Variant report

Variant	nsv8540
Chromosome Location	chr9:86458587-86470369
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr9:86464911-86465156	GM12878	blood:	n/a	n/a
2	BCL11A	chr9:86464843-86465149	GM12878	blood:	n/a	n/a
3	CTCF	chr9:86461178-86461266	Lung_OC	lung:	n/a	n/a
4	EP300	chr9:86464964-86465054	GM12878	blood:	n/a	n/a
5	FOSL2	chr9:86462584-86462827	HepG2	liver:	n/a	n/a
6	GABPA	chr9:86463870-86464015	GM12878	blood:	n/a	n/a
7	PAX5	chr9:86463696-86464040	GM12878	blood:	n/a	n/a
8	PAX5	chr9:86463689-86463987	GM12878	blood:	n/a	n/a
9	SP1	chr9:86464742-86465241	GM12878	blood:	n/a	n/a
10	SP1	chr9:86464797-86465209	GM12878	blood:	n/a	n/a
11	SPI1	chr9:86464847-86465191	GM12891	blood:	n/a	chr9:86465001-86465010 chr9:86464998-86465011 chr9:86464999-86465012
12	SPI1	chr9:86464847-86465174	GM12878	blood:	n/a	chr9:86465001-86465010 chr9:86464998-86465011 chr9:86464999-86465012

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:86468995..86471879-chr9:86534830..86536450,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RMI1-5	chr9:86464287-86464506	ENSG00000231616.4
2	lnc-RMI1-5	chr9:86464323-86464506	ENSG00000231616.4
3	lnc-RMI1-5	chr9:86469971-86470092	ENSG00000231616.4
4	lnc-RMI1-5	chr9:86463801-86463870	ENSG00000231616.4
5	lnc-RMI1-5	chr9:86463725-86463870	ENSG00000231616.4
6	lnc-RMI1-5	chr9:86463753-86463870	ENSG00000231616.4
7	lnc-RMI1-5	chr9:86464287-86464506	ENSG00000231616.4
8	lnc-RMI1-5	chr9:86462573-86462823	ENSG00000231616.4

No data

Variant related genes	Relation type
ENSG00000231616	TF binding region
ENSG00000165115	chromatin interactions

Extended variants
information (count: 555 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:555 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550715746	chr9:86458588-86458589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73463303	chr9:86458613-86458614	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs118117153	chr9:86458631-86458632	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548126186	chr9:86458653-86458654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11140269	chr9:86458663-86458664	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149734759	chr9:86458669-86458670	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541425364	chr9:86458700-86458701	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558211668	chr9:86458757-86458758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185909322	chr9:86458761-86458762	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537805066	chr9:86458774-86458775	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145711553	chr9:86458798-86458799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11140270	chr9:86458806-86458807	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542940833	chr9:86458837-86458838	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561601687	chr9:86458845-86458846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547100094	chr9:86458872-86458873	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146585265	chr9:86458893-86458894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540851046	chr9:86458907-86458908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143349689	chr9:86458969-86458970	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190897410	chr9:86458993-86458994	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373019121	chr9:86459006-86459007	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376295583	chr9:86459040-86459041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575126491	chr9:86459052-86459053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543634927	chr9:86459089-86459090	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375059484	chr9:86459171-86459172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551564351	chr9:86459174-86459175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562738053	chr9:86459180-86459181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150494896	chr9:86459184-86459185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114229610	chr9:86459218-86459219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113075437	chr9:86459220-86459221	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142715922	chr9:86459222-86459223	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568291928	chr9:86459225-86459226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551959797	chr9:86459228-86459229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570478591	chr9:86459256-86459257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537538893	chr9:86459261-86459262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556261927	chr9:86459263-86459264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574334882	chr9:86459264-86459265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59174820	chr9:86459266-86459267	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs1759496	chr9:86459267-86459268	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201675850	chr9:86459273-86459274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183135360	chr9:86459283-86459284	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7026752	chr9:86459351-86459352	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187492747	chr9:86459397-86459398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367666974	chr9:86459407-86459408	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540789707	chr9:86459435-86459436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs7026885	chr9:86459488-86459489	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138037168	chr9:86459497-86459498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143489063	chr9:86459504-86459505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559491169	chr9:86459532-86459533	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7026905	chr9:86459549-86459550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7030386	chr9:86459576-86459577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86447800-86461200	Weak transcription	Fetal Brain Female	brain
2	chr9:86447800-86470800	Weak transcription	Brain Germinal Matrix	brain
3	chr9:86448600-86458800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:86452000-86467800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:86452200-86464000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:86453400-86461200	Weak transcription	Fetal Intestine Large	intestine
7	chr9:86454400-86461200	Weak transcription	Primary T cells from cord blood	blood
8	chr9:86455400-86461200	Weak transcription	Dnd41	blood
9	chr9:86455400-86461400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr9:86456000-86458600	Weak transcription	Fetal Intestine Small	intestine
11	chr9:86456000-86458600	Weak transcription	Fetal Stomach	stomach
12	chr9:86456000-86461000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:86456000-86463600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:86456200-86466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:86456600-86472600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr9:86456800-86463200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:86457000-86464000	Weak transcription	Left Ventricle	heart
18	chr9:86457400-86461000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr9:86457400-86461200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr9:86457400-86461200	Weak transcription	Brain Anterior Caudate	brain
21	chr9:86457400-86461200	Weak transcription	Fetal Lung	lung
22	chr9:86457400-86461200	Weak transcription	Fetal Muscle Leg	muscle
23	chr9:86457400-86461200	Weak transcription	Lung	lung
24	chr9:86457400-86461400	Weak transcription	Fetal Thymus	thymus
25	chr9:86457400-86461600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr9:86457400-86461800	Weak transcription	Fetal Brain Male	brain
27	chr9:86457400-86464200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:86457400-86468400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:86457400-86469000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr9:86457600-86464000	Weak transcription	Pancreas	Pancrea
31	chr9:86458000-86463600	Weak transcription	Esophagus	oesophagus
32	chr9:86458600-86459400	Strong transcription	Fetal Intestine Small	intestine
33	chr9:86458600-86462800	Strong transcription	Fetal Stomach	stomach
34	chr9:86458800-86459200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:86459000-86460800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr9:86459000-86461200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:86459200-86460800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr9:86459400-86461000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:86459400-86461000	Weak transcription	Fetal Intestine Small	intestine
40	chr9:86459400-86461200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:86459400-86461200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:86459400-86461200	Weak transcription	Liver	Liver
43	chr9:86459400-86461200	Weak transcription	Gastric	stomach
44	chr9:86459600-86461200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:86459600-86461200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr9:86459600-86461200	Weak transcription	Brain Angular Gyrus	brain
47	chr9:86459600-86461200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:86459600-86461200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr9:86459600-86461200	Weak transcription	Fetal Kidney	kidney
50	chr9:86459600-86461200	Weak transcription	Placenta	Placenta

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