Variant report

Variant	nsv1018972
Chromosome Location	chr9:10365083-10504217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:10365979..10366914-chr9:12329143..12329893,2	MCF-7	breast:
2	chr2:145089819..145090468-chr9:10441934..10442434,2	NB4	blood:
3	chr9:10455080..10457059-chr9:10458329..10460552,2	MCF-7	breast:
4	chr9:10366359..10367238-chr9:11319480..11320059,2	MCF-7	breast:
5	chr9:10455080..10457059-chr9:10458329..10460552,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121964	chromatin interactions

Extended variants
information (count: 1881 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:1881 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199856308	chr9:10365111-10365112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148151111	chr9:10365145-10365146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539035957	chr9:10365157-10365158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555772515	chr9:10365174-10365175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142968207	chr9:10365200-10365201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535765268	chr9:10365206-10365207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572058279	chr9:10365221-10365222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555239872	chr9:10365239-10365240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572217172	chr9:10365257-10365258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534764494	chr9:10365263-10365264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373651359	chr9:10365295-10365296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558280871	chr9:10365328-10365329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144634036	chr9:10365361-10365362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557323954	chr9:10365391-10365392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563702725	chr9:10365424-10365425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574216574	chr9:10365440-10365441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368389690	chr9:10365457-10365458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543314296	chr9:10365476-10365477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559641785	chr9:10365478-10365479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556249463	chr9:10365507-10365508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs138606372	chr9:10365529-10365530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76726793	chr9:10365535-10365536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563821412	chr9:10365544-10365545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532889464	chr9:10365549-10365550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141497134	chr9:10365567-10365568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114481195	chr9:10365569-10365570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368956747	chr9:10365570-10365571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535350585	chr9:10365580-10365581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115614015	chr9:10365590-10365591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565884322	chr9:10365592-10365593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534801480	chr9:10365594-10365595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146193495	chr9:10365629-10365630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs16925876	chr9:10365636-10365637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537564460	chr9:10365649-10365650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138074234	chr9:10365656-10365657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185101952	chr9:10365668-10365669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542701761	chr9:10365700-10365701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73402270	chr9:10365708-10365709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs573491522	chr9:10365716-10365717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188252515	chr9:10365748-10365749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149548029	chr9:10365767-10365768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549477378	chr9:10365824-10365825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563092462	chr9:10365845-10365846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528880091	chr9:10365864-10365865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548745022	chr9:10365865-10365866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12376859	chr9:10365870-10365871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534944559	chr9:10365933-10365934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528144239	chr9:10365950-10365951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148653110	chr9:10365960-10365961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180717605	chr9:10366029-10366030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Barrett''s syndrome	19417022	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10364800-10365200	Enhancers	Brain Germinal Matrix	brain
2	chr9:10365200-10369600	Weak transcription	Brain Germinal Matrix	brain
3	chr9:10366000-10366400	Enhancers	Fetal Brain Male	brain
4	chr9:10369600-10370200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:10369600-10370200	Enhancers	Brain Germinal Matrix	brain
6	chr9:10370200-10371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:10371200-10371400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:10371400-10372000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr9:10371400-10372600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr9:10371600-10372000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:10371600-10372200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr9:10371600-10372600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr9:10371600-10372600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr9:10371800-10372600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:10371800-10372600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:10371800-10372600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:10371800-10372600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr9:10371800-10372800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr9:10372000-10372800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:10372200-10372600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr9:10372200-10372600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr9:10373600-10374000	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr9:10376000-10376200	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr9:10384800-10385200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr9:10385000-10385200	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:10385200-10387200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr9:10387200-10387600	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:10387200-10387600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:10387200-10387800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr9:10387200-10387800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:10387400-10387800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:10387800-10395800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr9:10395800-10396000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:10395800-10396200	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr9:10396000-10397200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:10396600-10397000	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr9:10397200-10397400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:10397200-10398000	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr9:10398800-10399200	Enhancers	Fetal Heart	heart
40	chr9:10434000-10434600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr9:10434000-10434800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr9:10434000-10435400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr9:10434000-10435400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr9:10434200-10435400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr9:10434200-10435400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr9:10434200-10436000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:10434400-10434800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr9:10434600-10435000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:10434600-10435200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr9:10434800-10435000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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