Variant report

Variant	esv2560176
Chromosome Location	chr9:116397318-116399163
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116398646..116400904-chr9:116412622..116414433,2	MCF-7	breast:
2	chr9:116395680..116398027-chr9:116408814..116410400,2	MCF-7	breast:
3	chr9:116392305..116395161-chr9:116397306..116400059,2	MCF-7	breast:
4	chr9:116396277..116398394-chr9:116409096..116411903,2	MCF-7	breast:
5	chr9:116383167..116386391-chr9:116389906..116398638,8	MCF-7	breast:
6	chr9:116382976..116384778-chr9:116398456..116400066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000227482	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148846263	chr9:116397359-116397360	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs552691479	chr9:116397380-116397381	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs589248	chr9:116397397-116397398	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537911769	chr9:116397449-116397450	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549547219	chr9:116397470-116397471	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569500789	chr9:116397499-116397500	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs368877361	chr9:116397535-116397536	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs147917652	chr9:116397542-116397543	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs371798544	chr9:116397550-116397551	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs375168231	chr9:116397551-116397552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs59145814	chr9:116397592-116397593	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534194062	chr9:116397633-116397634	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs141869590	chr9:116397676-116397677	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs61014328	chr9:116397681-116397682	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs544999462	chr9:116397685-116397686	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs76902700	chr9:116397691-116397692	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs182215224	chr9:116397749-116397750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs77906100	chr9:116397770-116397771	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs560963070	chr9:116397814-116397815	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369668113	chr9:116397819-116397820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186842404	chr9:116397825-116397826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148093258	chr9:116397879-116397880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs371607031	chr9:116397885-116397886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112549178	chr9:116397887-116397888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552607326	chr9:116397897-116397898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190034580	chr9:116397898-116397899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538025230	chr9:116397907-116397908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150189824	chr9:116397922-116397923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568176834	chr9:116397935-116397936	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs727866	chr9:116397937-116397938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181110974	chr9:116397960-116397961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201410363	chr9:116397968-116397969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185871547	chr9:116398009-116398010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577186377	chr9:116398010-116398011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs1679671	chr9:116398035-116398036	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs76306682	chr9:116398084-116398085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189799542	chr9:116398116-116398117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544412682	chr9:116398120-116398121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368938450	chr9:116398170-116398171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554811182	chr9:116398213-116398214	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs138849250	chr9:116398223-116398224	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs10981850	chr9:116398227-116398228	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs560057811	chr9:116398238-116398239	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs142035118	chr9:116398268-116398269	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545812108	chr9:116398277-116398278	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs35787883	chr9:116398313-116398314	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs10817496	chr9:116398343-116398344	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs180988150	chr9:116398349-116398350	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs369956651	chr9:116398360-116398361	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs186363173	chr9:116398375-116398376	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Breast cancer	22522925	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116385800-116402600	Weak transcription	Stomach Mucosa	stomach
2	chr9:116389800-116402800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:116392600-116399000	Enhancers	Fetal Muscle Leg	muscle
4	chr9:116393400-116397400	Enhancers	NHLF	lung
5	chr9:116393400-116399400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr9:116393600-116398400	Enhancers	Osteobl	bone
7	chr9:116393600-116399000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:116393800-116398800	Enhancers	Fetal Stomach	stomach
9	chr9:116394400-116397600	Enhancers	Fetal Heart	heart
10	chr9:116394600-116399000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr9:116394800-116398400	Enhancers	HUVEC	blood vessel
12	chr9:116395000-116398600	Enhancers	Fetal Muscle Trunk	muscle
13	chr9:116395200-116398800	Enhancers	Fetal Lung	lung
14	chr9:116395600-116398000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr9:116396000-116398600	Enhancers	NH-A	brain
16	chr9:116396000-116398800	Enhancers	Psoas Muscle	Psoas
17	chr9:116396000-116399200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:116396200-116397400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
19	chr9:116396200-116398400	Enhancers	HSMMtube	muscle
20	chr9:116396200-116398800	Enhancers	Right Atrium	heart
21	chr9:116396200-116398800	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr9:116396200-116399000	Enhancers	Adipose Nuclei	Adipose
23	chr9:116396200-116399000	Enhancers	HSMM	muscle
24	chr9:116396200-116399400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:116396200-116399400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr9:116396400-116397400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
27	chr9:116396400-116397400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
28	chr9:116396400-116397600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:116396400-116398200	Enhancers	Liver	Liver
30	chr9:116396400-116398800	Enhancers	Left Ventricle	heart
31	chr9:116396800-116397600	Weak transcription	Lung	lung
32	chr9:116396800-116397800	Enhancers	A549	lung
33	chr9:116396800-116398000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:116396800-116398200	Enhancers	Right Ventricle	heart
35	chr9:116396800-116398600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr9:116396800-116398600	Enhancers	Ovary	ovary
37	chr9:116396800-116398800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:116397000-116397400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:116397000-116397400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr9:116397000-116397400	Enhancers	Fetal Kidney	kidney
41	chr9:116397000-116397800	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr9:116397000-116398000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:116397000-116399600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:116397200-116397400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:116397200-116397800	Enhancers	Colon Smooth Muscle	Colon
46	chr9:116397200-116397800	Flanking Active TSS	HepG2	liver
47	chr9:116397200-116398400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:116397200-116398600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:116397200-116398800	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr9:116397200-116400400	Weak transcription	Rectal Smooth Muscle	rectum

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