Variant report

Variant	esv2752288
Chromosome Location	chr9:17965723-18036892
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	chr9:18016854..18017748-chr9:18207853..18208432,2	MCF-7	breast:

Extended variants
information (count: 2679 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:2679 , 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	rs16936157	chr9:17965723-17965724	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561290335	chr9:17965759-17965760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531734422	chr9:17965832-17965833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369618879	chr9:17965836-17965837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550265307	chr9:17965847-17965848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369466944	chr9:17965857-17965858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571905791	chr9:17965889-17965890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539215468	chr9:17965903-17965904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569038297	chr9:17965937-17965938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187148610	chr9:17965985-17965986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566236614	chr9:17966013-17966014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575769107	chr9:17966017-17966018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536912804	chr9:17966051-17966052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192436514	chr9:17966064-17966065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs7862627	chr9:17966078-17966079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372757385	chr9:17966079-17966080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536782531	chr9:17966091-17966092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558205836	chr9:17966099-17966100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185201799	chr9:17966105-17966106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189910511	chr9:17966144-17966145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113315080	chr9:17966186-17966187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574647442	chr9:17966212-17966213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182507359	chr9:17966224-17966225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561140994	chr9:17966235-17966236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1755280	chr9:17966244-17966245	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs79464887	chr9:17966266-17966267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565377464	chr9:17966271-17966272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72695992	chr9:17966368-17966369	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111558155	chr9:17966429-17966430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566233919	chr9:17966452-17966453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530340682	chr9:17966464-17966465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118117817	chr9:17966480-17966481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs367610939	chr9:17966496-17966497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543965157	chr9:17966503-17966504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371858825	chr9:17966504-17966505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72695993	chr9:17966545-17966546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs558270821	chr9:17966590-17966591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570222625	chr9:17966597-17966598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534369029	chr9:17966632-17966633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552915081	chr9:17966649-17966650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146532022	chr9:17966689-17966690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541795141	chr9:17966791-17966792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1329912	chr9:17966801-17966802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs576555407	chr9:17966802-17966803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113349452	chr9:17966866-17966867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371222560	chr9:17966878-17966879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578064266	chr9:17966919-17966920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543831186	chr9:17966923-17966924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374587820	chr9:17966966-17966967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565242069	chr9:17966985-17966986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17963000-17970600	Weak transcription	Aorta	Aorta
2	chr9:17968000-17970800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr9:17968400-17968600	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr9:17970400-17970800	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr9:17970400-17970800	Enhancers	Hela-S3	cervix
6	chr9:17970600-17970800	ZNF genes & repeats	Aorta	Aorta
7	chr9:17974600-17975200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr9:17985600-17987000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr9:17986200-17987800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr9:17986200-17989000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr9:17986400-17988400	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:17986600-17989800	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr9:17987000-17988200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr9:17987000-17988400	Enhancers	Fetal Intestine Large	intestine
15	chr9:17987200-17988200	Enhancers	Aorta	Aorta
16	chr9:17987200-17988400	Enhancers	Fetal Intestine Small	intestine
17	chr9:17988000-17989800	Enhancers	Liver	Liver
18	chr9:17988200-18004400	Weak transcription	Aorta	Aorta
19	chr9:17988400-17988800	Weak transcription	Fetal Intestine Large	intestine
20	chr9:17988400-17988800	Weak transcription	Fetal Intestine Small	intestine
21	chr9:17988400-17992400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:17988800-17989000	Enhancers	Fetal Intestine Large	intestine
23	chr9:17988800-17989000	Enhancers	Fetal Intestine Small	intestine
24	chr9:17989000-17992400	Weak transcription	Fetal Intestine Large	intestine
25	chr9:17989000-17992400	Weak transcription	Fetal Intestine Small	intestine
26	chr9:17989000-17992800	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr9:17989800-17994200	Weak transcription	Liver	Liver
28	chr9:17989800-17995000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr9:17990600-17998000	Enhancers	Hela-S3	cervix
30	chr9:17991600-17992000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:17991600-17992000	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:17991600-17992200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr9:17992000-17995000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr9:17992200-17995000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr9:17992400-17995400	Enhancers	Fetal Intestine Large	intestine
36	chr9:17992400-17995400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr9:17992400-17995600	Enhancers	Fetal Intestine Small	intestine
38	chr9:17992800-17993000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr9:17993000-17993400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:17993000-17995200	Enhancers	Duodenum Mucosa	Duodenum
41	chr9:17993200-17997000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr9:17993400-17993600	Enhancers	Small Intestine	intestine
43	chr9:17993400-17994600	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr9:17994000-17994200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr9:17994200-17995200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr9:17994200-17995400	Enhancers	Liver	Liver
47	chr9:17994200-17995400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr9:17994600-17995200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:17994600-17995400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:17994600-17995600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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