Variant report

Variant	nsv1028133
Chromosome Location	chr9:8015209-8116186
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:8106136..8108592-chr9:8119218..8121466,2	K562	blood:
2	chr11:107727967..107730044-chr9:8019737..8022718,2	MCF-7	breast:
3	chr11:107728772..107729298-chr9:8021237..8021737,2	HCT-116	colon:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf123-8	chr9:8085728-8085987	uc_249_-
2	lnc-KDM4C-16	chr9:8085728-8085987	uc_249_+

Variant related genes	Relation type
ENSG00000110660	chromatin interactions

Extended variants
information (count: 1659 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1659 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10514820	chr9:8015209-8015210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192782346	chr9:8015211-8015212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376607422	chr9:8015224-8015225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549457553	chr9:8015246-8015247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567838359	chr9:8015258-8015259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556382534	chr9:8015264-8015265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534938883	chr9:8015268-8015269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374070661	chr9:8015275-8015276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553006151	chr9:8015335-8015336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs386732288	chr9:8015366-8015367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4742432	chr9:8015368-8015369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs538207900	chr9:8015372-8015373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs556542334	chr9:8015428-8015429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10815740	chr9:8015470-8015471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542899895	chr9:8015562-8015563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141674358	chr9:8015578-8015579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9408724	chr9:8015596-8015597	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs150573371	chr9:8015630-8015631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184867800	chr9:8015656-8015657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117346567	chr9:8015701-8015702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545372249	chr9:8015706-8015707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563670121	chr9:8015735-8015736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545884665	chr9:8015767-8015768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530967749	chr9:8015782-8015783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549636050	chr9:8015785-8015786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534064349	chr9:8015789-8015790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs76900284	chr9:8015834-8015835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528652041	chr9:8015853-8015854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546888095	chr9:8015934-8015935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545195586	chr9:8015991-8015992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189182315	chr9:8016001-8016002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531891491	chr9:8016063-8016064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116122153	chr9:8016069-8016070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10976726	chr9:8016079-8016080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568500038	chr9:8016104-8016105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368300527	chr9:8016201-8016202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112016618	chr9:8016214-8016215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554818422	chr9:8016234-8016235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113414080	chr9:8016268-8016269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187232396	chr9:8016287-8016288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558785544	chr9:8016290-8016291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77132552	chr9:8016291-8016292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545509126	chr9:8016292-8016293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551415915	chr9:8016324-8016325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs80216864	chr9:8016328-8016329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540358097	chr9:8016333-8016334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139568147	chr9:8016461-8016462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76191041	chr9:8016469-8016470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561587640	chr9:8016471-8016472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112418748	chr9:8016481-8016482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:8012400-8021400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:8014400-8015400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr9:8015400-8015800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr9:8015400-8016000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr9:8015600-8016000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:8020000-8020600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:8020200-8020600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:8022800-8027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:8025000-8025200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:8025200-8032600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr9:8025800-8026400	Enhancers	NH-A	brain
12	chr9:8026200-8026400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:8026200-8026400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr9:8026400-8027400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:8026400-8028800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr9:8026800-8028000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:8027000-8028000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr9:8027200-8028000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:8027200-8028000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr9:8027200-8028200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr9:8027200-8028400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:8027400-8028000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:8027400-8028000	Enhancers	Brain Hippocampus Middle	brain
24	chr9:8027400-8028200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:8027400-8028400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr9:8027600-8028000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:8027800-8028200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr9:8028000-8028400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:8028200-8033800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:8028800-8029000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr9:8029000-8030800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr9:8030200-8030400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:8030200-8030400	Enhancers	Fetal Heart	heart
34	chr9:8030400-8032200	Weak transcription	Fetal Heart	heart
35	chr9:8030800-8033800	Enhancers	Placenta Amnion	Placenta Amnion
36	chr9:8032200-8032800	Enhancers	Fetal Heart	heart
37	chr9:8032600-8033200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr9:8033800-8034200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:8053000-8053400	Enhancers	Spleen	Spleen
40	chr9:8053200-8053400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr9:8053200-8053800	Enhancers	Esophagus	oesophagus
42	chr9:8056600-8057400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr9:8062600-8063000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:8062600-8063000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:8062600-8063000	ZNF genes & repeats	Pancreas	Pancrea
46	chr9:8065200-8065600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr9:8065400-8065800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:8065400-8065800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr9:8065400-8065800	Active TSS	Stomach Smooth Muscle	stomach
50	chr9:8065400-8065800	Active TSS	A549	lung

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