Variant report

Variant	esv3357089
Chromosome Location	chr9:96431831-96436129
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96431258..96433932-chr9:96436519..96439062,2	MCF-7	breast:
2	chr9:96434785..96437496-chr9:96439550..96441266,2	K562	blood:
3	chr9:96434785..96437618-chr9:96438061..96441050,2	K562	blood:
4	chr9:96426069..96427804-chr9:96431386..96433017,2	K562	blood:
5	chr9:96431320..96433030-chr9:96436808..96438741,2	MCF-7	breast:
6	chr9:96434498..96437281-chr9:96438650..96440857,2	MCF-7	breast:

Extended variants
information (count: 215 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370545926	chr9:96431839-96431840	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs77710603	chr9:96431847-96431848	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs3750362	chr9:96431859-96431860	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs556574386	chr9:96431885-96431886	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs577713128	chr9:96431910-96431911	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs538789207	chr9:96431911-96431912	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs553736686	chr9:96431917-96431918	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572136734	chr9:96431920-96431921	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs3750363	chr9:96431929-96431930	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs147186854	chr9:96431936-96431937	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs192693195	chr9:96431946-96431947	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs13293450	chr9:96431958-96431959	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372130093	chr9:96432022-96432023	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544071188	chr9:96432031-96432032	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs562710275	chr9:96432075-96432076	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs533041933	chr9:96432093-96432094	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs551528174	chr9:96432125-96432126	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs3750364	chr9:96432133-96432134	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368646674	chr9:96432171-96432172	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs184517999	chr9:96432200-96432201	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs549611737	chr9:96432214-96432215	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187969374	chr9:96432233-96432234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538576698	chr9:96432318-96432319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549953928	chr9:96432341-96432342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148702893	chr9:96432430-96432431	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs76499753	chr9:96432437-96432438	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs142214651	chr9:96432476-96432477	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572373527	chr9:96432489-96432490	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376849266	chr9:96432564-96432565	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555593250	chr9:96432565-96432566	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs1963	chr9:96432597-96432598	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs560815686	chr9:96432671-96432672	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115345675	chr9:96432729-96432730	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151144354	chr9:96432735-96432736	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545089722	chr9:96432755-96432756	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181953452	chr9:96432771-96432772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184576574	chr9:96432809-96432810	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548698964	chr9:96432839-96432840	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112499459	chr9:96432874-96432875	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560979868	chr9:96432916-96432917	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531897185	chr9:96432942-96432943	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374952869	chr9:96433030-96433031	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550090458	chr9:96433072-96433073	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571481828	chr9:96433122-96433123	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs59044538	chr9:96433128-96433129	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189274881	chr9:96433141-96433142	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374770087	chr9:96433157-96433158	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10761255	chr9:96433184-96433185	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs565210251	chr9:96433189-96433190	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536789867	chr9:96433203-96433204	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Mental retardation	21693067	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:242 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96401000-96438600	Weak transcription	Psoas Muscle	Psoas
2	chr9:96402600-96433600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr9:96405400-96433200	Strong transcription	Fetal Intestine Small	intestine
4	chr9:96406200-96438600	Weak transcription	Small Intestine	intestine
5	chr9:96410400-96432600	Strong transcription	Rectal Mucosa Donor 31	rectum
6	chr9:96410400-96433200	Strong transcription	Gastric	stomach
7	chr9:96412600-96439400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr9:96412600-96442800	Weak transcription	NHDF-Ad	bronchial
9	chr9:96412600-96445000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:96412800-96442800	Weak transcription	HMEC	breast
11	chr9:96412800-96443600	Weak transcription	Stomach Mucosa	stomach
12	chr9:96413000-96432000	Strong transcription	Placenta	Placenta
13	chr9:96413000-96442000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr9:96413000-96444800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr9:96413200-96440800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:96413400-96441600	Weak transcription	GM12878-XiMat	blood
17	chr9:96414200-96434800	Weak transcription	Right Atrium	heart
18	chr9:96414400-96435800	Weak transcription	HSMM	muscle
19	chr9:96416400-96443400	Weak transcription	HepG2	liver
20	chr9:96417800-96439000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr9:96419200-96440000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:96420800-96435600	Weak transcription	A549	lung
23	chr9:96422000-96439800	Weak transcription	Osteobl	bone
24	chr9:96424600-96433400	Strong transcription	Ovary	ovary
25	chr9:96424800-96432400	Strong transcription	Spleen	Spleen
26	chr9:96424800-96432600	Strong transcription	Thymus	Thymus
27	chr9:96424800-96433200	Strong transcription	Fetal Stomach	stomach
28	chr9:96424800-96434000	Strong transcription	Pancreas	Pancrea
29	chr9:96424800-96440800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr9:96425600-96433200	Strong transcription	Lung	lung
31	chr9:96426000-96441800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr9:96426200-96434800	Weak transcription	Fetal Heart	heart
33	chr9:96426200-96434800	Weak transcription	Fetal Kidney	kidney
34	chr9:96426200-96435200	Weak transcription	Primary B cells from cord blood	blood
35	chr9:96426200-96435200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr9:96426200-96436000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:96426200-96436200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:96426200-96438000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr9:96426200-96438000	Weak transcription	HSMMtube	muscle
40	chr9:96426200-96438400	Weak transcription	Fetal Lung	lung
41	chr9:96426200-96438600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:96426200-96442200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr9:96426400-96438800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:96426400-96439400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:96426400-96439800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:96426400-96441600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr9:96426600-96435600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr9:96426800-96435400	Weak transcription	Brain Substantia Nigra	brain
49	chr9:96428400-96438600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:96428600-96432600	Weak transcription	Fetal Thymus	thymus

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