Variant report

Variant	nsv1035668
Chromosome Location	chr9:72555053-72632796
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:72552090..72553965-chr9:72554095..72555858,2	K562	blood:
2	chr9:72586526..72587567-chr9:72725652..72726529,9	MCF-7	breast:
3	chr9:72588649..72589350-chr9:72728157..72729028,2	MCF-7	breast:
4	chr9:72586580..72588000-chr9:72728026..72728995,9	MCF-7	breast:
5	chr9:72586975..72587497-chr9:73124835..73125760,2	K562	blood:
6	chr9:72554296..72556311-chr9:72558075..72560208,2	K562	blood:
7	chr9:72579585..72583057-chr9:72584421..72588172,5	K562	blood:
8	chr9:72586588..72587213-chr9:72844309..72845161,2	MCF-7	breast:
9	chr9:72625669..72627256-chr9:72629721..72631306,2	MCF-7	breast:
10	chr9:72586692..72587617-chr9:72725591..72726665,4	MCF-7	breast:
11	chr9:72579585..72583057-chr9:72584421..72588172,5	K562	blood:
12	chr9:72596256..72598713-chr9:72601006..72603750,3	K562	blood:
13	chr9:72625669..72627256-chr9:72629721..72631306,2	MCF-7	breast:
14	chr9:72554296..72556311-chr9:72558075..72560208,2	K562	blood:
15	chr9:72586559..72587592-chr9:72844298..72845151,6	K562	blood:
16	chr9:72602857..72604672-chr9:72606319..72607860,2	K562	blood:
17	chr9:72596256..72598713-chr9:72601006..72603750,3	K562	blood:
18	chr9:72611748..72614537-chr9:72726027..72728626,2	MCF-7	breast:
19	chr17:62496286..62496984-chr9:72617693..72618495,2	MCF-7	breast:
20	chr9:72586536..72587505-chr9:72725613..72726553,4	K562	blood:
21	chr9:72625560..72627184-chr9:72663529..72666454,2	MCF-7	breast:
22	chr9:72602857..72604672-chr9:72606319..72607860,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204706	chromatin interactions
ENSG00000265695	chromatin interactions

Extended variants
information (count: 2832 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:2832 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555403394	chr9:72555069-72555070	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191338229	chr9:72555088-72555089	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147234313	chr9:72555143-72555144	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs116893679	chr9:72555241-72555242	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs562696046	chr9:72555245-72555246	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs577894948	chr9:72555249-72555250	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs118015682	chr9:72555269-72555270	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538217285	chr9:72555357-72555358	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs11140964	chr9:72555370-72555371	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs527242604	chr9:72555387-72555388	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs148797726	chr9:72555402-72555403	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs199777470	chr9:72555528-72555529	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs1493051	chr9:72555539-72555540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs73442680	chr9:72555568-72555569	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs528548260	chr9:72555570-72555571	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs73442681	chr9:72555581-72555582	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs372860331	chr9:72555600-72555601	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs574673660	chr9:72555601-72555602	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs539766938	chr9:72555616-72555617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551626933	chr9:72555635-72555636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs566539051	chr9:72555639-72555640	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11515713	chr9:72555686-72555687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs75372134	chr9:72555733-72555734	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs181419203	chr9:72555749-72555750	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs538321828	chr9:72555802-72555803	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs556106755	chr9:72555805-72555806	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs185538052	chr9:72555809-72555810	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs545331450	chr9:72555816-72555817	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113239215	chr9:72555828-72555829	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560369469	chr9:72555920-72555921	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs10868291	chr9:72555964-72555965	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs572364975	chr9:72556046-72556047	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs542682089	chr9:72556060-72556061	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs545847624	chr9:72556069-72556070	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560922429	chr9:72556079-72556080	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531331846	chr9:72556080-72556081	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73442682	chr9:72556092-72556093	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs35132428	chr9:72556115-72556116	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs142455653	chr9:72556157-72556158	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs533531746	chr9:72556180-72556181	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551663379	chr9:72556241-72556242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566869729	chr9:72556271-72556272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs151310647	chr9:72556290-72556291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549001419	chr9:72556378-72556379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182209902	chr9:72556461-72556462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140539664	chr9:72556468-72556469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34924165	chr9:72556484-72556485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556578709	chr9:72556488-72556489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111262687	chr9:72556507-72556508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538883462	chr9:72556545-72556546	Weak transcription	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:804 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	chr9:72555000-72555800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr9:72555000-72556200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr9:72555200-72555600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr9:72555800-72556200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr9:72556200-72556400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr9:72556200-72556400	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr9:72556400-72559800	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr9:72556400-72559800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr9:72557400-72559200	Enhancers	NHDF-Ad	bronchial
13	chr9:72558000-72558600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:72558200-72558600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr9:72558400-72559000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:72558600-72560200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:72558600-72560400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr9:72558800-72559800	Enhancers	Fetal Brain Male	brain
19	chr9:72559000-72560400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:72559200-72560200	Weak transcription	NHDF-Ad	bronchial
21	chr9:72559400-72559600	Enhancers	Fetal Brain Female	brain
22	chr9:72559800-72560200	Weak transcription	Fetal Brain Male	brain
23	chr9:72559800-72560200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr9:72559800-72562800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr9:72559800-72563200	Enhancers	Fetal Lung	lung
26	chr9:72560200-72560600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:72560200-72561600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr9:72560200-72562400	Enhancers	Fetal Brain Male	brain
29	chr9:72560200-72562600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:72560200-72562600	Enhancers	Osteobl	bone
31	chr9:72560200-72562800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:72560200-72562800	Enhancers	NHLF	lung
33	chr9:72560200-72565000	Enhancers	NHDF-Ad	bronchial
34	chr9:72560400-72560600	Enhancers	Fetal Brain Female	brain
35	chr9:72560400-72560800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr9:72560400-72560800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:72560400-72560800	Enhancers	Fetal Kidney	kidney
38	chr9:72560400-72561000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr9:72560400-72561400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:72560400-72561600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:72560400-72561600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr9:72560400-72562400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr9:72560400-72562600	Enhancers	HUVEC	blood vessel
44	chr9:72560400-72562800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:72560400-72562800	Enhancers	HSMM	muscle
46	chr9:72560600-72561400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:72560600-72562200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:72560600-72562400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr9:72560600-72562600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr9:72560600-72562800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links