Variant report

Variant	esv3440485
Chromosome Location	chr9:86461957-86464705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr9:86462584-86462827	HepG2	liver:	n/a	n/a
2	GABPA	chr9:86463870-86464015	GM12878	blood:	n/a	n/a
3	PAX5	chr9:86463689-86463987	GM12878	blood:	n/a	n/a
4	PAX5	chr9:86463696-86464040	GM12878	blood:	n/a	n/a

No data

(count:7 , 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	chr9:86464287-86464506	ENSG00000231616.4
4	lnc-RMI1-5	chr9:86462573-86462823	ENSG00000231616.4
5	lnc-RMI1-5	chr9:86463753-86463870	ENSG00000231616.4
6	lnc-RMI1-5	chr9:86463801-86463870	ENSG00000231616.4
7	lnc-RMI1-5	chr9:86463725-86463870	ENSG00000231616.4

No data

Variant related genes	Relation type
ENSG00000231616	TF binding region

Extended variants
information (count: 166 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:166 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189598298	chr9:86461958-86461959	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs35481855	chr9:86461959-86461960	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs75416800	chr9:86461966-86461967	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs542230098	chr9:86461982-86461983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs140048258	chr9:86461988-86461989	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs2780142	chr9:86461989-86461990	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs118022825	chr9:86462072-86462073	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs34998775	chr9:86462085-86462086	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35992705	chr9:86462091-86462092	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs142267620	chr9:86462093-86462094	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs181091712	chr9:86462120-86462121	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs35724757	chr9:86462132-86462133	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs34345309	chr9:86462148-86462149	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532567784	chr9:86462149-86462150	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs34331943	chr9:86462157-86462158	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs35050170	chr9:86462163-86462164	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs34789036	chr9:86462176-86462177	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537419755	chr9:86462198-86462199	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs34340934	chr9:86462211-86462212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375518838	chr9:86462224-86462225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186033629	chr9:86462232-86462233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77244555	chr9:86462237-86462238	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs563861078	chr9:86462299-86462300	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188007420	chr9:86462307-86462308	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546425735	chr9:86462354-86462355	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs3119921	chr9:86462359-86462360	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528236453	chr9:86462372-86462373	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553334914	chr9:86462379-86462380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577742361	chr9:86462409-86462410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547853474	chr9:86462410-86462411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544895550	chr9:86462461-86462462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150041870	chr9:86462474-86462475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575252277	chr9:86462492-86462493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181977411	chr9:86462498-86462499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560542949	chr9:86462499-86462500	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528116292	chr9:86462506-86462507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541310890	chr9:86462585-86462586	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs12002052	chr9:86462602-86462603	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs371577468	chr9:86462616-86462617	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs113101681	chr9:86462654-86462655	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs564514404	chr9:86462662-86462663	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs376457423	chr9:86462691-86462692	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs559824436	chr9:86462729-86462730	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs550415347	chr9:86462780-86462781	Weak transcription Strong transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs533542828	chr9:86462830-86462831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200846534	chr9:86462858-86462859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376903379	chr9:86462859-86462860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111828002	chr9:86462860-86462861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563763431	chr9:86462861-86462862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367996066	chr9:86462878-86462879	Weak 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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86447800-86470800	Weak transcription	Brain Germinal Matrix	brain
2	chr9:86452000-86467800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr9:86452200-86464000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:86456000-86463600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:86456200-86466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:86456600-86472600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:86456800-86463200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr9:86457000-86464000	Weak transcription	Left Ventricle	heart
9	chr9:86457400-86464200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr9:86457400-86468400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr9:86457400-86469000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr9:86457600-86464000	Weak transcription	Pancreas	Pancrea
13	chr9:86458000-86463600	Weak transcription	Esophagus	oesophagus
14	chr9:86458600-86462800	Strong transcription	Fetal Stomach	stomach
15	chr9:86459600-86464000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:86459800-86464200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr9:86459800-86466400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr9:86460000-86474000	Weak transcription	Adipose Nuclei	Adipose
19	chr9:86460200-86463800	Weak transcription	Right Ventricle	heart
20	chr9:86460400-86462800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:86460400-86465400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr9:86460600-86462800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr9:86460600-86462800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:86460600-86462800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr9:86460600-86462800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:86460600-86462800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr9:86460600-86463000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:86460600-86463000	Weak transcription	Primary B cells from cord blood	blood
29	chr9:86460600-86463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:86460600-86465400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr9:86460600-86518200	Weak transcription	Thymus	Thymus
32	chr9:86460800-86462200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr9:86460800-86462600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr9:86460800-86463200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:86461000-86462600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr9:86461200-86462000	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:86461200-86462000	Strong transcription	Spleen	Spleen
38	chr9:86461200-86462200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:86461200-86462200	Strong transcription	Liver	Liver
40	chr9:86461200-86462200	Strong transcription	Fetal Brain Female	brain
41	chr9:86461200-86462200	Strong transcription	Fetal Muscle Leg	muscle
42	chr9:86461200-86462200	Strong transcription	Lung	lung
43	chr9:86461200-86462400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:86461200-86462600	Strong transcription	Primary T cells from cord blood	blood
45	chr9:86461200-86462600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr9:86461200-86462600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:86461200-86462600	Strong transcription	Brain Angular Gyrus	brain
48	chr9:86461200-86462600	Strong transcription	Brain Anterior Caudate	brain
49	chr9:86461200-86462600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr9:86461200-86462600	Strong transcription	Fetal Kidney	kidney

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