Variant report

Variant	nsv1019226
Chromosome Location	chr9:7299548-7415463
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:10)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
2	chr9:7401862..7402674-chr9:7479089..7479897,2	MCF-7	breast:
3	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
4	chr6:13710981..13713246-chr9:7352673..7355016,2	MCF-7	breast:
5	chr9:7401751..7402674-chr9:7535710..7536817,3	MCF-7	breast:
6	chr9:7374746..7376747-chr9:7378885..7381827,2	K562	blood:
7	chr9:7374746..7376747-chr9:7378885..7381827,2	K562	blood:
8	chr9:7382644..7384373-chr9:7388000..7390861,2	K562	blood:
9	chr9:7382644..7384373-chr9:7388000..7390861,2	K562	blood:
10	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	chr9:7343265-7343465	XLOC_007278
2	lnc-KDM4C-6	chr9:7304600-7304683	XLOC_007278
3	lnc-C9orf123-5	chr9:7344597-7345051	XLOC_007640
4	lnc-C9orf123-9	chr9:7335540-7335590	l_3732_chr9:7334596-7336064_thyroid
5	lnc-KDM4C-6	chr9:7327926-7328132	XLOC_007278
6	lnc-C9orf123-5	chr9:7345540-7345605	XLOC_007640
7	lnc-C9orf123-9	chr9:7335933-7336064	l_3732_chr9:7334596-7336064_thyroid
8	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: 5481 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:5481 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10739128	chr9:7299553-7299554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182556970	chr9:7299592-7299593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10976195	chr9:7299599-7299600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs149962913	chr9:7299638-7299639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573889185	chr9:7299639-7299640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10815586	chr9:7299646-7299647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs559549046	chr9:7299652-7299653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146506642	chr9:7299710-7299711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551538357	chr9:7299728-7299729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187128593	chr9:7299745-7299746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs140520455	chr9:7299858-7299859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191991532	chr9:7299888-7299889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs567222485	chr9:7299914-7299915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535372962	chr9:7299950-7299951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546967798	chr9:7299966-7299967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12353012	chr9:7299967-7299968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544872151	chr9:7299972-7299973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7041772	chr9:7299991-7299992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557103547	chr9:7299994-7299995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74986992	chr9:7300005-7300006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111310610	chr9:7300020-7300021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564812915	chr9:7300021-7300022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181492751	chr9:7300023-7300024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146544388	chr9:7300029-7300030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541359833	chr9:7300035-7300036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116231770	chr9:7300039-7300040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs577797891	chr9:7300048-7300049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149174358	chr9:7300068-7300069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs371951327	chr9:7300089-7300090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530622596	chr9:7300122-7300123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185741308	chr9:7300170-7300171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560976000	chr9:7300190-7300191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528059602	chr9:7300222-7300223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375294918	chr9:7300234-7300235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547298486	chr9:7300281-7300282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs369587838	chr9:7300282-7300283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373061366	chr9:7300292-7300293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs571868615	chr9:7300313-7300314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532807280	chr9:7300323-7300324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550773485	chr9:7300327-7300328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569063226	chr9:7300433-7300434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143279239	chr9:7300450-7300451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10976196	chr9:7300488-7300489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs566894845	chr9:7300501-7300502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533920913	chr9:7300523-7300524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113452341	chr9:7300539-7300540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190062385	chr9:7300563-7300564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577866539	chr9:7300564-7300565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56273359	chr9:7300572-7300573	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148357019	chr9:7300617-7300618	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:517 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7285200-7301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:7299000-7300200	Weak transcription	GM12878-XiMat	blood
3	chr9:7300200-7300400	Enhancers	GM12878-XiMat	blood
4	chr9:7303800-7304400	Enhancers	Brain Cingulate Gyrus	brain
5	chr9:7304000-7304800	Enhancers	Brain Anterior Caudate	brain
6	chr9:7304000-7304800	Bivalent Enhancer	GM12878-XiMat	blood
7	chr9:7304200-7304400	Enhancers	Brain Angular Gyrus	brain
8	chr9:7304200-7304400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
9	chr9:7304400-7304600	Active TSS	Brain Substantia Nigra	brain
10	chr9:7304400-7304800	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr9:7304400-7304800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr9:7304400-7304800	Active TSS	Brain Hippocampus Middle	brain
13	chr9:7304400-7304800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr9:7304600-7304800	Flanking Active TSS	Brain Substantia Nigra	brain
15	chr9:7304800-7305200	Enhancers	Brain Substantia Nigra	brain
16	chr9:7304800-7305800	Enhancers	Brain Cingulate Gyrus	brain
17	chr9:7305600-7305800	Enhancers	Brain Hippocampus Middle	brain
18	chr9:7305600-7306200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr9:7306200-7306400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:7306400-7306600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:7306600-7306800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:7306800-7307400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr9:7307400-7311400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:7310400-7310600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:7312400-7312800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:7314400-7314600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:7314600-7315200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr9:7314600-7315600	Enhancers	Placenta	Placenta
29	chr9:7314600-7317000	Enhancers	Fetal Muscle Leg	muscle
30	chr9:7314800-7317000	Enhancers	Fetal Stomach	stomach
31	chr9:7315000-7315400	Enhancers	Right Ventricle	heart
32	chr9:7315000-7315600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:7315000-7315600	Enhancers	Fetal Muscle Trunk	muscle
34	chr9:7315000-7315600	ZNF genes & repeats	Pancreas	Pancrea
35	chr9:7315000-7317400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr9:7315000-7317600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:7315200-7315400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr9:7315200-7315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:7315200-7316400	Enhancers	HSMM	muscle
40	chr9:7315200-7316800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr9:7315200-7316800	Enhancers	Fetal Heart	heart
42	chr9:7315200-7316800	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr9:7315200-7317400	Enhancers	NHDF-Ad	bronchial
44	chr9:7315400-7315600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:7315400-7316800	Enhancers	Aorta	Aorta
46	chr9:7315400-7316800	Enhancers	Osteobl	bone
47	chr9:7315400-7317400	Enhancers	HSMMtube	muscle
48	chr9:7315600-7315800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:7315600-7316000	Weak transcription	Pancreas	Pancrea
50	chr9:7315600-7316600	Weak transcription	Placenta	Placenta

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