Variant report

Variant	nsv892610
Chromosome Location	chr9:14622952-14654900
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:14627684..14629345-chr9:14693335..14694855,2	MCF-7	breast:
2	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:
3	chr9:14650294..14652492-chr9:14659969..14661655,2	K562	blood:
4	chr9:14465217..14466121-chr9:14652305..14653436,3	K562	blood:
5	chr9:14465253..14465899-chr9:14652688..14653342,2	MCF-7	breast:
6	chr9:14594419..14596910-chr9:14651251..14653446,2	K562	blood:
7	chr9:14442114..14442886-chr9:14652552..14653366,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175893	chromatin interactions

Extended variants
information (count: 1501 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1501 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7874535	chr9:14622952-14622953	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184105882	chr9:14622972-14622973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530842445	chr9:14623005-14623006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80255812	chr9:14623031-14623032	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs74730320	chr9:14623073-14623074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547395646	chr9:14623089-14623090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72704911	chr9:14623136-14623137	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs201463561	chr9:14623148-14623149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200679461	chr9:14623155-14623156	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539366812	chr9:14623157-14623158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566541808	chr9:14623165-14623166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188838605	chr9:14623170-14623171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552169950	chr9:14623183-14623184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141696020	chr9:14623203-14623204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs537352236	chr9:14623216-14623217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192917974	chr9:14623238-14623239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555903776	chr9:14623273-14623274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs79625618	chr9:14623297-14623298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542295144	chr9:14623304-14623305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117337790	chr9:14623351-14623352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536434881	chr9:14623393-14623394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550226082	chr9:14623405-14623406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573307771	chr9:14623413-14623414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545137411	chr9:14623418-14623419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184139719	chr9:14623421-14623422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78099625	chr9:14623440-14623441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544561127	chr9:14623446-14623447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555162165	chr9:14623459-14623460	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150873136	chr9:14623508-14623509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201339505	chr9:14623539-14623540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs529947749	chr9:14623587-14623588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546797510	chr9:14623599-14623600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74966743	chr9:14623601-14623602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532245902	chr9:14623611-14623612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7848690	chr9:14623612-14623613	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs71322000	chr9:14623644-14623645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs398010348	chr9:14623657-14623658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537438253	chr9:14623663-14623664	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540626033	chr9:14623671-14623672	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs398010349	chr9:14623677-14623678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34420387	chr9:14623678-14623679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs59018182	chr9:14623686-14623687	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139378331	chr9:14623725-14623726	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189511898	chr9:14623731-14623732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145658915	chr9:14623763-14623764	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112987503	chr9:14623819-14623820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577579581	chr9:14623830-14623831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536518826	chr9:14623861-14623862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77319437	chr9:14623875-14623876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553545752	chr9:14623896-14623897	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Intellectual disability	22102821	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
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14586800-14629800	Weak transcription	Primary T cells from cord blood	blood
2	chr9:14594800-14633400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial
4	chr9:14596600-14627200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr9:14596600-14627600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr9:14596600-14629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:14596600-14629800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:14596600-14630600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:14596600-14630600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr9:14596600-14630800	Weak transcription	Aorta	Aorta
11	chr9:14596600-14630800	Weak transcription	Fetal Intestine Small	intestine
12	chr9:14596600-14630800	Weak transcription	HSMMtube	muscle
13	chr9:14596600-14634000	Weak transcription	Gastric	stomach
14	chr9:14596600-14653600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr9:14597000-14655000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr9:14597800-14633600	Weak transcription	Pancreas	Pancrea
17	chr9:14598200-14633200	Weak transcription	Fetal Stomach	stomach
18	chr9:14599800-14654000	Weak transcription	Fetal Heart	heart
19	chr9:14601400-14636800	Weak transcription	Small Intestine	intestine
20	chr9:14604600-14631000	Weak transcription	GM12878-XiMat	blood
21	chr9:14605600-14630000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr9:14605600-14654800	Weak transcription	HSMM	muscle
23	chr9:14605800-14634000	Weak transcription	Esophagus	oesophagus
24	chr9:14608400-14627000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:14609600-14628200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:14610000-14627200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:14610200-14654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:14611200-14632800	Weak transcription	Placenta	Placenta
29	chr9:14612400-14630600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:14612800-14641200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr9:14613600-14654600	Weak transcription	Fetal Kidney	kidney
32	chr9:14614800-14627600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr9:14615000-14630800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr9:14616800-14630400	Weak transcription	Fetal Brain Female	brain
35	chr9:14617000-14630600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:14617200-14630600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr9:14617200-14634000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr9:14617200-14646000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr9:14617400-14627200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:14617400-14634200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr9:14617800-14627200	Weak transcription	Brain Anterior Caudate	brain
42	chr9:14618200-14627400	Weak transcription	Brain Substantia Nigra	brain
43	chr9:14618200-14627400	Weak transcription	Fetal Lung	lung
44	chr9:14619200-14630200	Weak transcription	Fetal Brain Male	brain
45	chr9:14619400-14629200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr9:14619400-14630000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:14619400-14630000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr9:14619400-14630000	Weak transcription	Adipose Nuclei	Adipose
49	chr9:14619400-14630200	Weak transcription	Fetal Intestine Large	intestine
50	chr9:14619400-14630200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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