Variant report

Variant	nsv892598
Chromosome Location	chr9:14234315-14274950
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:34)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:34 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14261603..14262405-chr9:14406740..14407247,3	MCF-7	breast:
2	chr9:14269033..14270818-chr9:14320491..14322690,2	K562	blood:
3	chr9:14239275..14240780-chr9:14249848..14252251,2	MCF-7	breast:
4	chr9:14257197..14261472-chr9:14269908..14272185,3	MCF-7	breast:
5	chr9:14271838..14274648-chr9:14303961..14305841,2	MCF-7	breast:
6	chr9:14253432..14256113-chr9:14271448..14274053,2	MCF-7	breast:
7	chr7:53460851..53461831-chr9:14244620..14245120,2	MCF-7	breast:
8	chr11:82524851..82525585-chr9:14244620..14245120,2	MCF-7	breast:
9	chr9:14231565..14234116-chr9:14237847..14240047,2	MCF-7	breast:
10	chr8:43092931..43093431-chr9:14244598..14245100,2	MCF-7	breast:
11	chr8:43092744..43093495-chr9:14244119..14245100,3	MCF-7	breast:
12	chr8:43096231..43096892-chr9:14244600..14245100,2	MCF-7	breast:
13	chr9:14251090..14252086-chr9:14261627..14262408,2	MCF-7	breast:
14	chr9:14249968..14256064-chr9:14312661..14317512,12	MCF-7	breast:
15	chr13:40007058..40008578-chr9:14244599..14246120,2	MCF-7	breast:
16	chr9:14239275..14240780-chr9:14249848..14252251,2	MCF-7	breast:
17	chr9:14257197..14261472-chr9:14269908..14272185,3	MCF-7	breast:
18	chr15:65588766..65591318-chr9:14248852..14251417,2	MCF-7	breast:
19	chr8:43092281..43092930-chr9:14244099..14244599,2	MCF-7	breast:
20	chr9:14270274..14272332-chr9:14313445..14314980,2	K562	blood:
21	chr9:14250809..14252545-chr9:14321944..14323813,2	MCF-7	breast:
22	chr9:14263580..14266486-chr9:14276040..14277567,2	K562	blood:
23	chr9:14251090..14252086-chr9:14261627..14262408,2	MCF-7	breast:
24	chr9:14253432..14256113-chr9:14271448..14274053,2	MCF-7	breast:
25	chr9:14250972..14252069-chr9:14406629..14407235,4	MCF-7	breast:
26	chr9:14236857..14240326-chr9:14312034..14315469,3	MCF-7	breast:
27	chr9:14238955..14240869-chr9:14312847..14315705,2	MCF-7	breast:
28	chr9:14261603..14262405-chr9:14406659..14407247,4	MCF-7	breast:
29	chr9:14265870..14269043-chr9:14313113..14315544,3	MCF-7	breast:
30	chr9:14218690..14221524-chr9:14235018..14237230,2	MCF-7	breast:
31	chr9:14268295..14270071-chr9:14312148..14313733,2	MCF-7	breast:
32	chr9:14272688..14274248-chr9:14278922..14280756,2	MCF-7	breast:
33	chr9:14228943..14231168-chr9:14236666..14238906,2	MCF-7	breast:
34	chr9:14272682..14274705-chr9:14288775..14291529,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225472	chromatin interactions
ENSG00000147862	chromatin interactions

Extended variants
information (count: 1787 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1787 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10961440	chr9:14234315-14234316	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs60691628	chr9:14234373-14234374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529049752	chr9:14234374-14234375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558247664	chr9:14234427-14234428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192261084	chr9:14234447-14234448	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577929936	chr9:14234462-14234463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201815190	chr9:14234515-14234516	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537028011	chr9:14234525-14234526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542563117	chr9:14234542-14234543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556970748	chr9:14234564-14234565	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs573587472	chr9:14234637-14234638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542559207	chr9:14234638-14234639	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs58449298	chr9:14234665-14234666	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368345239	chr9:14234673-14234674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548914554	chr9:14234709-14234710	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs199567397	chr9:14234773-14234774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs386732905	chr9:14234774-14234775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4741354	chr9:14234775-14234776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551371648	chr9:14234780-14234781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544741724	chr9:14234781-14234782	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200830057	chr9:14234792-14234793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565009830	chr9:14234794-14234795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77606938	chr9:14234802-14234803	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113148766	chr9:14234804-14234805	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs386414480	chr9:14234805-14234806	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386414481	chr9:14234813-14234814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372449946	chr9:14234814-14234815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565006316	chr9:14234838-14234839	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530547095	chr9:14234860-14234861	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530509887	chr9:14234868-14234869	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550578247	chr9:14234871-14234872	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188828416	chr9:14234909-14234910	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs181293934	chr9:14234911-14234912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556114495	chr9:14234939-14234940	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534644789	chr9:14234965-14234966	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532394808	chr9:14234980-14234981	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7040053	chr9:14235002-14235003	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566108481	chr9:14235024-14235025	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535244101	chr9:14235028-14235029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551716175	chr9:14235031-14235032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184350580	chr9:14235034-14235035	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189244133	chr9:14235056-14235057	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78959125	chr9:14235063-14235064	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368511552	chr9:14235070-14235071	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182329676	chr9:14235083-14235084	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146563713	chr9:14235111-14235112	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187325041	chr9:14235124-14235125	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572920714	chr9:14235132-14235133	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545164447	chr9:14235173-14235174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77667567	chr9:14235187-14235188	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	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
Melanoma	20877625	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD

Chromatin state (count:1749 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14221200-14245600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:14221800-14237400	Weak transcription	Aorta	Aorta
3	chr9:14221800-14237400	Weak transcription	Gastric	stomach
4	chr9:14222200-14235200	Weak transcription	Fetal Intestine Small	intestine
5	chr9:14222400-14235200	Weak transcription	Liver	Liver
6	chr9:14222400-14235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:14222400-14236400	Weak transcription	HSMM	muscle
8	chr9:14222400-14236800	Weak transcription	NHLF	lung
9	chr9:14222400-14237200	Weak transcription	Stomach Mucosa	stomach
10	chr9:14222400-14237800	Weak transcription	NH-A	brain
11	chr9:14222400-14238000	Weak transcription	Placenta	Placenta
12	chr9:14222400-14240600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr9:14222600-14235200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:14222600-14235800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:14222600-14236400	Weak transcription	Psoas Muscle	Psoas
16	chr9:14222600-14236400	Weak transcription	HMEC	breast
17	chr9:14222600-14236800	Weak transcription	NHEK	skin
18	chr9:14222600-14237000	Weak transcription	Hela-S3	cervix
19	chr9:14222600-14238000	Weak transcription	Osteobl	bone
20	chr9:14222800-14236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr9:14223000-14236400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:14223200-14236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr9:14224000-14238000	Weak transcription	Pancreas	Pancrea
24	chr9:14224400-14246800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr9:14224800-14235200	Weak transcription	Small Intestine	intestine
26	chr9:14224800-14237800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:14227200-14235200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:14227600-14236400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr9:14230000-14237000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr9:14231000-14238200	Weak transcription	Ovary	ovary
31	chr9:14231400-14235800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:14231600-14235200	Weak transcription	Adipose Nuclei	Adipose
33	chr9:14232000-14235200	Weak transcription	A549	lung
34	chr9:14232200-14235600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr9:14232200-14235600	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:14232200-14236000	Weak transcription	Brain Substantia Nigra	brain
37	chr9:14232400-14235000	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr9:14232400-14235800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:14232400-14235800	Weak transcription	Brain Hippocampus Middle	brain
40	chr9:14232400-14236200	Weak transcription	Fetal Stomach	stomach
41	chr9:14232400-14237000	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr9:14232600-14235000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr9:14232600-14235000	Weak transcription	Fetal Lung	lung
44	chr9:14232600-14235000	Weak transcription	HUVEC	blood vessel
45	chr9:14232600-14237000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr9:14232600-14237400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr9:14232800-14235000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:14233000-14234800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr9:14233000-14235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:14233000-14235200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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