608125,3	MCF-7	breast:
16	chr8:43091431..43093289-chr9:85469654..85471154,2	MCF-7	breast:
17	chr9:85454041..85456020-chr9:85457899..85460136,2	K562	blood:
18	chr9:85554615..85558386-chr9:85560270..85563737,3	MCF-7	breast:
19	chr9:85512709..85515547-chr9:85518031..85520815,2	MCF-7	breast:
20	chr9:85642474..85644010-chr9:85654073..85656615,2	MCF-7	breast:
21	chr9:85594172..85597684-chr9:85598731..85602466,4	MCF-7	breast:
22	chr9:85568255..85570066-chr9:85581948..85584043,2	MCF-7	breast:
23	chr9:85164234..85164820-chr9:85419993..85420594,2	MCF-7	breast:
24	chr9:85552710..85555022-chr9:85561704..85563233,2	MCF-7	breast:
25	chr9:85507570..85509161-chr9:85511502..85514277,2	MCF-7	breast:
26	chr9:85538264..85539871-chr9:85552223..85554037,2	MCF-7	breast:
27	chr9:85147389..85148014-chr9:85419975..85420619,2	MCF-7	breast:
28	chr9:85567518..85569787-chr9:85676279..85677863,2	MCF-7	breast:
29	chr9:85516785..85519308-chr9:85524769..85526331,2	MCF-7	breast:
30	chr9:85576889..85578996-chr9:85579961..85582135,2	MCF-7	breast:
31	chr9:85599966..85602793-chr9:85606688..85608759,2	MCF-7	breast:
32	chr9:85516785..85519308-chr9:85524769..85526331,2	MCF-7	breast:
33	chr9:85629458..85632047-chr9:85635209..85636711,2	MCF-7	breast:
34	chr9:85512709..85515547-chr9:85518031..85520815,2	MCF-7	breast:
35	chr9:85536750..85538590-chr9:85548632..85551297,2	MCF-7	breast:
36	chr9:85613900..85615661-chr9:85617550..85619419,2	MCF-7	breast:
37	chr9:85574172..85576527-chr9:85577634..85580160,2	MCF-7	breast:
38	chr9:85548526..85551837-chr9:85553458..85557427,3	MCF-7	breast:
39	chr9:85538264..85539871-chr9:85552223..85554037,2	MCF-7	breast:
40	chr9:85619463..85621402-chr9:85626088..85628025,2	MCF-7	breast:
41	chr3:64087436..64088388-chr9:85557807..85558540,2	MCF-7	breast:
42	chr9:85538911..85540450-chr9:85676570..85678420,2	MCF-7	breast:
43	chr9:85623982..85626192-chr9:85627915..85630336,2	MCF-7	breast:
44	chr9:85581930..85584900-chr9:85675416..85678378,2	MCF-7	breast:
45	chr9:85420090..85420656-chr9:85576435..85577075,2	MCF-7	breast:
46	chr9:84302872..84304980-chr9:85574723..85576676,2	MCF-7	breast:
47	chr9:85594172..85597684-chr9:85598731..85602466,4	MCF-7	breast:
48	chr9:85378321..85379186-chr9:85419647..85420426,2	MCF-7	breast:
49	chr9:85624001..85625732-chr9:85627362..85629069,2	MCF-7	breast:
50	chr9:85490426..85492320-chr9:85494921..85497379,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf103-7	chr9:85634340-85642318	predAs_engstrom06_AI205792_1
2	lnc-RASEF-1	chr9:85441604-85441845	NONHSAT132728
3	lnc-C9orf103-8	chr9:85436266-85436376	NONHSAT132727
4	lnc-C9orf103-8	chr9:85436904-85439776	NONHSAT132727
5	lnc-FRMD3-5	chr9:85594505-85597351	NONHSAT132729
6	lnc-RASEF-1	chr9:85443406-85443493	NONHSAT132728

No data

Variant related genes	Relation type
ENSG00000233926	chromatin interactions
ENSG00000139725	chromatin interactions
ENSG00000196781	chromatin interactions
ENSG00000165105	chromatin interactions

Extended variants
information (count: 8108 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:8108 , 50 per page) page: 1 2 3 4 5 6 7 ... 163

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565433392	chr9:85416974-85416975	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532119221	chr9:85416983-85416984	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550641909	chr9:85416985-85416986	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562392405	chr9:85416993-85416994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529670084	chr9:85416996-85416997	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368147925	chr9:85417005-85417006	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548113852	chr9:85417027-85417028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371569337	chr9:85417034-85417035	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533789696	chr9:85417037-85417038	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551961652	chr9:85417061-85417062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568254309	chr9:85417073-85417074	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569000516	chr9:85417163-85417164	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538800943	chr9:85417185-85417186	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557403404	chr9:85417196-85417197	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1005796	chr9:85417267-85417268	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs73648497	chr9:85417278-85417279	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs184215900	chr9:85417291-85417292	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573583333	chr9:85417336-85417337	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146599732	chr9:85417374-85417375	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189588863	chr9:85417377-85417378	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558928962	chr9:85417381-85417382	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577366581	chr9:85417609-85417610	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs12337057	chr9:85417622-85417623	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs372825705	chr9:85417629-85417630	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs11139794	chr9:85417663-85417664	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs116146556	chr9:85417669-85417670	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs559678795	chr9:85417677-85417678	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs181899729	chr9:85417678-85417679	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565428761	chr9:85417788-85417789	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs376237589	chr9:85417814-85417815	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552049449	chr9:85417885-85417886	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs147730058	chr9:85417898-85417899	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs374366168	chr9:85417926-85417927	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs531514661	chr9:85417933-85417934	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs34099987	chr9:85417940-85417941	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs71361146	chr9:85417951-85417952	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs75315587	chr9:85417952-85417953	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs61213791	chr9:85417958-85417959	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs574223156	chr9:85417959-85417960	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs545884833	chr9:85417963-85417964	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs546875230	chr9:85417964-85417965	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs71361147	chr9:85417978-85417979	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs75152212	chr9:85417979-85417980	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs397943555	chr9:85417980-85417981	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs184712881	chr9:85418017-85418018	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs536700751	chr9:85418023-85418024	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs10491547	chr9:85418046-85418047	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566865005	chr9:85418076-85418077	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs534546310	chr9:85418136-85418137	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559182811	chr9:85418276-85418277	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
XY gonadal dysgenesis	20685758	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85395400-85424800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:85404600-85420400	Weak transcription	Gastric	stomach
3	chr9:85404600-85422200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:85404600-85422200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:85413600-85418400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:85416200-85417400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:85416400-85422400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr9:85417200-85417600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:85417400-85417800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr9:85417400-85418000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:85417400-85419600	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
12	chr9:85417600-85418400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr9:85417800-85418200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:85418200-85418600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr9:85418400-85418600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:85418400-85419200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr9:85418400-85422800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:85418600-85422600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr9:85418600-85422800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:85419200-85420400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
21	chr9:85419600-85422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:85420400-85422400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr9:85421800-85423000	Enhancers	Dnd41	blood
24	chr9:85422200-85423200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:85422200-85424000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr9:85422200-85427200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:85422400-85423800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:85422400-85424200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr9:85422400-85425200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr9:85422400-85426800	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:85422600-85423600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:85422600-85423600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr9:85422600-85423800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr9:85422800-85423600	Enhancers	H1 Cell Line	embryonic stem cell
35	chr9:85422800-85423600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:85422800-85423600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:85422800-85423600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:85423200-85423600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr9:85423400-85423600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:85423400-85423800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr9:85423400-85423800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr9:85423600-85425800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr9:85423600-85426600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr9:85423600-85428800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:85423600-85439400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:85423800-85424800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr9:85423800-85443200	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr9:85424000-85424400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr9:85424400-85425000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr9:85424800-85425400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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