Variant report

Variant	nsv972767
Chromosome Location	chr9:86522655-86530446
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	chr9:86525950..86529688-chr9:86534412..86537158,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165115	chromatin interactions

Extended variants
information (count: 342 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1412900	chr9:86522733-86522734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146964080	chr9:86522774-86522775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs397835005	chr9:86522781-86522782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397835006	chr9:86522793-86522794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113412104	chr9:86522895-86522896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566078848	chr9:86522916-86522917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs113039638	chr9:86522974-86522975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111404694	chr9:86522981-86522982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137979027	chr9:86523005-86523006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4877812	chr9:86523007-86523008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs577711798	chr9:86523023-86523024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544979480	chr9:86523069-86523070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143991281	chr9:86523075-86523076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201660434	chr9:86523078-86523079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576762130	chr9:86523104-86523105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544147678	chr9:86523130-86523131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555302305	chr9:86523131-86523132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187922411	chr9:86523163-86523164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547698985	chr9:86523164-86523165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559791300	chr9:86523215-86523216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200142874	chr9:86523229-86523230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141383657	chr9:86523295-86523296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551708382	chr9:86523303-86523304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150544050	chr9:86523368-86523369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200513825	chr9:86523370-86523371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569974082	chr9:86523382-86523383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537684585	chr9:86523391-86523392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369129435	chr9:86523392-86523393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140491572	chr9:86523409-86523410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs372555424	chr9:86523414-86523415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548851607	chr9:86523439-86523440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375810143	chr9:86523453-86523454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532273915	chr9:86523463-86523464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144457908	chr9:86523473-86523474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567251057	chr9:86523523-86523524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147431079	chr9:86523532-86523533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369123491	chr9:86523539-86523540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs139715507	chr9:86523541-86523542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552933383	chr9:86523542-86523543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557018551	chr9:86523563-86523564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577626971	chr9:86523566-86523567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373519233	chr9:86523570-86523571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538357823	chr9:86523576-86523577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556887184	chr9:86523584-86523585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192355619	chr9:86523598-86523599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184617944	chr9:86523624-86523625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576895810	chr9:86523627-86523628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369351626	chr9:86523661-86523662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542676067	chr9:86523669-86523670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562343849	chr9:86523673-86523674	Weak 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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86461600-86535400	Weak transcription	Fetal Intestine Small	intestine
2	chr9:86461600-86535400	Weak transcription	Ovary	ovary
3	chr9:86462200-86535200	Weak transcription	Fetal Brain Female	brain
4	chr9:86462600-86535200	Weak transcription	Brain Anterior Caudate	brain
5	chr9:86481000-86535800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr9:86491000-86535200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr9:86491200-86535200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr9:86496000-86535000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:86496400-86533000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr9:86499400-86535000	Weak transcription	Fetal Kidney	kidney
11	chr9:86499800-86523200	Weak transcription	Fetal Thymus	thymus
12	chr9:86500000-86534800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:86500200-86535200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr9:86500200-86535200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:86500200-86535600	Weak transcription	Lung	lung
16	chr9:86502000-86532400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:86502600-86535000	Weak transcription	Fetal Lung	lung
18	chr9:86506400-86534800	Weak transcription	Pancreas	Pancrea
19	chr9:86508200-86535600	Weak transcription	Esophagus	oesophagus
20	chr9:86512400-86535400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:86512600-86535400	Weak transcription	Placenta	Placenta
22	chr9:86513200-86534800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:86516200-86535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr9:86517400-86535200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr9:86517600-86535000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:86518200-86530800	Weak transcription	Spleen	Spleen
27	chr9:86518800-86523800	Weak transcription	Primary T cells from cord blood	blood
28	chr9:86518800-86526400	Weak transcription	Fetal Intestine Large	intestine
29	chr9:86518800-86535000	Weak transcription	Primary B cells from cord blood	blood
30	chr9:86518800-86535000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr9:86518800-86535200	Weak transcription	Thymus	Thymus
32	chr9:86519000-86535000	Weak transcription	Fetal Muscle Leg	muscle
33	chr9:86519000-86535400	Weak transcription	Fetal Stomach	stomach
34	chr9:86520000-86533000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:86520400-86535400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:86523800-86535000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:86523800-86535000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr9:86525000-86535000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:86525400-86525600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:86525600-86535000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:86525600-86535600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:86525600-86535600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr9:86526400-86526800	Strong transcription	Fetal Intestine Large	intestine
44	chr9:86526400-86535200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr9:86526800-86528000	Weak transcription	Fetal Intestine Large	intestine
46	chr9:86527000-86527200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:86527200-86535000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr9:86528000-86528600	Strong transcription	Fetal Intestine Large	intestine
49	chr9:86528000-86529800	Weak transcription	HepG2	liver
50	chr9:86528600-86535000	Weak transcription	Fetal Intestine Large	intestine

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