Variant report

Variant	nsv892808
Chromosome Location	chr9:24883440-24953447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr9:24933214-24933331	GM12878	blood:	n/a	n/a
2	CEBPB	chr9:24949880-24950204	A549	lung:	n/a	chr9:24950042-24950053
3	CEBPB	chr9:24932626-24932820	HepG2	liver:	n/a	chr9:24932795-24932807
4	CEBPB	chr9:24949921-24950217	IMR90	lung:	n/a	chr9:24950042-24950053
5	CEBPB	chr9:24908150-24908241	HepG2	liver:	n/a	chr9:24908195-24908206
6	CEBPB	chr9:24949902-24950223	HepG2	liver:	n/a	chr9:24950042-24950053
7	CEBPB	chr9:24941624-24941826	HepG2	liver:	n/a	chr9:24941639-24941650
8	CTCF	chr9:24944391-24944449	GM13976	blood:	n/a	n/a
9	CTCF	chr9:24939205-24939236	Medullo	brain:	n/a	n/a
10	CTCF	chr9:24940644-24940673	GM20000	blood:	n/a	n/a
11	CTCF	chr9:24936640-24936790	GM06990	blood:	n/a	n/a
12	CTCF	chr9:24949414-24949490	GM20000	blood:	n/a	n/a
13	CTCF	chr9:24888354-24888427	Kidney_OC	kidney:	n/a	n/a
14	E2F4	chr9:24909759-24909892	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr9:24938785-24940197	SK-N-SH	brain:	n/a	n/a
16	EP300	chr9:24939128-24939455	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr9:24939030-24939451	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr9:24932823-24933138	GM12878	blood:	n/a	n/a
19	FAM48A	chr9:24903429-24903636	GM12878	blood:	n/a	n/a
20	FOS	chr9:24912820-24913164	MCF10A-Er-Src	breast:	n/a	n/a
21	FOS	chr9:24912819-24913101	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr9:24951670-24951927	HUVEC	blood vessel:	n/a	n/a
23	FOS	chr9:24912843-24913125	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr9:24912868-24913133	MCF10A-Er-Src	breast:	n/a	n/a
25	GATA2	chr9:24938996-24939910	SH-SY5Y	brain:	n/a	chr9:24939610-24939619 chr9:24939095-24939105 chr9:24939098-24939107
26	GATA2	chr9:24901406-24901762	SH-SY5Y	brain:	n/a	chr9:24901591-24901600
27	GATA3	chr9:24934151-24934348	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr9:24938947-24939434	SK-N-SH	brain:	n/a	chr9:24939095-24939105 chr9:24939098-24939107
29	GATA3	chr9:24928888-24929072	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr9:24940835-24941101	SH-SY5Y	brain:	n/a	n/a
31	GATA3	chr9:24938976-24939722	SH-SY5Y	brain:	n/a	chr9:24939610-24939619 chr9:24939095-24939105 chr9:24939098-24939107
32	GATA3	chr9:24938999-24939391	SK-N-SH	brain:	n/a	chr9:24939095-24939105 chr9:24939098-24939107
33	JUN	chr9:24934957-24935139	HepG2	liver:	n/a	n/a
34	JUN	chr9:24935450-24935650	HepG2	liver:	n/a	n/a
35	JUN	chr9:24948829-24948976	H1-hESC	embryonic stem cell:	n/a	n/a
36	JUND	chr9:24912842-24913045	H1-hESC	embryonic stem cell:	n/a	n/a
37	JUND	chr9:24883733-24883817	HepG2	liver:	n/a	chr9:24883780-24883788 chr9:24883779-24883788 chr9:24883778-24883789 chr9:24883781-24883788
38	MAFF	chr9:24951051-24951251	HepG2	liver:	n/a	chr9:24951132-24951150
39	MAFF	chr9:24906993-24907293	HepG2	liver:	n/a	chr9:24907125-24907143
40	MAFF	chr9:24911761-24911959	HepG2	liver:	n/a	chr9:24911918-24911936
41	MAFF	chr9:24934866-24935158	HepG2	liver:	n/a	n/a
42	MAFK	chr9:24951026-24951287	IMR90	lung:	n/a	n/a
43	MAFK	chr9:24906959-24907280	HepG2	liver:	n/a	chr9:24907126-24907141
44	MAFK	chr9:24951092-24951278	HepG2	liver:	n/a	n/a
45	MAFK	chr9:24942680-24942764	IMR90	lung:	n/a	n/a
46	MAFK	chr9:24911763-24911982	HepG2	liver:	n/a	n/a
47	MAFK	chr9:24929888-24930030	HepG2	liver:	n/a	n/a
48	MAFK	chr9:24948936-24949250	HepG2	liver:	n/a	n/a
49	MAFK	chr9:24934871-24935179	HepG2	liver:	n/a	n/a
50	MAFK	chr9:24934889-24935107	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IFT74-10	chr9:24905467-24905733	NONHSAT130497

Variant related genes	Relation type
RMRPP5	TF binding region

Extended variants
information (count: 1071 )
Associated
traits (count: 143 )

Variant overlapped rSNPs/rCNVs (count:1071 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13287152	chr9:24897802-24897803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13286873	chr9:24897809-24897810	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs199850130	chr9:24897814-24897815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13286742	chr9:24897815-24897816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201142760	chr9:24897819-24897820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150672235	chr9:24897821-24897822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577944365	chr9:24897829-24897830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs138014485	chr9:24897832-24897833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371151517	chr9:24897834-24897835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540243657	chr9:24897835-24897836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112365265	chr9:24897841-24897842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs74180324	chr9:24897845-24897846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368631500	chr9:24897848-24897849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116160579	chr9:24897871-24897872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs149571395	chr9:24897874-24897875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372617467	chr9:24897875-24897876	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7867639	chr9:24897941-24897942	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs181913043	chr9:24897943-24897944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143375894	chr9:24897954-24897955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564123122	chr9:24897956-24897957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148381978	chr9:24897960-24897961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142093390	chr9:24897973-24897974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7867650	chr9:24897974-24897975	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs146366616	chr9:24897985-24897986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377756331	chr9:24898000-24898001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115189946	chr9:24898406-24898407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186290035	chr9:24898433-24898434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78684996	chr9:24898443-24898444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538566356	chr9:24898457-24898458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558060987	chr9:24898468-24898469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571858043	chr9:24898479-24898480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533991241	chr9:24898493-24898494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554317797	chr9:24898496-24898497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539516613	chr9:24898499-24898500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149883113	chr9:24898509-24898510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543021223	chr9:24898582-24898583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556628074	chr9:24898619-24898620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190662624	chr9:24898631-24898632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181485217	chr9:24898638-24898639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs551538437	chr9:24898678-24898679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564881713	chr9:24898684-24898685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186450280	chr9:24898718-24898719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540694436	chr9:24898724-24898725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs560673437	chr9:24898728-24898729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs529769387	chr9:24898742-24898743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549352861	chr9:24898747-24898748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554577526	chr9:24898768-24898769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563337286	chr9:24898783-24898784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1926671	chr9:24898858-24898859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs721244	chr9:24898863-24898864	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:143)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Melanoma	17363583	CNVD
Adenoid cystic carcinoma	18332873	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Lung cancer	21569311	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:24897800-24898000	Enhancers	Gastric	stomach
2	chr9:24898400-24901800	Enhancers	Fetal Heart	heart
3	chr9:24901800-24907400	Weak transcription	Fetal Heart	heart
4	chr9:24907400-24907800	Enhancers	Fetal Heart	heart
5	chr9:24908400-24908800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr9:24908400-24908800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:24908800-24909200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr9:24908800-24909800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr9:24909800-24910600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr9:24909800-24911200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:24910000-24910600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr9:24910200-24911000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr9:24910400-24910600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr9:24911800-24912400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:24911800-24913600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:24931400-24932800	Enhancers	Primary B cells from cord blood	blood
17	chr9:24932600-24933200	Enhancers	GM12878-XiMat	blood
18	chr9:24932800-24933200	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr9:24933200-24935000	Enhancers	Primary B cells from cord blood	blood
20	chr9:24936200-24936600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:24936400-24936600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr9:24936600-24939000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr9:24936800-24940800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:24938800-24939600	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr9:24938800-24940000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr9:24939000-24939400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:24939000-24939600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr9:24939000-24940000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:24939200-24939600	Enhancers	Fetal Brain Female	brain
30	chr9:24939200-24940000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr9:24939200-24940000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr9:24939200-24940200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:24939400-24940200	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr9:24940000-24940800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr9:24940800-24941000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr9:24940800-24941200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr9:24941000-24941200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr9:24941000-24942000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr9:24942000-24942200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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