Variant report

Variant	nsv892590
Chromosome Location	chr9:13689066-13777299
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:13757149..13759408-chr9:13764816..13767802,2	MCF-7	breast:
2	chr9:13725307..13728177-chr9:13730804..13732706,2	K562	blood:
3	chr9:13446842..13447486-chr9:13688897..13689613,3	MCF-7	breast:
4	chr9:13726448..13728471-chr9:13729795..13732629,2	MCF-7	breast:
5	chr6:116274902..116275536-chr9:13688718..13689412,2	MCF-7	breast:
6	chr9:13757149..13759408-chr9:13764816..13767802,2	MCF-7	breast:
7	chr9:13725307..13728177-chr9:13730804..13732706,2	K562	blood:
8	chr9:13686906..13689504-chr9:14312996..14314764,2	MCF-7	breast:
9	chr9:13726448..13728471-chr9:13729795..13732629,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000147862	chromatin interactions

Extended variants
information (count: 3865 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:3865 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs518054	chr9:13689066-13689067	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs518139	chr9:13689092-13689093	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116625519	chr9:13689097-13689098	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs192160457	chr9:13689102-13689103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562874627	chr9:13689130-13689131	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs541974694	chr9:13689138-13689139	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs8192991	chr9:13689139-13689140	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79473140	chr9:13689144-13689145	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548239095	chr9:13689205-13689206	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561788783	chr9:13689226-13689227	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs533733106	chr9:13689227-13689228	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547594691	chr9:13689238-13689239	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570638335	chr9:13689254-13689255	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs114645310	chr9:13689275-13689276	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556205127	chr9:13689299-13689300	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs551090232	chr9:13689300-13689301	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs113292640	chr9:13689317-13689318	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs115677737	chr9:13689324-13689325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs78084933	chr9:13689337-13689338	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs375227625	chr9:13689340-13689341	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572138811	chr9:13689365-13689366	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs4741324	chr9:13689370-13689371	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs115906738	chr9:13689429-13689430	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs138409482	chr9:13689435-13689436	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546432469	chr9:13689443-13689444	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370744650	chr9:13689456-13689457	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs57496876	chr9:13689490-13689491	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs146147067	chr9:13689491-13689492	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188272717	chr9:13689517-13689518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537077468	chr9:13689547-13689548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527813696	chr9:13689552-13689553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111344380	chr9:13689618-13689619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570596071	chr9:13689641-13689642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139958981	chr9:13689653-13689654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550009039	chr9:13689654-13689655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570004841	chr9:13689683-13689684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192303012	chr9:13689704-13689705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184639282	chr9:13689717-13689718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565696045	chr9:13689788-13689789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534688243	chr9:13689789-13689790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552824973	chr9:13689805-13689806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189400829	chr9:13689817-13689818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577329659	chr9:13689885-13689886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546124075	chr9:13689890-13689891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374119515	chr9:13689903-13689904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115093160	chr9:13689930-13689931	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181999870	chr9:13689959-13689960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561710676	chr9:13689961-13689962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116721565	chr9:13690006-13690007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556009789	chr9:13690079-13690080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
Disorders of sex development	21048976	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Renal cell carcinoma	21215367	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13687600-13689600	Enhancers	HMEC	breast
2	chr9:13687800-13690000	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr9:13687800-13690200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:13688000-13689400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:13688000-13689400	Enhancers	Fetal Heart	heart
6	chr9:13688200-13689400	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr9:13688200-13689800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:13688200-13690000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr9:13688400-13689200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr9:13688400-13689400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:13688400-13689600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr9:13688400-13689600	Enhancers	Colon Smooth Muscle	Colon
13	chr9:13688600-13689200	Enhancers	Psoas Muscle	Psoas
14	chr9:13688600-13689200	Enhancers	HUVEC	blood vessel
15	chr9:13688600-13689400	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr9:13688600-13690000	Enhancers	HSMMtube	muscle
17	chr9:13688600-13690200	Enhancers	Fetal Muscle Leg	muscle
18	chr9:13688600-13690200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr9:13688800-13689200	Enhancers	Brain Hippocampus Middle	brain
20	chr9:13688800-13689400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:13689000-13689400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:13689000-13689600	Enhancers	Adipose Nuclei	Adipose
23	chr9:13689000-13689800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:13689000-13689800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:13689000-13689800	Weak transcription	Right Ventricle	heart
26	chr9:13689000-13691000	Weak transcription	NHEK	skin
27	chr9:13689000-13695000	Weak transcription	Aorta	Aorta
28	chr9:13689200-13689800	Weak transcription	Psoas Muscle	Psoas
29	chr9:13689200-13690000	Weak transcription	HSMM	muscle
30	chr9:13689800-13690000	Enhancers	Psoas Muscle	Psoas
31	chr9:13689800-13690000	Enhancers	Right Ventricle	heart
32	chr9:13690000-13690400	Enhancers	HSMM	muscle
33	chr9:13690400-13690600	Weak transcription	HSMM	muscle
34	chr9:13690600-13691000	Enhancers	HSMM	muscle
35	chr9:13690600-13691000	Enhancers	Osteobl	bone
36	chr9:13690800-13691200	Enhancers	NHLF	lung
37	chr9:13691000-13691200	Enhancers	NHEK	skin
38	chr9:13697600-13697800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:13704200-13705600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:13704400-13706600	Enhancers	HSMM	muscle
41	chr9:13704800-13705200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:13705000-13706600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr9:13705200-13705400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:13705200-13705600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr9:13705200-13705600	Enhancers	Osteobl	bone
46	chr9:13705200-13705800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:13705200-13706200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr9:13705200-13706400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:13705200-13706600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:13705200-13706600	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links