Variant report

Variant	nsv968713
Chromosome Location	chr9:86517820-86522655
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	chr9:86451626..86452376-chr9:86520762..86521311,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226877	chromatin interactions

Extended variants
information (count: 175 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4269618	chr9:86517854-86517855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565153874	chr9:86517881-86517882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532410319	chr9:86517883-86517884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113653407	chr9:86517936-86517937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142728940	chr9:86517992-86517993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147375672	chr9:86518002-86518003	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs148142223	chr9:86518052-86518053	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs375423464	chr9:86518053-86518054	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs369773131	chr9:86518086-86518087	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs34326649	chr9:86518101-86518102	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs376468427	chr9:86518107-86518108	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs548430317	chr9:86518125-86518126	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs77150451	chr9:86518136-86518137	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569987566	chr9:86518137-86518138	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs370980782	chr9:86518138-86518139	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs200613968	chr9:86518153-86518154	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs138516740	chr9:86518174-86518175	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs192546948	chr9:86518180-86518181	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs199704500	chr9:86518190-86518191	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539279708	chr9:86518254-86518255	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139709598	chr9:86518269-86518270	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs41282417	chr9:86518285-86518286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368483166	chr9:86518296-86518297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200024207	chr9:86518307-86518308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367896750	chr9:86518333-86518334	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371692315	chr9:86518334-86518335	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146210501	chr9:86518379-86518380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139068232	chr9:86518380-86518381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34191544	chr9:86518386-86518387	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs144003628	chr9:86518433-86518434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs116477156	chr9:86518471-86518472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532390425	chr9:86518472-86518473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544638098	chr9:86518485-86518486	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113210971	chr9:86518487-86518488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147859809	chr9:86518496-86518497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548369061	chr9:86518500-86518501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142339049	chr9:86518516-86518517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374690692	chr9:86518519-86518520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35594736	chr9:86518534-86518535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368536781	chr9:86518535-86518536	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187494265	chr9:86518546-86518547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs150593704	chr9:86518555-86518556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151248208	chr9:86518582-86518583	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140475602	chr9:86518584-86518585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372449530	chr9:86518595-86518596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150432893	chr9:86518596-86518597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376710039	chr9:86518631-86518632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs138255319	chr9:86518648-86518649	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193285297	chr9:86518650-86518651	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139609439	chr9:86518655-86518656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86460600-86518200	Weak transcription	Thymus	Thymus
2	chr9:86461600-86535400	Weak transcription	Fetal Intestine Small	intestine
3	chr9:86461600-86535400	Weak transcription	Ovary	ovary
4	chr9:86462200-86535200	Weak transcription	Fetal Brain Female	brain
5	chr9:86462600-86535200	Weak transcription	Brain Anterior Caudate	brain
6	chr9:86462800-86518000	Weak transcription	Fetal Intestine Large	intestine
7	chr9:86462800-86518000	Weak transcription	Fetal Stomach	stomach
8	chr9:86481000-86535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:86482000-86518000	Weak transcription	Left Ventricle	heart
10	chr9:86491000-86535200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr9:86491200-86535200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr9:86491400-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:86491800-86518200	Weak transcription	Primary B cells from cord blood	blood
14	chr9:86495000-86518000	Weak transcription	Primary T cells from cord blood	blood
15	chr9:86496000-86535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:86496400-86533000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr9:86499400-86518200	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:86499400-86535000	Weak transcription	Fetal Kidney	kidney
19	chr9:86499800-86523200	Weak transcription	Fetal Thymus	thymus
20	chr9:86500000-86534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr9:86500200-86521200	Weak transcription	Adipose Nuclei	Adipose
22	chr9:86500200-86521200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:86500200-86535200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr9:86500200-86535200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr9:86500200-86535600	Weak transcription	Lung	lung
26	chr9:86501200-86521600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr9:86502000-86532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:86502600-86535000	Weak transcription	Fetal Lung	lung
29	chr9:86503000-86518000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr9:86506400-86534800	Weak transcription	Pancreas	Pancrea
31	chr9:86508200-86518400	Weak transcription	Aorta	Aorta
32	chr9:86508200-86535600	Weak transcription	Esophagus	oesophagus
33	chr9:86508400-86520200	Weak transcription	Liver	Liver
34	chr9:86509000-86521200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr9:86512400-86535400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:86512600-86518000	Weak transcription	Spleen	Spleen
37	chr9:86512600-86535400	Weak transcription	Placenta	Placenta
38	chr9:86513200-86534800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:86513800-86518000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr9:86513800-86519000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr9:86516200-86521400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:86516200-86535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr9:86517000-86519800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr9:86517400-86535200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr9:86517600-86535000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr9:86518000-86518200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr9:86518000-86518200	ZNF genes & repeats	Spleen	Spleen
48	chr9:86518000-86518800	Strong transcription	Primary T cells from cord blood	blood
49	chr9:86518000-86518800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:86518000-86518800	Strong transcription	Fetal Intestine Large	intestine

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