Variant report

Variant	nsv539974
Chromosome Location	chr9:7273687-7370297
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:5)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13710981..13713246-chr9:7352673..7355016,2	MCF-7	breast:
2	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
3	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
4	chr13:72439560..72440061-chr9:7288393..7288893,2	NB4	blood:
5	chr9:7052698..7053251-chr9:7360197..7360994,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-6	chr9:7327926-7328132	XLOC_007278
2	lnc-C9orf123-5	chr9:7345540-7345605	XLOC_007640
3	lnc-C9orf123-9	chr9:7335540-7335590	l_3732_chr9:7334596-7336064_thyroid
4	lnc-C9orf123-9	chr9:7335933-7336064	l_3732_chr9:7334596-7336064_thyroid
5	lnc-KDM4C-6	chr9:7343265-7343465	XLOC_007278
6	lnc-C9orf123-9	chr9:7334597-7335051	l_3732_chr9:7334596-7336064_thyroid
7	lnc-C9orf123-5	chr9:7344597-7345051	XLOC_007640
8	lnc-KDM4C-6	chr9:7304600-7304683	XLOC_007278

No data

Variant related genes	Relation type
ENSG00000010017	chromatin interactions

Extended variants
information (count: 4099 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:4099 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368368586	chr9:7273758-7273759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139049795	chr9:7273781-7273782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149868083	chr9:7273790-7273791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187164824	chr9:7273792-7273793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7863355	chr9:7273796-7273797	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1928202	chr9:7273813-7273814	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs112405436	chr9:7273831-7273832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1928203	chr9:7273837-7273838	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs531479746	chr9:7273846-7273847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532754089	chr9:7273862-7273863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374824363	chr9:7273867-7273868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs16925718	chr9:7273868-7273869	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs190600668	chr9:7273878-7273879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568104857	chr9:7273883-7273884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536729477	chr9:7273888-7273889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58007053	chr9:7273900-7273901	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs2820943	chr9:7273907-7273908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61081634	chr9:7273925-7273926	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs1928204	chr9:7273928-7273929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs10815578	chr9:7273950-7273951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs72707318	chr9:7273985-7273986	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs573790790	chr9:7273992-7273993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539738354	chr9:7274012-7274013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557102697	chr9:7274033-7274034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575271792	chr9:7274051-7274052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147590089	chr9:7274069-7274070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2820942	chr9:7274070-7274071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs142112651	chr9:7274096-7274097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540186598	chr9:7274102-7274103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187092445	chr9:7274110-7274111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377510714	chr9:7274132-7274133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs144227767	chr9:7274166-7274167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370010187	chr9:7274184-7274185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189948919	chr9:7274217-7274218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77375803	chr9:7274223-7274224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs115409752	chr9:7274255-7274256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12683086	chr9:7274258-7274259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566806522	chr9:7274262-7274263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs377445804	chr9:7274266-7274267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144295657	chr9:7274276-7274277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555596755	chr9:7274294-7274295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552143129	chr9:7274318-7274319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571242557	chr9:7274326-7274327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147832378	chr9:7274359-7274360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs538522366	chr9:7274365-7274366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73639883	chr9:7274387-7274388	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs369131422	chr9:7274396-7274397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148870296	chr9:7274426-7274427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554648764	chr9:7274427-7274428	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs143614461	chr9:7274468-7274469	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:416 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7269600-7274000	Weak transcription	Fetal Kidney	kidney
2	chr9:7271800-7273800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr9:7273600-7274200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr9:7273800-7274000	Enhancers	Brain Cingulate Gyrus	brain
5	chr9:7273800-7274200	Enhancers	Brain Anterior Caudate	brain
6	chr9:7273800-7275000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:7273800-7275600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:7274000-7274600	Enhancers	Fetal Kidney	kidney
9	chr9:7274600-7276000	Weak transcription	Fetal Kidney	kidney
10	chr9:7275600-7276200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:7276000-7276400	Enhancers	Fetal Lung	lung
12	chr9:7276200-7276400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:7276200-7276400	Enhancers	Fetal Kidney	kidney
14	chr9:7276400-7276600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:7283000-7283600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:7283400-7284000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:7283600-7283800	Enhancers	H1 Cell Line	embryonic stem cell
18	chr9:7283600-7283800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:7283800-7284400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:7283800-7285000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr9:7283800-7285200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:7284000-7284400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:7284000-7285200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr9:7284000-7285200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:7284000-7285400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr9:7284000-7285600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:7284200-7285600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr9:7284400-7284800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr9:7284400-7284800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:7284400-7285200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:7284400-7285200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:7284400-7285400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr9:7284600-7285200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr9:7284800-7288600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:7285000-7285200	Enhancers	H9 Cell Line	embryonic stem cell
36	chr9:7285000-7285400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr9:7285000-7285400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:7285200-7286600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:7285200-7287000	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr9:7285200-7287000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:7285200-7287000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr9:7285200-7301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:7285400-7287000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:7285400-7287200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr9:7285400-7289800	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr9:7285600-7286800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:7285600-7289200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:7286600-7288400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:7286600-7288400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr9:7286800-7287600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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