Variant report

Variant	nsv482131
Chromosome Location	chr9:97080478-97090926
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:250)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:250 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr9:97086602-97086682	HepG2	liver:	n/a	n/a
2	CTCF	chr9:97080649-97080814	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr9:97087908-97088151	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr9:97087986-97088090	MCF-7	breast:	n/a	n/a
5	CTCF	chr9:97080675-97080795	Gliobla	brain:	n/a	n/a
6	CTCF	chr9:97088014-97088119	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr9:97080658-97080802	NHEK	skin:	n/a	n/a
8	CTCF	chr9:97080607-97080852	GM12891	blood:	n/a	n/a
9	CTCF	chr9:97080677-97080738	LNCaP	prostate:	n/a	n/a
10	CTCF	chr9:97087958-97088107	MCF-7	breast:	n/a	n/a
11	CTCF	chr9:97080681-97080805	GM19239	blood:	n/a	n/a
12	CTCF	chr9:97087980-97088130	A549	lung:	n/a	n/a
13	CTCF	chr9:97080689-97080802	Medullo	brain:	n/a	n/a
14	CTCF	chr9:97080628-97080813	MCF-7	breast:	n/a	n/a
15	CTCF	chr9:97080669-97080779	Fibrobl	skin:	n/a	n/a
16	CTCF	chr9:97080559-97080885	K562	blood:	n/a	n/a
17	CTCF	chr9:97088000-97088150	HRPEpiC	eye:	n/a	n/a
18	CTCF	chr9:97080724-97080729	GM13976	blood:	n/a	n/a
19	CTCF	chr9:97087946-97088145	K562	blood:	n/a	n/a
20	CTCF	chr9:97080733-97080831	GM13976	blood:	n/a	n/a
21	CTCF	chr9:97080635-97080816	HepG2	liver:	n/a	n/a
22	CTCF	chr9:97087980-97088130	WERI-Rb-1	eye:	n/a	n/a
23	CTCF	chr9:97087960-97088110	HepG2	liver:	n/a	n/a
24	CTCF	chr9:97080617-97080864	GM19238	blood:	n/a	n/a
25	CTCF	chr9:97080685-97080820	GM10248	blood:	n/a	n/a
26	CTCF	chr9:97080717-97080788	LNCaP	prostate:	n/a	n/a
27	CTCF	chr9:97080628-97080852	GM19240	blood:	n/a	n/a
28	CTCF	chr9:97088020-97088170	HRPEpiC	eye:	n/a	n/a
29	CTCF	chr9:97080679-97080774	ProgFib	skin:	n/a	n/a
30	CTCF	chr9:97080677-97080826	GM10266	blood:	n/a	n/a
31	CTCF	chr9:97088129-97088190	GM10248	blood:	n/a	n/a
32	CTCF	chr9:97080625-97080829	A549	lung:	n/a	n/a
33	CTCF	chr9:97080615-97080872	K562	blood:	n/a	n/a
34	CTCF	chr9:97085480-97085630	HepG2	liver:	n/a	n/a
35	CTCF	chr9:97080671-97080827	GM13977	blood:	n/a	n/a
36	CTCF	chr9:97080677-97080684	GM10248	blood:	n/a	n/a
37	CTCF	chr9:97087992-97088089	MCF-7	breast:	n/a	n/a
38	CTCF	chr9:97080690-97080819	HUVEC	blood vessel:	n/a	n/a
39	CTCF	chr9:97080641-97080865	GM12878	blood:	n/a	n/a
40	CTCF	chr9:97088002-97088064	HepG2	liver:	n/a	n/a
41	CTCF	chr9:97080654-97080809	MCF-7	breast:	n/a	n/a
42	CTCF	chr9:97080665-97080789	MCF-7	breast:	n/a	n/a
43	CTCF	chr9:97088011-97088070	GM12892	blood:	n/a	n/a
44	CTCF	chr9:97080618-97080852	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr9:97087867-97088237	K562	blood:	n/a	n/a
46	CTCF	chr9:97080687-97080787	A549	lung:	n/a	n/a
47	CTCF	chr9:97080599-97080852	GM12892	blood:	n/a	n/a
48	CTCF	chr9:97080638-97080810	MCF-7	breast:	n/a	n/a
49	CTCF	chr9:97080558-97080926	K562	blood:	n/a	n/a
50	CTCF	chr9:97080630-97080850	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:97090861-97090911	U87	brain:	n/a
2	chr9:97090861-97090911	ECC-1	luminal epithelium:	n/a
3	chr9:97090861-97090911	CMK	blood:	n/a
4	chr9:97090861-97090911	Jurkat	blood:	n/a
5	chr9:97090861-97090911	HEK293	kidney:	embryo
6	chr9:97090861-97090911	BE2_C	brain:	n/a
7	chr9:97090861-97090911	AG04450	lung:	fetal
8	chr9:97090861-97090911	H1-hESC	embryonic stem cell:	embryo
9	chr9:97090861-97090911	GM12891	blood:	n/a
10	chr9:97090861-97090911	NH-A	brain:	n/a
11	chr9:97090861-97090911	PFSK-1	brain:	n/a
12	chr9:97090861-97090911	AoSMC	blood vessel:	n/a
13	chr9:97090861-97090911	NHBE	bronchial:	n/a
14	chr9:97090861-97090911	GM06990	blood:	n/a
15	chr9:97090861-97090911	IMR90	lung:	fetal
16	chr9:97090861-97090911	K562	blood:	n/a
17	chr9:97090861-97090911	HL-60	blood:	n/a
18	chr9:97090861-97090911	HCPEpiC	choroid plexus:	n/a
19	chr9:97090861-97090911	MCF-7	breast:	n/a
20	chr9:97090861-97090911	ovcar-3	ovarian:	n/a
21	chr9:97090861-97090911	HNPCEpiC	eye:	n/a
22	chr9:97090861-97090911	BJ	skin:	n/a
23	chr9:97090861-97090911	Hepatocyte	liver:	n/a
24	chr9:97090861-97090911	LNCaP	prostate:	n/a
25	chr9:97090861-97090911	ProgFib	skin:	n/a
26	chr9:97090861-97090911	SK-N-SH	brain:	n/a
27	chr9:97090861-97090911	Caco-2	colon:	n/a
28	chr9:97090861-97090911	HRCEpiC	kidney:	n/a
29	chr9:97090861-97090911	HPAEpiC	pulmonary alveolar:	n/a
30	chr9:97090861-97090911	GM12878	blood:	n/a
31	chr9:97090861-97090911	RPTEC	kidney:	n/a
32	chr9:97090861-97090911	A549	lung:	n/a
33	chr9:97090861-97090911	Hela-S3	cervix:	n/a
34	chr9:97090861-97090911	GM12892	blood:	n/a
35	chr9:97090861-97090911	HIPEpiC	eye:	n/a
36	chr9:97090861-97090911	HEEpiC	esophagus:	n/a
37	chr9:97090861-97090911	AG04449	skin:	fetal
38	chr9:97090861-97090911	AG10803	skin:	n/a
39	chr9:97090861-97090911	HMEC	breast:	n/a
40	chr9:97090861-97090911	HCT-116	colon:	n/a
41	chr9:97090861-97090911	HRE	kidney:	n/a
42	chr9:97090861-97090911	GM19239	blood:	n/a
43	chr9:97090861-97090911	HRPEpiC	eye:	n/a
44	chr9:97090861-97090911	SK-N-SH_RA	brain:	n/a
45	chr9:97090861-97090911	PANC-1	pancreas:	n/a
46	chr9:97090861-97090911	T-47D	breast:	n/a
47	chr9:97090861-97090911	NT2-D1	testis:	n/a
48	chr9:97090861-97090911	HepG2	liver:	n/a
49	chr9:97090861-97090911	AG09309	skin:	n/a
50	chr9:97090861-97090911	SK-N-MC	brain:	n/a

No data

Variant related genes	Relation type
ENSG00000232063	TF binding region
NUTM2F	TF binding region
ENSG00000232063	CpG island
NUTM2F	CpG island

Extended variants
information (count: 344 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:344 , 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	rs7026729	chr9:97083206-97083207	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182051654	chr9:97083216-97083217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148461503	chr9:97083221-97083222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530499022	chr9:97083242-97083243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533805171	chr9:97083245-97083246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548636758	chr9:97083250-97083251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555165892	chr9:97083302-97083303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573735635	chr9:97083336-97083337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543984347	chr9:97083397-97083398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556214378	chr9:97083422-97083423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577612544	chr9:97083428-97083429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567362265	chr9:97083479-97083480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370198532	chr9:97083486-97083487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535474674	chr9:97083495-97083496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545000710	chr9:97083505-97083506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560802376	chr9:97083514-97083515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201933017	chr9:97083518-97083519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543314392	chr9:97083566-97083567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187102839	chr9:97083567-97083568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531891891	chr9:97083585-97083586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550044555	chr9:97083614-97083615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571707947	chr9:97083616-97083617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191483725	chr9:97083617-97083618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183547293	chr9:97083625-97083626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547368931	chr9:97083641-97083642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546581312	chr9:97083654-97083655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565711190	chr9:97083702-97083703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533841029	chr9:97083703-97083704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555204587	chr9:97083717-97083718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567390650	chr9:97083721-97083722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369639680	chr9:97083751-97083752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538042027	chr9:97083775-97083776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556014876	chr9:97083804-97083805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577651971	chr9:97083805-97083806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545089810	chr9:97083815-97083816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553823757	chr9:97083868-97083869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572024399	chr9:97083916-97083917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543351572	chr9:97083920-97083921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571513335	chr9:97083924-97083925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561614856	chr9:97084011-97084012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs531855239	chr9:97084053-97084054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543971842	chr9:97084086-97084087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78953266	chr9:97084115-97084116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs532493599	chr9:97084124-97084125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547442188	chr9:97084143-97084144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2479583	chr9:97084165-97084166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185519961	chr9:97084174-97084175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549055163	chr9:97084213-97084214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567530430	chr9:97084228-97084229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2257584	chr9:97084250-97084251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97083200-97094600	Weak transcription	Right Atrium	heart
2	chr9:97084600-97085000	Enhancers	K562	blood
3	chr9:97084600-97086000	Active TSS	HepG2	liver
4	chr9:97086000-97086200	Flanking Active TSS	HepG2	liver
5	chr9:97086200-97086800	Enhancers	HepG2	liver
6	chr9:97086800-97088000	Weak transcription	HepG2	liver
7	chr9:97088000-97088400	Active TSS	HepG2	liver
8	chr9:97088000-97089200	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr9:97089000-97089200	Enhancers	Primary B cells from peripheral blood	blood
10	chr9:97089200-97089800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:97089200-97090200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr9:97089800-97091000	Enhancers	Primary B cells from peripheral blood	blood
13	chr9:97090200-97091000	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr9:97090600-97091000	Enhancers	Placenta	Placenta

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