Variant report

Variant	nsv613694
Chromosome Location	chr9:17236376-17377629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59651978..59652576-chr9:17247861..17248361,2	MCF-7	breast:
2	chr9:17317781..17319396-chr9:17320003..17322475,2	MCF-7	breast:
3	chr9:17317781..17319396-chr9:17320003..17322475,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SH3GL2-3	chr9:17322212-17322433	uc_253_+
2	lnc-BNC2-3	chr9:17322212-17322433	uc_253_-

Extended variants
information (count: 7051 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:7051 , 50 per page) page: 1 2 3 4 5 6 7 ... 142

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3814139	chr9:17236376-17236377	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs187511632	chr9:17236380-17236381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564357249	chr9:17236393-17236394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369623562	chr9:17236395-17236396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373496001	chr9:17236401-17236402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200875712	chr9:17236436-17236437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs149714525	chr9:17236485-17236486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200620921	chr9:17236494-17236495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369799276	chr9:17236498-17236499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372607866	chr9:17236505-17236506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546764618	chr9:17236521-17236522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139314048	chr9:17236527-17236528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375690505	chr9:17236551-17236552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190873433	chr9:17236565-17236566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372902135	chr9:17236568-17236569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373170505	chr9:17236587-17236588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199694979	chr9:17236598-17236599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs568884823	chr9:17236637-17236638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184160780	chr9:17236704-17236705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551791727	chr9:17236733-17236734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547183990	chr9:17236757-17236758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs534171518	chr9:17236799-17236800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs187541801	chr9:17236864-17236865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567449551	chr9:17236916-17236917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537971723	chr9:17236923-17236924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574612391	chr9:17236924-17236925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577960402	chr9:17236986-17236987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75270810	chr9:17237032-17237033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150018405	chr9:17237086-17237087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs192743665	chr9:17237093-17237094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540458194	chr9:17237097-17237098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370227622	chr9:17237125-17237126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145173648	chr9:17237130-17237131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529062525	chr9:17237171-17237172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs371158841	chr9:17237176-17237177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs562523655	chr9:17237254-17237255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200110806	chr9:17237264-17237265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201775711	chr9:17237272-17237273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200498355	chr9:17237273-17237274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545803352	chr9:17237299-17237300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184629923	chr9:17237330-17237331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572877614	chr9:17237353-17237354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs61531389	chr9:17237399-17237400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs59168012	chr9:17237401-17237402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397822270	chr9:17237403-17237404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187178657	chr9:17237405-17237406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148729576	chr9:17237434-17237435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551350071	chr9:17237472-17237473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11366075	chr9:17237477-17237478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398087178	chr9:17237485-17237486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:802 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17207800-17246400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:17217600-17247000	Weak transcription	Left Ventricle	heart
3	chr9:17222200-17242000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:17223200-17242200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr9:17223600-17279400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:17224400-17242800	Weak transcription	Colon Smooth Muscle	Colon
7	chr9:17224600-17242200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr9:17225200-17242000	Weak transcription	Fetal Lung	lung
9	chr9:17225400-17246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:17226200-17241000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr9:17228800-17237600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:17229800-17251600	Weak transcription	HSMM	muscle
13	chr9:17231400-17242200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr9:17232000-17241800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:17233400-17237600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:17234400-17242000	Weak transcription	Fetal Muscle Leg	muscle
17	chr9:17234600-17249400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:17235000-17249600	Weak transcription	Dnd41	blood
19	chr9:17235400-17237000	Enhancers	Liver	Liver
20	chr9:17235800-17249400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr9:17236000-17236400	Enhancers	Ovary	ovary
22	chr9:17236400-17262000	Weak transcription	Ovary	ovary
23	chr9:17236800-17242600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr9:17237000-17242000	Weak transcription	Liver	Liver
25	chr9:17237600-17239400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:17237600-17243000	Weak transcription	NH-A	brain
27	chr9:17238400-17239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr9:17238400-17242400	Weak transcription	Fetal Stomach	stomach
29	chr9:17239000-17239200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:17239200-17242000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:17239400-17240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:17240600-17248400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:17240800-17248600	Weak transcription	NHDF-Ad	bronchial
34	chr9:17241000-17246600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:17241000-17247000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:17241000-17249800	Weak transcription	Fetal Heart	heart
37	chr9:17241200-17241400	ZNF genes & repeats	Right Ventricle	heart
38	chr9:17241200-17242200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr9:17241200-17249000	Weak transcription	Gastric	stomach
40	chr9:17241400-17249400	Weak transcription	Right Ventricle	heart
41	chr9:17241800-17242800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr9:17242000-17242400	Weak transcription	Aorta	Aorta
43	chr9:17242000-17242600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:17242000-17242600	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr9:17242000-17243000	Strong transcription	Liver	Liver
46	chr9:17242000-17243200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
47	chr9:17242000-17243200	Strong transcription	Fetal Lung	lung
48	chr9:17242200-17242400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:17242200-17242400	Weak transcription	Pancreas	Pancrea
50	chr9:17242200-17242600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood

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