Variant report

Variant	nsv415373
Chromosome Location	chr9:116663230-116663463
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116660624..116662280-chr9:116663059..116664956,2	MCF-7	breast:
2	chr9:116658311..116661574-chr9:116662658..116666570,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35953808	chr9:116663230-116663231	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs61482083	chr9:116663238-116663239	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs61389078	chr9:116663241-116663242	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs373088830	chr9:116663243-116663244	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs57612412	chr9:116663256-116663257	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs34593865	chr9:116663265-116663266	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572819654	chr9:116663269-116663270	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs57641815	chr9:116663280-116663281	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs34991808	chr9:116663304-116663305	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs34192904	chr9:116663308-116663309	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs113677193	chr9:116663316-116663317	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs370387741	chr9:116663343-116663344	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs111842223	chr9:116663358-116663359	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs541260235	chr9:116663386-116663387	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564653366	chr9:116663394-116663395	Strong transcription Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs187480533	chr9:116663410-116663411	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs201446869	chr9:116663413-116663414	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs35381898	chr9:116663416-116663417	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs192886432	chr9:116663431-116663432	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs117722591	chr9:116663443-116663444	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116639200-116663400	Weak transcription	Gastric	stomach
2	chr9:116649800-116663800	Weak transcription	HSMMtube	muscle
3	chr9:116649800-116668600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:116651000-116668000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:116651200-116675000	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:116652200-116668400	Weak transcription	NH-A	brain
7	chr9:116653000-116663800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:116653200-116668400	Weak transcription	NHLF	lung
9	chr9:116653200-116669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr9:116653200-116671800	Weak transcription	Fetal Lung	lung
11	chr9:116653400-116669000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr9:116653800-116665400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:116653800-116669000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:116653800-116674000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr9:116654400-116665400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:116654400-116668200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr9:116654600-116663600	Weak transcription	HSMM	muscle
18	chr9:116655400-116664000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr9:116655600-116663400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:116655600-116663400	Weak transcription	Ovary	ovary
21	chr9:116658000-116668400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:116658200-116663400	Weak transcription	NHDF-Ad	bronchial
23	chr9:116658800-116663400	Weak transcription	Fetal Muscle Leg	muscle
24	chr9:116659400-116685400	Weak transcription	A549	lung
25	chr9:116660400-116668000	Weak transcription	HMEC	breast
26	chr9:116660600-116668400	Weak transcription	HUVEC	blood vessel
27	chr9:116661200-116663600	Weak transcription	Aorta	Aorta
28	chr9:116661800-116664000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr9:116661800-116664200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:116661800-116668000	Weak transcription	Pancreas	Pancrea
31	chr9:116661800-116669200	Weak transcription	Lung	lung
32	chr9:116662000-116671400	Weak transcription	Right Ventricle	heart
33	chr9:116662400-116665400	Weak transcription	Adipose Nuclei	Adipose
34	chr9:116662600-116664000	Strong transcription	Fetal Intestine Small	intestine
35	chr9:116662800-116664400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:116663000-116663800	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr9:116663200-116663400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:116663200-116663600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr9:116663200-116664400	Strong transcription	Fetal Stomach	stomach
40	chr9:116663400-116663600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:116663400-116663600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr9:116663400-116663600	Flanking Active TSS	Spleen	Spleen
43	chr9:116663400-116664000	Enhancers	Gastric	stomach
44	chr9:116663400-116664200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr9:116663400-116664200	Enhancers	Ovary	ovary
46	chr9:116663400-116664400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr9:116663400-116664400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr9:116663400-116664400	Enhancers	NHDF-Ad	bronchial
49	chr9:116663400-116664600	Enhancers	Fetal Brain Male	brain
50	chr9:116663400-116664600	Enhancers	Fetal Muscle Leg	muscle

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