Variant report

Variant	nsv892682
Chromosome Location	chr9:18166112-18272700
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:18149518..18150319-chr9:18207841..18208492,3	MCF-7	breast:
2	chr9:18255104..18255666-chr9:18823787..18824360,2	MCF-7	breast:
3	chr9:18016854..18017748-chr9:18207853..18208432,2	MCF-7	breast:
4	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
5	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:
6	chr9:17531412..17532247-chr9:18212958..18213842,2	MCF-7	breast:
7	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:
8	chr9:18254775..18255482-chr9:18823832..18824683,3	MCF-7	breast:
9	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:
10	chr9:18254620..18255832-chr9:18825877..18827696,5	MCF-7	breast:
11	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
12	chr9:18255224..18255738-chr9:19028566..19029077,2	K562	blood:
13	chr9:18254805..18255425-chr9:18442379..18443060,2	MCF-7	breast:
14	chr9:18189998..18192028-chr9:18194754..18196298,2	MCF-7	breast:
15	chr9:18254973..18255762-chr9:19028514..19029097,2	MCF-7	breast:
16	chr9:17528534..17529118-chr9:18207797..18208372,2	MCF-7	breast:
17	chr9:18254776..18255758-chr9:18790832..18791755,3	MCF-7	breast:
18	chr9:18211031..18213386-chr9:18220463..18223215,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000178031	chromatin interactions

Extended variants
information (count: 3651 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:3651 , 50 per page) page: 1 2 3 4 5 6 7 ... 74

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs960232	chr9:18166112-18166113	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs75827719	chr9:18166148-18166149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558849121	chr9:18166159-18166160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187310355	chr9:18166167-18166168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11794779	chr9:18166170-18166171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs141898951	chr9:18166202-18166203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542190070	chr9:18166214-18166215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560528943	chr9:18166215-18166216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146239661	chr9:18166242-18166243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550041980	chr9:18166244-18166245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139262775	chr9:18166246-18166247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs35512056	chr9:18166263-18166264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144098288	chr9:18166285-18166286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566928823	chr9:18166309-18166310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191937420	chr9:18166311-18166312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557151621	chr9:18166322-18166323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184351880	chr9:18166362-18166363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73424930	chr9:18166376-18166377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538289614	chr9:18166380-18166381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556770790	chr9:18166387-18166388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs578194207	chr9:18166450-18166451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189171979	chr9:18166497-18166498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535283368	chr9:18166498-18166499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564328507	chr9:18166506-18166507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371557086	chr9:18166543-18166544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572335540	chr9:18166593-18166594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150949903	chr9:18166596-18166597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11790830	chr9:18166610-18166611	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs575582860	chr9:18166620-18166621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543059354	chr9:18166624-18166625	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182564206	chr9:18166634-18166635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532324773	chr9:18166652-18166653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10963485	chr9:18166674-18166675	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542198044	chr9:18166705-18166706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139522668	chr9:18166731-18166732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200132090	chr9:18166737-18166738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10756943	chr9:18166755-18166756	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs34495468	chr9:18166776-18166777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184339588	chr9:18166814-18166815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576030786	chr9:18166821-18166822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538200411	chr9:18166839-18166840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189580598	chr9:18166859-18166860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149662865	chr9:18166872-18166873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145476519	chr9:18166879-18166880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs12006002	chr9:18166899-18166900	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs528008340	chr9:18166921-18166922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10963486	chr9:18166934-18166935	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559676494	chr9:18166942-18166943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10756944	chr9:18166943-18166944	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs575745112	chr9:18166988-18166989	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
early-passage human iPS cells	21368824	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18160400-18166800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:18166600-18167400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr9:18182400-18185400	Enhancers	Fetal Intestine Large	intestine
4	chr9:18182400-18185600	Enhancers	Fetal Intestine Small	intestine
5	chr9:18182400-18185600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:18182600-18183000	Active TSS	Duodenum Mucosa	Duodenum
7	chr9:18182600-18183400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr9:18182600-18185400	Enhancers	Fetal Heart	heart
9	chr9:18183000-18183200	Enhancers	Aorta	Aorta
10	chr9:18183000-18183200	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr9:18183000-18183200	Enhancers	Small Intestine	intestine
12	chr9:18183000-18183200	Enhancers	Stomach Mucosa	stomach
13	chr9:18183200-18184200	Weak transcription	Stomach Mucosa	stomach
14	chr9:18183200-18185600	Enhancers	Duodenum Mucosa	Duodenum
15	chr9:18183200-18190800	Weak transcription	Aorta	Aorta
16	chr9:18183400-18184400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr9:18184000-18184800	Enhancers	Fetal Lung	lung
18	chr9:18184200-18184400	Enhancers	Fetal Muscle Leg	muscle
19	chr9:18184200-18185600	Enhancers	Stomach Mucosa	stomach
20	chr9:18184400-18185200	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr9:18184400-18188800	Weak transcription	Fetal Muscle Leg	muscle
22	chr9:18184600-18185000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr9:18184600-18185400	Enhancers	Hela-S3	cervix
24	chr9:18184800-18185400	Enhancers	Small Intestine	intestine
25	chr9:18184800-18186200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:18184800-18190200	Weak transcription	Fetal Lung	lung
27	chr9:18185400-18189600	Weak transcription	Fetal Heart	heart
28	chr9:18185400-18189800	Weak transcription	Hela-S3	cervix
29	chr9:18187000-18187200	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr9:18188400-18188600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr9:18188600-18189800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:18188800-18189200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:18188800-18189200	Enhancers	Fetal Muscle Leg	muscle
34	chr9:18189000-18189200	Enhancers	Pancreas	Pancrea
35	chr9:18189200-18190800	Weak transcription	Fetal Muscle Leg	muscle
36	chr9:18189600-18190200	Enhancers	Stomach Smooth Muscle	stomach
37	chr9:18189600-18190800	Weak transcription	Pancreas	Pancrea
38	chr9:18189600-18191200	Enhancers	Fetal Heart	heart
39	chr9:18189800-18190000	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr9:18189800-18190200	Enhancers	Adipose Nuclei	Adipose
41	chr9:18189800-18190200	Enhancers	Fetal Stomach	stomach
42	chr9:18189800-18190200	Enhancers	Hela-S3	cervix
43	chr9:18189800-18190400	Enhancers	Brain Germinal Matrix	brain
44	chr9:18189800-18191600	Enhancers	Liver	Liver
45	chr9:18190200-18190600	Enhancers	Brain Substantia Nigra	brain
46	chr9:18190200-18190600	Enhancers	Fetal Lung	lung
47	chr9:18190400-18190800	Enhancers	Brain Anterior Caudate	brain
48	chr9:18190400-18190800	Weak transcription	Brain Germinal Matrix	brain
49	chr9:18190800-18191200	Enhancers	Brain Germinal Matrix	brain
50	chr9:18190800-18191600	Enhancers	Aorta	Aorta

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