Variant report

Variant	nsv428534
Chromosome Location	chr9:7312939-7403231
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:7)
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	chr9:7382644..7384373-chr9:7388000..7390861,2	K562	blood:
2	chr9:7382644..7384373-chr9:7388000..7390861,2	K562	blood:
3	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
4	chr9:7401751..7402674-chr9:7535710..7536817,3	MCF-7	breast:
5	chr9:7052698..7053251-chr9:7360197..7360994,2	K562	blood:
6	chr6:13710981..13713246-chr9:7352673..7355016,2	MCF-7	breast:
7	chr9:7374746..7376747-chr9:7378885..7381827,2	K562	blood:
8	chr9:7321841..7323561-chr9:7326191..7328579,2	K562	blood:
9	chr9:7374746..7376747-chr9:7378885..7381827,2	K562	blood:
10	chr9:7401862..7402674-chr9:7479089..7479897,2	MCF-7	breast:

(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-C9orf123-5	chr9:7344597-7345051	XLOC_007640
3	lnc-C9orf123-9	chr9:7334597-7335051	l_3732_chr9:7334596-7336064_thyroid
4	lnc-C9orf123-9	chr9:7335933-7336064	l_3732_chr9:7334596-7336064_thyroid
5	lnc-C9orf123-9	chr9:7335540-7335590	l_3732_chr9:7334596-7336064_thyroid
6	lnc-KDM4C-6	chr9:7343265-7343465	XLOC_007278
7	lnc-KDM4C-6	chr9:7327926-7328132	XLOC_007278

No data

Variant related genes	Relation type
ENSG00000010017	chromatin interactions

Extended variants
information (count: 4241 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:4241 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542252074	chr9:7314409-7314410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560487660	chr9:7314438-7314439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187217556	chr9:7314456-7314457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528417200	chr9:7314458-7314459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs62531053	chr9:7314459-7314460	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs374174956	chr9:7314473-7314474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537137641	chr9:7314484-7314485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532232311	chr9:7314491-7314492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12380463	chr9:7314515-7314516	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568621702	chr9:7314539-7314540	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192100720	chr9:7314563-7314564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113256887	chr9:7314618-7314619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566320965	chr9:7314632-7314633	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534542714	chr9:7314669-7314670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183203041	chr9:7314673-7314674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111704973	chr9:7314682-7314683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111819201	chr9:7314712-7314713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555971232	chr9:7314738-7314739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538056292	chr9:7314744-7314745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556752731	chr9:7314769-7314770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187487237	chr9:7314783-7314784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10976224	chr9:7314798-7314799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs10976225	chr9:7314805-7314806	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs10976226	chr9:7314811-7314812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs10976227	chr9:7314818-7314819	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs77891259	chr9:7314823-7314824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs191996577	chr9:7314834-7314835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs10976228	chr9:7314863-7314864	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs182603851	chr9:7314874-7314875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562341207	chr9:7314913-7314914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529765433	chr9:7314933-7314934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569310956	chr9:7314951-7314952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs78891863	chr9:7314976-7314977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139362872	chr9:7315003-7315004	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs7030945	chr9:7315020-7315021	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7042614	chr9:7315023-7315024	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs115593462	chr9:7315037-7315038	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs538528923	chr9:7315040-7315041	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs550259116	chr9:7315048-7315049	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556840889	chr9:7315092-7315093	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs535030369	chr9:7315093-7315094	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs559091445	chr9:7315095-7315096	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78348150	chr9:7315113-7315114	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs188119805	chr9:7315145-7315146	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs150023194	chr9:7315182-7315183	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570082324	chr9:7315192-7315193	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs545890394	chr9:7315205-7315206	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs146121675	chr9:7315235-7315236	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs577112335	chr9:7315293-7315294	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532931916	chr9:7315332-7315333	Enhancers ZNF genes & repeats	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:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7314400-7314600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:7314600-7315200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:7314600-7315600	Enhancers	Placenta	Placenta
4	chr9:7314600-7317000	Enhancers	Fetal Muscle Leg	muscle
5	chr9:7314800-7317000	Enhancers	Fetal Stomach	stomach
6	chr9:7315000-7315400	Enhancers	Right Ventricle	heart
7	chr9:7315000-7315600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:7315000-7315600	Enhancers	Fetal Muscle Trunk	muscle
9	chr9:7315000-7315600	ZNF genes & repeats	Pancreas	Pancrea
10	chr9:7315000-7317400	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr9:7315000-7317600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr9:7315200-7315400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:7315200-7315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:7315200-7316400	Enhancers	HSMM	muscle
15	chr9:7315200-7316800	Enhancers	Muscle Satellite Cultured Cells	--
16	chr9:7315200-7316800	Enhancers	Fetal Heart	heart
17	chr9:7315200-7316800	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr9:7315200-7317400	Enhancers	NHDF-Ad	bronchial
19	chr9:7315400-7315600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr9:7315400-7316800	Enhancers	Aorta	Aorta
21	chr9:7315400-7316800	Enhancers	Osteobl	bone
22	chr9:7315400-7317400	Enhancers	HSMMtube	muscle
23	chr9:7315600-7315800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr9:7315600-7316000	Weak transcription	Pancreas	Pancrea
25	chr9:7315600-7316600	Weak transcription	Placenta	Placenta
26	chr9:7315600-7316800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr9:7315800-7316000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:7315800-7316000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr9:7315800-7317000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr9:7315800-7317400	Enhancers	Fetal Lung	lung
31	chr9:7316000-7316200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:7316000-7316200	Enhancers	Pancreas	Pancrea
33	chr9:7316000-7316400	Enhancers	Fetal Kidney	kidney
34	chr9:7316000-7316600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:7316000-7316600	Enhancers	Adipose Nuclei	Adipose
36	chr9:7316000-7317000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr9:7316000-7317000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr9:7316000-7317200	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr9:7316000-7317400	Enhancers	H1 Cell Line	embryonic stem cell
40	chr9:7316000-7317400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr9:7316000-7321200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr9:7316200-7316800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr9:7316200-7317000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr9:7316200-7317000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr9:7316200-7317600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:7316200-7320200	Weak transcription	Pancreas	Pancrea
47	chr9:7316400-7316800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr9:7316400-7317200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:7316400-7319800	Weak transcription	HSMM	muscle
50	chr9:7316600-7317000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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