Variant report

Variant	esv2761507
Chromosome Location	chr9:17810983-17901307
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:17810712..17811652-chr9:18207926..18208828,3	MCF-7	breast:
2	chr10:33352554..33353197-chr9:17810608..17811353,2	MCF-7	breast:
3	chr9:17822817..17825077-chr9:17826697..17828392,2	K562	blood:
4	chr9:17810623..17811776-chr9:18207859..18208526,4	MCF-7	breast:
5	chr9:17811052..17811931-chr9:18212974..18213863,4	MCF-7	breast:
6	chr9:17822817..17825077-chr9:17826697..17828392,2	K562	blood:

Extended variants
information (count: 2927 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2927 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4961598	chr9:17810983-17810984	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80197252	chr9:17811001-17811002	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566182778	chr9:17811011-17811012	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117849499	chr9:17811021-17811022	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185089723	chr9:17811065-17811066	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189950073	chr9:17811066-17811067	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76455091	chr9:17811109-17811110	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs566633793	chr9:17811129-17811130	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4302936	chr9:17811161-17811162	Active TSS Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs140953531	chr9:17811166-17811167	Active TSS Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368165685	chr9:17811203-17811204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183324618	chr9:17811225-17811226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534622403	chr9:17811242-17811243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552657921	chr9:17811267-17811268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13301883	chr9:17811310-17811311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs541587539	chr9:17811328-17811329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs5896760	chr9:17811346-17811347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs397894047	chr9:17811352-17811353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144593101	chr9:17811365-17811366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548685737	chr9:17811373-17811374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546015527	chr9:17811394-17811395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116048401	chr9:17811401-17811402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572902545	chr9:17811420-17811421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138543696	chr9:17811427-17811428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547793502	chr9:17811442-17811443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559517568	chr9:17811454-17811455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530092479	chr9:17811462-17811463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141550725	chr9:17811482-17811483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540006135	chr9:17811484-17811485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368725199	chr9:17811494-17811495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs561941016	chr9:17811506-17811507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569812121	chr9:17811534-17811535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548480995	chr9:17811546-17811547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs537849539	chr9:17811554-17811555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10810852	chr9:17811584-17811585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs527472495	chr9:17811591-17811592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186640843	chr9:17811615-17811616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534977777	chr9:17811634-17811635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10963281	chr9:17811654-17811655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562540351	chr9:17811705-17811706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144376627	chr9:17811718-17811719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535419008	chr9:17811752-17811753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557138429	chr9:17811789-17811790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148378142	chr9:17811854-17811855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546028123	chr9:17811861-17811862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557957500	chr9:17811877-17811878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572973996	chr9:17811889-17811890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs10963282	chr9:17811897-17811898	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs10963283	chr9:17811909-17811910	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530086038	chr9:17811955-17811956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	21364760	CNVD
Cancer	22183965	CNVD
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17796000-17812000	Weak transcription	Aorta	Aorta
2	chr9:17808400-17812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:17810600-17811800	Enhancers	Hela-S3	cervix
4	chr9:17810600-17812600	Enhancers	Fetal Brain Male	brain
5	chr9:17810800-17811000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:17810800-17811000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:17810800-17811000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
8	chr9:17810800-17811000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr9:17810800-17811000	Enhancers	Brain Angular Gyrus	brain
10	chr9:17810800-17811000	Enhancers	Brain Anterior Caudate	brain
11	chr9:17810800-17811000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
12	chr9:17810800-17811000	Bivalent Enhancer	Fetal Lung	lung
13	chr9:17810800-17811000	Bivalent Enhancer	HUVEC	blood vessel
14	chr9:17810800-17811000	Bivalent Enhancer	Osteobl	bone
15	chr9:17810800-17811200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr9:17810800-17811200	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:17810800-17811200	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr9:17810800-17811200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr9:17810800-17811200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:17810800-17811200	Enhancers	Fetal Brain Female	brain
21	chr9:17810800-17811200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr9:17810800-17812400	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr9:17811000-17812800	Enhancers	Fetal Lung	lung
24	chr9:17811200-17811800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr9:17811200-17811800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr9:17811200-17812400	Weak transcription	Fetal Brain Female	brain
27	chr9:17811200-17814200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr9:17811400-17811800	Enhancers	Stomach Smooth Muscle	stomach
29	chr9:17811400-17812400	Enhancers	Fetal Heart	heart
30	chr9:17811400-17813000	Enhancers	Fetal Stomach	stomach
31	chr9:17811600-17811800	Enhancers	Colon Smooth Muscle	Colon
32	chr9:17811600-17812800	Enhancers	Fetal Muscle Leg	muscle
33	chr9:17811800-17812800	Enhancers	Fetal Kidney	kidney
34	chr9:17812000-17812200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:17812000-17812200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr9:17812000-17812200	Enhancers	Aorta	Aorta
37	chr9:17812000-17812600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr9:17812000-17812800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:17812000-17812800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:17812200-17812400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:17812200-17814200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:17812400-17812800	Enhancers	Brain Germinal Matrix	brain
43	chr9:17812400-17812800	Enhancers	Fetal Brain Female	brain
44	chr9:17812400-17813000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:17812400-17816200	Weak transcription	Fetal Heart	heart
46	chr9:17812600-17812800	Enhancers	Colon Smooth Muscle	Colon
47	chr9:17812600-17815800	Weak transcription	Fetal Brain Male	brain
48	chr9:17812800-17814000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:17812800-17816400	Weak transcription	Fetal Brain Female	brain
50	chr9:17814200-17814400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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