Variant report

Variant	nsv1051004
Chromosome Location	chr9:72557761-72632015
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:72579585..72583057-chr9:72584421..72588172,5	K562	blood:
2	chr9:72596256..72598713-chr9:72601006..72603750,3	K562	blood:
3	chr9:72625560..72627184-chr9:72663529..72666454,2	MCF-7	breast:
4	chr9:72588649..72589350-chr9:72728157..72729028,2	MCF-7	breast:
5	chr9:72586975..72587497-chr9:73124835..73125760,2	K562	blood:
6	chr9:72625669..72627256-chr9:72629721..72631306,2	MCF-7	breast:
7	chr9:72586536..72587505-chr9:72725613..72726553,4	K562	blood:
8	chr9:72579585..72583057-chr9:72584421..72588172,5	K562	blood:
9	chr9:72586588..72587213-chr9:72844309..72845161,2	MCF-7	breast:
10	chr9:72596256..72598713-chr9:72601006..72603750,3	K562	blood:
11	chr17:62496286..62496984-chr9:72617693..72618495,2	MCF-7	breast:
12	chr9:72586526..72587567-chr9:72725652..72726529,9	MCF-7	breast:
13	chr9:72586559..72587592-chr9:72844298..72845151,6	K562	blood:
14	chr9:72586580..72588000-chr9:72728026..72728995,9	MCF-7	breast:
15	chr9:72554296..72556311-chr9:72558075..72560208,2	K562	blood:
16	chr9:72586692..72587617-chr9:72725591..72726665,4	MCF-7	breast:
17	chr9:72602857..72604672-chr9:72606319..72607860,2	K562	blood:
18	chr9:72602857..72604672-chr9:72606319..72607860,2	K562	blood:
19	chr9:72625669..72627256-chr9:72629721..72631306,2	MCF-7	breast:
20	chr9:72611748..72614537-chr9:72726027..72728626,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265695	chromatin interactions
ENSG00000204706	chromatin interactions

Extended variants
information (count: 2698 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2698 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538649888	chr9:72557795-72557796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558552906	chr9:72557800-72557801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187190593	chr9:72557813-72557814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1907961	chr9:72557829-72557830	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs112569782	chr9:72557830-72557831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138527100	chr9:72557856-72557857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111743104	chr9:72557894-72557895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543246120	chr9:72557896-72557897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561305715	chr9:72557899-72557900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183950103	chr9:72557924-72557925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs565475411	chr9:72557952-72557953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543728045	chr9:72557982-72557983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs371447511	chr9:72557983-72557984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117313402	chr9:72558055-72558056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148914366	chr9:72558086-72558087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7862668	chr9:72558098-72558099	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs143596236	chr9:72558120-72558121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190635056	chr9:72558160-72558161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11140972	chr9:72558190-72558191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs148040970	chr9:72558238-72558239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193129176	chr9:72558250-72558251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371653632	chr9:72558254-72558255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185227224	chr9:72558255-72558256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs560681698	chr9:72558306-72558307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528629830	chr9:72558362-72558363	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570115403	chr9:72558377-72558378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189860199	chr9:72558385-72558386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552540606	chr9:72558431-72558432	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574226628	chr9:72558446-72558447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181604097	chr9:72558448-72558449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78296913	chr9:72558478-72558479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114264241	chr9:72558502-72558503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141745005	chr9:72558541-72558542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565533836	chr9:72558543-72558544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577611429	chr9:72558577-72558578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541481463	chr9:72558588-72558589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12340850	chr9:72558641-72558642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs530240766	chr9:72558674-72558675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185278316	chr9:72558694-72558695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369778485	chr9:72558718-72558719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147183331	chr9:72558728-72558729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530571710	chr9:72558750-72558751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551949423	chr9:72558807-72558808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7863325	chr9:72558811-72558812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs7866429	chr9:72558858-72558859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570453660	chr9:72558884-72558885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7847513	chr9:72558898-72558899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528354832	chr9:72558902-72558903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7848424	chr9:72558913-72558914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567933028	chr9:72558933-72558934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Intellectual disability	21811512	CNVD
Autism	21484199	CNVD
Breast cancer	22737080	CNVD
Malignant peripheral nerve sheath tumor	22811580	CNVD
Leprosy	22719964	CNVD
Primary ovarian insufficiency	22879975	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:796 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72552800-72558200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:72553200-72558400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr9:72553600-72558000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:72556400-72559800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr9:72556400-72559800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:72557400-72559200	Enhancers	NHDF-Ad	bronchial
7	chr9:72558000-72558600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:72558200-72558600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:72558400-72559000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr9:72558600-72560200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:72558600-72560400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:72558800-72559800	Enhancers	Fetal Brain Male	brain
13	chr9:72559000-72560400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr9:72559200-72560200	Weak transcription	NHDF-Ad	bronchial
15	chr9:72559400-72559600	Enhancers	Fetal Brain Female	brain
16	chr9:72559800-72560200	Weak transcription	Fetal Brain Male	brain
17	chr9:72559800-72560200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr9:72559800-72562800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr9:72559800-72563200	Enhancers	Fetal Lung	lung
20	chr9:72560200-72560600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:72560200-72561600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr9:72560200-72562400	Enhancers	Fetal Brain Male	brain
23	chr9:72560200-72562600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:72560200-72562600	Enhancers	Osteobl	bone
25	chr9:72560200-72562800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr9:72560200-72562800	Enhancers	NHLF	lung
27	chr9:72560200-72565000	Enhancers	NHDF-Ad	bronchial
28	chr9:72560400-72560600	Enhancers	Fetal Brain Female	brain
29	chr9:72560400-72560800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:72560400-72560800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:72560400-72560800	Enhancers	Fetal Kidney	kidney
32	chr9:72560400-72561000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:72560400-72561400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr9:72560400-72561600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:72560400-72561600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr9:72560400-72562400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr9:72560400-72562600	Enhancers	HUVEC	blood vessel
38	chr9:72560400-72562800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:72560400-72562800	Enhancers	HSMM	muscle
40	chr9:72560600-72561400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:72560600-72562200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:72560600-72562400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr9:72560600-72562600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr9:72560600-72562800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:72560600-72562800	Enhancers	Hela-S3	cervix
46	chr9:72560600-72562800	Enhancers	HMEC	breast
47	chr9:72560600-72562800	Enhancers	NH-A	brain
48	chr9:72560600-72563000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:72560800-72561600	Enhancers	Rectal Smooth Muscle	rectum
50	chr9:72560800-72561800	Enhancers	A549	lung

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