Variant report

Variant	nsv972408
Chromosome Location	chr9:86583268-86584813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:83)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:2)

(count:83 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:86584052-86584087	Kidney_OC	kidney:	n/a	n/a
2	MYC	chr9:86584658-86584777	NB4	blood:	n/a	n/a
3	POLR2A	chr9:86584516-86585297	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:86584386-86586173	A549	lung:	n/a	n/a
5	POLR2A	chr9:86583811-86584045	GM12891	blood:	n/a	n/a
6	POLR2A	chr9:86584325-86587727	K562	blood:	n/a	n/a
7	POLR2A	chr9:86584379-86585320	GM12892	blood:	n/a	n/a
8	POLR2A	chr9:86583639-86584208	MCF-7	breast:	n/a	n/a
9	POLR2A	chr9:86583471-86583540	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:86584469-86584822	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr9:86584320-86587706	GM12878	blood:	n/a	n/a
12	POLR2A	chr9:86584530-86584877	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr9:86583371-86584272	GM12878	blood:	n/a	n/a
14	POLR2A	chr9:86584396-86584981	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:86583437-86583743	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr9:86584565-86584840	HCT-116	colon:	n/a	n/a
17	POLR2A	chr9:86584479-86584923	GM12892	blood:	n/a	n/a
18	POLR2A	chr9:86584548-86584759	K562	blood:	n/a	n/a
19	POLR2A	chr9:86584552-86584833	K562	blood:	n/a	n/a
20	POLR2A	chr9:86583360-86583677	GM12892	blood:	n/a	n/a
21	POLR2A	chr9:86584491-86585638	U87	brain:	n/a	n/a
22	POLR2A	chr9:86583539-86583785	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr9:86584060-86584125	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr9:86583357-86583781	GM12891	blood:	n/a	n/a
25	POLR2A	chr9:86583916-86583924	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr9:86583418-86583457	K562	blood:	n/a	n/a
27	POLR2A	chr9:86583341-86584277	GM12892	blood:	n/a	n/a
28	POLR2A	chr9:86584549-86584915	HepG2	liver:	n/a	n/a
29	POLR2A	chr9:86583360-86583848	HepG2	liver:	n/a	n/a
30	POLR2A	chr9:86584231-86584872	PFSK-1	brain:	n/a	n/a
31	POLR2A	chr9:86583816-86584223	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr9:86584472-86585227	MCF-7	breast:	n/a	n/a
33	POLR2A	chr9:86583843-86583989	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr9:86583501-86583784	U87	brain:	n/a	n/a
35	POLR2A	chr9:86584583-86584772	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr9:86584110-86584174	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr9:86584510-86584892	GM12891	blood:	n/a	n/a
38	POLR2A	chr9:86578300-86583280	GM12878	blood:	n/a	n/a
39	POLR2A	chr9:86583395-86583793	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr9:86584612-86584859	ProgFib	skin:	n/a	n/a
41	POLR2A	chr9:86584557-86584819	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr9:86584462-86584856	GM12891	blood:	n/a	n/a
43	POLR2A	chr9:86583646-86583678	GM12878	blood:	n/a	n/a
44	POLR2A	chr9:86583429-86583634	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr9:86584443-86585232	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr9:86583527-86583718	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr9:86583521-86584245	GM12891	blood:	n/a	n/a
48	POLR2A	chr9:86583895-86583992	K562	blood:	n/a	n/a
49	POLR2A	chr9:86583428-86583692	HepG2	liver:	n/a	n/a
50	POLR2A	chr9:86584434-86585205	HepG2	liver:	n/a	n/a

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7-1-3p	chr9:86584686-86584707	MIMAT0004553
hsa-miR-7-5p	chr9:86584727-86584749	MIMAT0000252_2

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HNRNPK	hsa-miR-30c-5p	chr9:86584206-86584228
2	HNRNPK	hsa-miR-21-5p	chr9:86583583-86583604

Variant related genes	Relation type
MIR7-1	TF binding region
ENSG00000235298	TF binding region
CDC5L	Mature miRNA region
SMS	Mature miRNA region
ZNF792	Mature miRNA region
CTC1	Mature miRNA region
TBC1D1	Mature miRNA region
CIRH1A	Mature miRNA region
HUWE1	Mature miRNA region

Extended variants
information (count: 68 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147225092	chr9:86583295-86583296	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs373425095	chr9:86583316-86583317	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs189989209	chr9:86583322-86583323	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373101755	chr9:86583353-86583354	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs200285431	chr9:86583397-86583398	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs554663508	chr9:86583418-86583419	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573195181	chr9:86583433-86583434	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs540115160	chr9:86583467-86583468	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs558830143	chr9:86583482-86583483	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs576600467	chr9:86583498-86583499	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs543981021	chr9:86583525-86583526	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs552890247	chr9:86583565-86583566	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs11548852	chr9:86583568-86583569	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562376322	chr9:86583592-86583593	Strong transcription Weak transcription Genic enhancers	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
15	rs182623942	chr9:86583631-86583632	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs541953651	chr9:86583680-86583681	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs35668472	chr9:86583694-86583695	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs559846334	chr9:86583710-86583711	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs572952414	chr9:86583725-86583726	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs542039401	chr9:86583764-86583765	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs527287924	chr9:86583811-86583812	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs187791877	chr9:86583884-86583885	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs571950932	chr9:86583924-86583925	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs532893283	chr9:86583925-86583926	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs551187765	chr9:86583939-86583940	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs569520360	chr9:86583944-86583945	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs536302815	chr9:86583952-86583953	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs3196513	chr9:86583966-86583967	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs555056353	chr9:86583980-86583981	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs1055950	chr9:86583982-86583983	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs140560283	chr9:86584007-86584008	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs149773802	chr9:86584023-86584024	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs7033844	chr9:86584026-86584027	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs574844183	chr9:86584030-86584031	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs14961	chr9:86584031-86584032	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs576710148	chr9:86584090-86584091	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs543934551	chr9:86584096-86584097	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs370696476	chr9:86584101-86584102	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs544139763	chr9:86584102-86584103	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs369234036	chr9:86584104-86584105	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs376145578	chr9:86584131-86584132	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs11548841	chr9:86584157-86584158	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs11548848	chr9:86584160-86584161	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs538741250	chr9:86584221-86584222	Strong transcription Weak transcription Genic enhancers	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
45	rs554180409	chr9:86584222-86584223	Strong transcription Weak transcription Genic enhancers	TF binding region miRNA target site	2 gene(s)	Overlapped CNVs	n/a
46	rs373081064	chr9:86584382-86584383	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs375224773	chr9:86584400-86584401	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs563631821	chr9:86584410-86584411	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369375241	chr9:86584434-86584435	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs574575752	chr9:86584475-86584476	Strong transcription Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86571800-86584600	Weak transcription	Spleen	Spleen
2	chr9:86572000-86586200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:86572200-86584600	Weak transcription	Ovary	ovary
4	chr9:86572200-86586600	Weak transcription	Aorta	Aorta
5	chr9:86572200-86593200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:86572400-86584000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:86572400-86584400	Weak transcription	Fetal Heart	heart
8	chr9:86572400-86584600	Weak transcription	Thymus	Thymus
9	chr9:86572400-86585800	Weak transcription	Pancreas	Pancrea
10	chr9:86572400-86586000	Weak transcription	Gastric	stomach
11	chr9:86572400-86586000	Weak transcription	Psoas Muscle	Psoas
12	chr9:86572400-86586000	Weak transcription	Right Ventricle	heart
13	chr9:86572400-86590000	Weak transcription	Right Atrium	heart
14	chr9:86572600-86583400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr9:86572600-86583600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:86572600-86584200	Weak transcription	Fetal Brain Male	brain
17	chr9:86572600-86584200	Weak transcription	Fetal Brain Female	brain
18	chr9:86572600-86584400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:86572600-86584600	Weak transcription	Small Intestine	intestine
20	chr9:86572600-86585600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr9:86573200-86585800	Weak transcription	Lung	lung
22	chr9:86577400-86583600	Weak transcription	HepG2	liver
23	chr9:86577600-86584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:86577600-86584600	Weak transcription	Colonic Mucosa	Colon
25	chr9:86577600-86586400	Weak transcription	Esophagus	oesophagus
26	chr9:86577600-86586600	Weak transcription	Stomach Mucosa	stomach
27	chr9:86577800-86586600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:86578600-86584400	Weak transcription	NHEK	skin
29	chr9:86579000-86585800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:86580200-86584400	Weak transcription	Brain Substantia Nigra	brain
31	chr9:86580200-86585800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:86580400-86584600	Weak transcription	Brain Angular Gyrus	brain
33	chr9:86580600-86588600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:86580600-86590400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:86580600-86591400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr9:86580800-86584400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr9:86580800-86586000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:86580800-86588400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr9:86580800-86588600	Strong transcription	Dnd41	blood
40	chr9:86580800-86589800	Strong transcription	HMEC	breast
41	chr9:86581000-86583400	Strong transcription	NHLF	lung
42	chr9:86581000-86583600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr9:86581000-86586800	Strong transcription	A549	lung
44	chr9:86581000-86587800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:86581000-86590000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr9:86581000-86591000	Strong transcription	Osteobl	bone
47	chr9:86581000-86591200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr9:86581000-86591200	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr9:86581200-86583600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:86581200-86584400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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