Variant report

Variant	nsv614762
Chromosome Location	chr9:86625243-86700593
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:86669576-86669976	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:86626639-86626694	K562	blood:	n/a	n/a
3	BACH1	chr9:86669741-86669772	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr9:86664623-86664866	GM12878	blood:	n/a	n/a
5	BCL3	chr9:86669538-86669804	GM12878	blood:	n/a	n/a
6	BHLHE40	chr9:86691048-86691355	K562	blood:	n/a	n/a
7	BHLHE40	chr9:86691087-86691287	HepG2	liver:	n/a	n/a
8	CBX3	chr9:86685563-86685798	K562	blood:	n/a	n/a
9	CBX3	chr9:86656790-86657126	K562	blood:	n/a	n/a
10	CBX3	chr9:86656810-86657022	K562	blood:	n/a	n/a
11	CEBPB	chr9:86626654-86626763	HepG2	liver:	n/a	chr9:86626675-86626686
12	CEBPB	chr9:86626586-86626810	IMR90	lung:	n/a	chr9:86626675-86626686
13	CEBPB	chr9:86625488-86625801	K562	blood:	n/a	chr9:86625622-86625633
14	CEBPB	chr9:86669528-86669868	HepG2	liver:	n/a	n/a
15	CEBPB	chr9:86669613-86669768	HepG2	liver:	n/a	n/a
16	CEBPB	chr9:86625521-86625775	A549	lung:	n/a	chr9:86625622-86625633
17	CEBPB	chr9:86638309-86638583	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr9:86638306-86638584	K562	blood:	n/a	n/a
19	CEBPB	chr9:86626533-86626802	K562	blood:	n/a	chr9:86626675-86626686
20	CEBPB	chr9:86634753-86634773	K562	blood:	n/a	n/a
21	CEBPB	chr9:86625488-86625673	HepG2	liver:	n/a	chr9:86625622-86625633
22	CHD2	chr9:86685589-86685878	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD2	chr9:86685570-86685904	HepG2	liver:	n/a	n/a
24	CHD2	chr9:86685568-86685955	K562	blood:	n/a	n/a
25	CHD2	chr9:86669667-86669717	HepG2	liver:	n/a	n/a
26	CTCF	chr9:86674800-86674950	MCF-7	breast:	n/a	n/a
27	CTCF	chr9:86674836-86674960	MCF-7	breast:	n/a	n/a
28	CTCF	chr9:86674820-86674970	MCF-7	breast:	n/a	n/a
29	CTCF	chr9:86657575-86657676	GM10248	blood:	n/a	n/a
30	CTCF	chr9:86674816-86674982	MCF-7	breast:	n/a	n/a
31	CTCF	chr9:86653447-86653500	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr9:86694073-86694138	Lung_OC	lung:	n/a	n/a
33	CTCF	chr9:86637552-86637593	Kidney_OC	kidney:	n/a	n/a
34	E2F6	chr9:86685425-86685924	H1-hESC	embryonic stem cell:	n/a	n/a
35	E2F6	chr9:86685566-86685766	K562	blood:	n/a	n/a
36	EBF1	chr9:86664481-86665005	GM12878	blood:	n/a	n/a
37	ELK1	chr9:86683861-86684157	K562	blood:	n/a	n/a
38	EP300	chr9:86656809-86656994	K562	blood:	n/a	n/a
39	EP300	chr9:86669638-86669759	HepG2	liver:	n/a	n/a
40	EP300	chr9:86669513-86669875	HepG2	liver:	n/a	n/a
41	EP300	chr9:86670419-86670734	HepG2	liver:	n/a	chr9:86670616-86670626
42	ESR1	chr9:86671126-86671486	T-47D	breast:	n/a	chr9:86671324-86671341 chr9:86671323-86671340
43	ESR1	chr9:86671119-86671539	T-47D	breast:	n/a	chr9:86671324-86671341 chr9:86671323-86671340
44	ESR1	chr9:86671155-86671394	ECC-1	luminal epithelium:	n/a	chr9:86671324-86671341 chr9:86671323-86671340
45	ESR1	chr9:86671095-86671531	T-47D	breast:	n/a	chr9:86671324-86671341 chr9:86671323-86671340
46	ESR1	chr9:86671112-86671453	T-47D	breast:	n/a	chr9:86671324-86671341 chr9:86671323-86671340
47	ESR1	chr9:86671142-86671370	T-47D	breast:	n/a	chr9:86671324-86671341 chr9:86671323-86671340
48	FOS	chr9:86642251-86642356	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr9:86680634-86680857	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr9:86677687-86677878	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:86693838..86695435-chr9:86695774..86698504,2	MCF-7	breast:
2	chr9:86663038..86665601-chr9:86690355..86692187,2	MCF-7	breast:
3	chr9:86671448..86673966-chr9:86679778..86681333,2	MCF-7	breast:
4	chr9:86594149..86596782-chr9:86685649..86687855,2	K562	blood:
5	chr9:86621080..86624737-chr9:86626977..86631058,3	MCF-7	breast:
6	chr9:86663038..86665601-chr9:86690355..86692187,2	MCF-7	breast:
7	chr9:86638379..86640240-chr9:86737757..86739291,2	K562	blood:
8	chr9:86593417..86595634-chr9:86660719..86663662,2	MCF-7	breast:
9	chr9:86674506..86675321-chr9:86876055..86876581,2	MCF-7	breast:
10	chr9:86541635..86544345-chr9:86665548..86667347,2	K562	blood:
11	chr9:86671448..86673966-chr9:86679778..86681333,2	MCF-7	breast:
12	chr9:86693838..86695435-chr9:86695774..86698504,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RMI1-2	chr9:86698867-86699316	ENSG00000227463.2
2	lnc-RMI1-2	chr9:86697386-86697691	ENSG00000227463.2
3	lnc-RMI1-2	chr9:86697386-86697691	ENSG00000227463.1
4	lnc-RMI1-2	chr9:86692821-86693002	ENSG00000227463.2
5	lnc-RMI1-2	chr9:86696853-86696907	ENSG00000227463.1
6	lnc-RMI1-2	chr9:86678358-86678444	NONHSAT132769
7	lnc-RMI1-2	chr9:86682210-86682342	ENSG00000227463.2
8	lnc-RMI1-2	chr9:86678358-86678444	ENSG00000227463.2
9	lnc-RMI1-8	chr9:86693499-86693772	NONHSAT132772
10	lnc-RMI1-2	chr9:86690343-86690763	ENSG00000227463.2
11	lnc-RMI1-2	chr9:86690576-86690763	ENSG00000227463.1
12	lnc-RMI1-2	chr9:86696853-86696924	ENSG00000227463.2

No data

Variant related genes	Relation type
ENSG00000270166	TF binding region
ENSG00000227463	TF binding region
ENSG00000165119	chromatin interactions
ENSG00000178966	chromatin interactions

Extended variants
information (count: 1281 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:1281 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6559758	chr9:86625243-86625244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537804060	chr9:86625327-86625328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372238870	chr9:86625330-86625331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183901805	chr9:86625340-86625341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144282442	chr9:86625377-86625378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146620127	chr9:86625384-86625385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376677881	chr9:86625441-86625442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189447077	chr9:86625522-86625523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7856484	chr9:86625536-86625537	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs140118019	chr9:86625584-86625585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568773398	chr9:86625602-86625603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115250811	chr9:86625603-86625604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561365759	chr9:86625628-86625629	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs573327525	chr9:86625631-86625632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371220167	chr9:86625840-86625841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542100389	chr9:86625878-86625879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs6559759	chr9:86625895-86625896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182302867	chr9:86625898-86625899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548915785	chr9:86625917-86625918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552739101	chr9:86625941-86625942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564383303	chr9:86625955-86625956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143936410	chr9:86625970-86625971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151318882	chr9:86625991-86625992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550171222	chr9:86626011-86626012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568442205	chr9:86626017-86626018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140712179	chr9:86626136-86626137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150077450	chr9:86626173-86626174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187433029	chr9:86626180-86626181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369765841	chr9:86626250-86626251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201719183	chr9:86626300-86626301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56397779	chr9:86626307-86626308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539213623	chr9:86626395-86626396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145457083	chr9:86626438-86626439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191803478	chr9:86626452-86626453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536723418	chr9:86626454-86626455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369604325	chr9:86626468-86626469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555073927	chr9:86626504-86626505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368380940	chr9:86626559-86626560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535038670	chr9:86626613-86626614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372810696	chr9:86626626-86626627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181587388	chr9:86626628-86626629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573290734	chr9:86626658-86626659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10780640	chr9:86626672-86626673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs10868080	chr9:86626769-86626770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572708619	chr9:86626783-86626784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558460391	chr9:86626799-86626800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571746590	chr9:86626800-86626801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369701791	chr9:86626822-86626823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76737646	chr9:86626936-86626937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564724981	chr9:86626939-86626940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86596400-86632400	Weak transcription	Spleen	Spleen
2	chr9:86597400-86628800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:86602400-86627200	Weak transcription	Left Ventricle	heart
4	chr9:86604000-86626200	Weak transcription	Pancreas	Pancrea
5	chr9:86617800-86625800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr9:86618200-86625400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr9:86618400-86625400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr9:86625400-86625800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr9:86625800-86626000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr9:86627800-86628000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr9:86628800-86629000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr9:86632400-86632600	Enhancers	Spleen	Spleen
13	chr9:86632400-86632800	Enhancers	Lung	lung
14	chr9:86648200-86648800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr9:86658600-86660200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:86659200-86660600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:86659600-86660600	Enhancers	HepG2	liver
18	chr9:86660000-86661000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr9:86660000-86661000	Enhancers	Placenta	Placenta
20	chr9:86660200-86660800	Enhancers	Spleen	Spleen
21	chr9:86660400-86660800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:86660600-86661000	Enhancers	H1 Cell Line	embryonic stem cell
23	chr9:86660600-86661000	Flanking Active TSS	HepG2	liver
24	chr9:86660600-86661200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr9:86660600-86661200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr9:86660800-86661200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr9:86661000-86661200	Enhancers	HepG2	liver
28	chr9:86668600-86669000	Enhancers	Ovary	ovary
29	chr9:86668600-86669600	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr9:86668800-86669200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr9:86668800-86671400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr9:86669000-86669400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr9:86669000-86669400	Weak transcription	Ovary	ovary
34	chr9:86669000-86670600	Enhancers	HepG2	liver
35	chr9:86669200-86669800	Enhancers	Liver	Liver
36	chr9:86669200-86673000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr9:86669400-86669600	Enhancers	Ovary	ovary
38	chr9:86669400-86669800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr9:86669600-86669800	Enhancers	Fetal Muscle Leg	muscle
40	chr9:86669600-86669800	Enhancers	Left Ventricle	heart
41	chr9:86669600-86670000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr9:86669600-86670200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:86669600-86671200	Weak transcription	Ovary	ovary
44	chr9:86669800-86671000	Weak transcription	Fetal Muscle Leg	muscle
45	chr9:86670000-86671000	Weak transcription	Left Ventricle	heart
46	chr9:86670200-86673400	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr9:86671000-86671400	Enhancers	Left Ventricle	heart
48	chr9:86671000-86673400	Enhancers	Fetal Muscle Leg	muscle
49	chr9:86671200-86671600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:86671200-86671600	Enhancers	Ovary	ovary

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