Variant report

Variant	esv3411346
Chromosome Location	chr9:85846079-85846997
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:85844753..85847059-chr9:86151507..86153223,2	MCF-7	breast:
2	chr9:85844452..85846497-chr9:85849504..85852357,2	MCF-7	breast:
3	chr9:85834296..85835171-chr9:85845740..85846677,8	MCF-7	breast:
4	chr9:85834195..85835447-chr9:85845781..85847161,9	MCF-7	breast:
5	chr9:85845841..85846435-chr9:85856985..85857600,2	MCF-7	breast:
6	chr9:85814102..85814822-chr9:85845756..85846542,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229109	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117490460	chr9:85846118-85846119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs201315616	chr9:85846164-85846165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs200162366	chr9:85846168-85846169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs201176837	chr9:85846169-85846170	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs546882359	chr9:85846178-85846179	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs571656976	chr9:85846190-85846191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs187246532	chr9:85846217-85846218	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs557112441	chr9:85846228-85846229	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs575611612	chr9:85846229-85846230	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs79092833	chr9:85846254-85846255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs536321031	chr9:85846267-85846268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191708357	chr9:85846343-85846344	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573064194	chr9:85846358-85846359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540478619	chr9:85846380-85846381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113020137	chr9:85846394-85846395	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs375562962	chr9:85846421-85846422	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs565153336	chr9:85846477-85846478	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577242910	chr9:85846514-85846515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11139983	chr9:85846516-85846517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs117522950	chr9:85846540-85846541	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529692439	chr9:85846582-85846583	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs574354394	chr9:85846583-85846584	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560236813	chr9:85846592-85846593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs184685586	chr9:85846652-85846653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs137962723	chr9:85846662-85846663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs571594693	chr9:85846732-85846733	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs12350175	chr9:85846784-85846785	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538912825	chr9:85846805-85846806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs189354210	chr9:85846806-85846807	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569116162	chr9:85846824-85846825	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs180851510	chr9:85846873-85846874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs10867955	chr9:85846925-85846926	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs566997524	chr9:85846947-85846948	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85844200-85850600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr9:85845400-85846800	Enhancers	Fetal Heart	heart
3	chr9:85845400-85846800	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr9:85845600-85846800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr9:85845800-85846600	Enhancers	Fetal Muscle Leg	muscle
6	chr9:85846000-85846600	Enhancers	Placenta	Placenta
7	chr9:85846200-85846400	Enhancers	Pancreas	Pancrea
8	chr9:85846200-85846600	Enhancers	Left Ventricle	heart
9	chr9:85846200-85846600	Enhancers	Psoas Muscle	Psoas
10	chr9:85846400-85846600	Enhancers	Right Atrium	heart
11	chr9:85846400-85854000	Weak transcription	Pancreas	Pancrea
12	chr9:85846600-85854000	Weak transcription	Fetal Muscle Leg	muscle
13	chr9:85846600-85854000	Weak transcription	Left Ventricle	heart
14	chr9:85846600-85854000	Weak transcription	Psoas Muscle	Psoas
15	chr9:85846600-85854000	Weak transcription	Right Atrium	heart
16	chr9:85846800-85848400	Weak transcription	Fetal Heart	heart
17	chr9:85846800-85854000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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