Variant report

Variant	nsv1027192
Chromosome Location	chr9:7322520-7358893
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:3)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
2	chr6:13710981..13713246-chr9:7352673..7355016,2	MCF-7	breast:
3	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:

(count:7 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000010017	chromatin interactions

Extended variants
information (count: 1399 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1399 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577369494	chr9:7322526-7322527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538281239	chr9:7322534-7322535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139447594	chr9:7322537-7322538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575476782	chr9:7322558-7322559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542891469	chr9:7322580-7322581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560990515	chr9:7322589-7322590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568007998	chr9:7322598-7322599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572705019	chr9:7322613-7322614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536956156	chr9:7322644-7322645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539998770	chr9:7322684-7322685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs373503910	chr9:7322710-7322711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375870354	chr9:7322723-7322724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564680430	chr9:7322744-7322745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532076947	chr9:7322745-7322746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550334877	chr9:7322747-7322748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144321983	chr9:7322750-7322751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529625993	chr9:7322764-7322765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76417376	chr9:7322792-7322793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147786776	chr9:7322839-7322840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138402449	chr9:7322889-7322890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs534398832	chr9:7322897-7322898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552793058	chr9:7322912-7322913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200757013	chr9:7322954-7322955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11793957	chr9:7322967-7322968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs184943325	chr9:7322975-7322976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200877698	chr9:7322992-7322993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371606226	chr9:7322996-7322997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74993498	chr9:7323013-7323014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188379314	chr9:7323087-7323088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574792049	chr9:7323095-7323096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191287667	chr9:7323109-7323110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17601242	chr9:7323130-7323131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs563343846	chr9:7323133-7323134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572793412	chr9:7323168-7323169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540082964	chr9:7323264-7323265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183773588	chr9:7323297-7323298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576563059	chr9:7323327-7323328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558659400	chr9:7323334-7323335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139667488	chr9:7323343-7323344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562412379	chr9:7323345-7323346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575324550	chr9:7323346-7323347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145268148	chr9:7323385-7323386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144995169	chr9:7323403-7323404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560808908	chr9:7323408-7323409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188107845	chr9:7323507-7323508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374406071	chr9:7323516-7323517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537893502	chr9:7323521-7323522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182546091	chr9:7323618-7323619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371571924	chr9:7323631-7323632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531779019	chr9:7323643-7323644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7320200-7324000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:7321000-7324000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:7321200-7324000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:7321200-7324000	Weak transcription	NHDF-Ad	bronchial
5	chr9:7321200-7324200	Weak transcription	HSMM	muscle
6	chr9:7321200-7328000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr9:7321400-7324000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:7321400-7324200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:7321800-7324000	Weak transcription	HSMMtube	muscle
10	chr9:7324000-7324200	Enhancers	HSMMtube	muscle
11	chr9:7324000-7324600	Enhancers	A549	lung
12	chr9:7324000-7324600	Enhancers	NHDF-Ad	bronchial
13	chr9:7324000-7324800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:7324000-7324800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:7324000-7324800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:7324000-7324800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:7324200-7324800	Enhancers	HSMM	muscle
18	chr9:7324400-7324600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr9:7324400-7324600	Enhancers	NHLF	lung
20	chr9:7328000-7328600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:7328400-7328600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:7328600-7342200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr9:7332200-7332400	Enhancers	Fetal Lung	lung
24	chr9:7333400-7334000	Enhancers	Fetal Heart	heart
25	chr9:7336400-7337400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:7336400-7337800	Enhancers	Placenta	Placenta
27	chr9:7336600-7337400	Enhancers	Fetal Lung	lung
28	chr9:7336800-7337400	Enhancers	Fetal Stomach	stomach
29	chr9:7336800-7337600	Enhancers	Fetal Brain Male	brain
30	chr9:7336800-7337800	Enhancers	Fetal Muscle Leg	muscle
31	chr9:7337000-7337400	Enhancers	Fetal Kidney	kidney
32	chr9:7337400-7338600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:7337400-7341800	Weak transcription	Fetal Lung	lung
34	chr9:7337400-7342200	Weak transcription	Fetal Kidney	kidney
35	chr9:7337400-7342600	Weak transcription	Fetal Stomach	stomach
36	chr9:7337600-7342400	Weak transcription	Fetal Brain Male	brain
37	chr9:7337800-7342200	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:7337800-7342800	Weak transcription	Placenta	Placenta
39	chr9:7338600-7339000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr9:7339000-7342800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr9:7339800-7340000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr9:7340000-7341000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr9:7341000-7341200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:7341000-7341200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:7341000-7341200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:7341000-7343000	Enhancers	GM12878-XiMat	blood
47	chr9:7341200-7344800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:7341600-7342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:7341800-7342400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr9:7341800-7343000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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