Variant report

Variant	esv1002297
Chromosome Location	chr9:85351450-85360245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:85355800-85355950	MCF-7	breast:	n/a	n/a
2	FAM48A	chr9:85357193-85357358	GM12878	blood:	n/a	n/a
3	JUN	chr9:85357420-85357620	K562	blood:	n/a	n/a
4	POLR2A	chr9:85350955-85351494	H1-neurons	neurons:	n/a	n/a
5	REST	chr9:85350886-85351597	H1-neurons	neurons:	n/a	n/a
6	REST	chr9:85350888-85351775	H1-neurons	neurons:	n/a	n/a
7	RFX5	chr9:85355961-85356122	GM12878	blood:	n/a	n/a
8	ZNF217	chr9:85354937-85355243	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:85348158..85350736-chr9:85359906..85361652,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASEF-2	chr9:85358982-85359707	NONHSAT132726

Variant related genes	Relation type
RPS6P12	TF binding region

Extended variants
information (count: 331 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:331 , 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	rs187365088	chr9:85351475-85351476	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377574833	chr9:85351501-85351502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531470058	chr9:85351521-85351522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191953710	chr9:85351535-85351536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs61258447	chr9:85351539-85351540	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373578668	chr9:85351549-85351550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528914617	chr9:85351560-85351561	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543906315	chr9:85351574-85351575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368220889	chr9:85351644-85351645	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565841033	chr9:85351666-85351667	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs151302241	chr9:85351683-85351684	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539718766	chr9:85351695-85351696	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557706767	chr9:85351731-85351732	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569498070	chr9:85351745-85351746	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs117363021	chr9:85351751-85351752	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554054077	chr9:85351755-85351756	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7869543	chr9:85351757-85351758	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs184079503	chr9:85351784-85351785	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552474390	chr9:85351898-85351899	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574558073	chr9:85351983-85351984	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200089469	chr9:85352000-85352001	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535489581	chr9:85352007-85352008	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554088335	chr9:85352008-85352009	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572691371	chr9:85352012-85352013	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188662766	chr9:85352064-85352065	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192663902	chr9:85352098-85352099	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576733261	chr9:85352128-85352129	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544000751	chr9:85352183-85352184	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566067690	chr9:85352186-85352187	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562699489	chr9:85352254-85352255	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs368456460	chr9:85352327-85352328	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561778567	chr9:85352346-85352347	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184647615	chr9:85352350-85352351	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547126922	chr9:85352366-85352367	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559289104	chr9:85352370-85352371	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62579133	chr9:85352422-85352423	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551628069	chr9:85352461-85352462	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62579134	chr9:85352535-85352536	Genic enhancers Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140127754	chr9:85352554-85352555	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs548726761	chr9:85352561-85352562	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568217123	chr9:85352571-85352572	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536605150	chr9:85352628-85352629	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535939986	chr9:85352692-85352693	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553913365	chr9:85352725-85352726	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189164842	chr9:85352746-85352747	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539423231	chr9:85352770-85352771	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs150301396	chr9:85352792-85352793	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377401266	chr9:85352824-85352825	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201073037	chr9:85352860-85352861	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570428747	chr9:85352868-85352869	Genic enhancers Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Astrocytoma	22246337	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:85347200-85352200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr9:85347200-85353000	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr9:85347600-85353400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:85348200-85361400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr9:85349000-85351600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr9:85349000-85352400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr9:85349400-85352400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr9:85349400-85352400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr9:85349800-85361600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr9:85350000-85364600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:85351000-85356000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr9:85351400-85351600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr9:85351400-85352000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr9:85351600-85352000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:85351600-85352000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:85351600-85353000	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:85352000-85352200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr9:85352000-85352200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr9:85352000-85352200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr9:85352000-85352600	Enhancers	Colon Smooth Muscle	Colon
21	chr9:85352200-85352800	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr9:85352200-85361200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr9:85352200-85364800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr9:85352400-85354800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr9:85352400-85355600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr9:85352400-85361600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr9:85352800-85353000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
28	chr9:85353000-85353200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:85353000-85355200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr9:85353000-85361600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:85353200-85361600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr9:85354800-85355400	Enhancers	Placenta	Placenta
33	chr9:85354800-85358400	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr9:85355200-85359800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr9:85355600-85356000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr9:85356000-85356200	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr9:85356000-85358200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr9:85356200-85364400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr9:85358200-85358400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr9:85358200-85361400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr9:85358400-85358800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:85358400-85359000	Enhancers	Primary hematopoietic stem cells	blood
43	chr9:85358400-85361600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr9:85358800-85359000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr9:85359000-85359400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr9:85359000-85360800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr9:85359000-85362400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr9:85359200-85361400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr9:85359400-85359800	Enhancers	Primary hematopoietic stem cells	blood
50	chr9:85359400-85359800	Enhancers	Fetal Thymus	thymus

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