Variant report

Variant	nsv892216
Chromosome Location	chr9:7910934-7985651
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	ATF2	chr9:7976208-7976880	GM12878	blood:	n/a	n/a
2	ATF2	chr9:7976161-7976784	GM12878	blood:	n/a	n/a
3	ATF2	chr9:7974553-7975108	GM12878	blood:	n/a	n/a
4	BATF	chr9:7976316-7976827	GM12878	blood:	n/a	n/a
5	BCL11A	chr9:7976370-7976767	GM12878	blood:	n/a	n/a
6	BCL11A	chr9:7976366-7976776	GM12878	blood:	n/a	n/a
7	BCL11A	chr9:7967937-7968189	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr9:7976212-7976893	GM12878	blood:	n/a	n/a
9	BCLAF1	chr9:7976310-7976902	GM12878	blood:	n/a	n/a
10	BHLHE40	chr9:7976330-7976914	GM12878	blood:	n/a	n/a
11	BRCA1	chr9:7967617-7968226	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr9:7937828-7938029	HepG2	liver:	n/a	chr9:7937932-7937943
13	CHD1	chr9:7976189-7977317	GM12878	blood:	n/a	n/a
14	CHD2	chr9:7976199-7976856	GM12878	blood:	n/a	n/a
15	CREB1	chr9:7976212-7976874	GM12878	blood:	n/a	n/a
16	CREB1	chr9:7976111-7976919	GM12878	blood:	n/a	n/a
17	CTCF	chr9:7980980-7981130	RPTEC	kidney:	n/a	n/a
18	CTCF	chr9:7978020-7978170	GM12872	blood:	n/a	n/a
19	CTCF	chr9:7981085-7981273	GM12878	blood:	n/a	n/a
20	CTCF	chr9:7945720-7945804	HepG2	liver:	n/a	n/a
21	CTCF	chr9:7981088-7981135	Medullo	brain:	n/a	n/a
22	CTCF	chr9:7932600-7932750	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr9:7913400-7913451	Medullo	brain:	n/a	n/a
24	CTCF	chr9:7981000-7981150	RPTEC	kidney:	n/a	n/a
25	CTCF	chr9:7974758-7974851	Spleen_OC	spleen:	n/a	n/a
26	CUX1	chr9:7974573-7975033	GM12878	blood:	n/a	n/a
27	E2F4	chr9:7971154-7971354	MCF10A-Er-Src	breast:	n/a	n/a
28	E2F6	chr9:7936168-7936871	H1-hESC	embryonic stem cell:	n/a	n/a
29	EBF1	chr9:7976293-7976856	GM12878	blood:	n/a	n/a
30	ELF1	chr9:7976222-7976770	GM12878	blood:	n/a	n/a
31	ELK1	chr9:7974581-7974914	GM12878	blood:	n/a	n/a
32	ELK1	chr9:7977163-7977259	GM12878	blood:	n/a	n/a
33	ELK1	chr9:7976341-7976953	GM12878	blood:	n/a	n/a
34	EP300	chr9:7976321-7976714	GM12878	blood:	n/a	chr9:7976587-7976596
35	EP300	chr9:7976256-7976853	GM12878	blood:	n/a	chr9:7976587-7976596
36	EP300	chr9:7976245-7976849	GM12878	blood:	n/a	chr9:7976587-7976596
37	ETS1	chr9:7976269-7976693	GM12878	blood:	n/a	n/a
38	ETS1	chr9:7976274-7976816	GM12878	blood:	n/a	n/a
39	FAM48A	chr9:7970718-7970790	GM12878	blood:	n/a	n/a
40	FOS	chr9:7935852-7936052	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr9:7923602-7923862	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr9:7963029-7963263	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr9:7926093-7926364	HUVEC	blood vessel:	n/a	n/a
44	FOS	chr9:7971109-7971405	MCF10A-Er-Src	breast:	n/a	n/a
45	FOS	chr9:7952823-7952950	MCF10A-Er-Src	breast:	n/a	chr9:7952860-7952870 chr9:7952883-7952893 chr9:7952860-7952870 chr9:7952883-7952893 chr9:7952861-7952868 chr9:7952861-7952869 chr9:7952883-7952893 chr9:7952883-7952893 chr9:7952892-7952901 chr9:7952861-7952869
46	FOS	chr9:7923679-7923756	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr9:7935851-7936051	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr9:7971121-7971380	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr9:7963049-7963292	MCF10A-Er-Src	breast:	n/a	n/a
50	FOS	chr9:7971090-7971377	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KDM4C-7	chr9:7925578-7930367	XLOC_007279
2	lnc-C9orf123-2	chr9:7925545-7926107	XLOC_007642
3	lnc-C9orf123-2	chr9:7927003-7927686	NONHSAT130182
4	lnc-C9orf123-2	chr9:7924794-7924818	XLOC_007642
5	lnc-C9orf123-4	chr9:7960355-7960662	NONHSAT130186
6	lnc-C9orf123-4	chr9:7960830-7961080	XLOC_007643
7	lnc-C9orf123-4	chr9:7960413-7960662	XLOC_007643
8	lnc-C9orf123-7	chr9:7950830-7951080	NONHSAT130185
9	lnc-C9orf123-4	chr9:7960830-7961188	NONHSAT130186
10	lnc-C9orf123-2	chr9:7925551-7925625	NONHSAT130182
11	lnc-KDM4C-7	chr9:7960826-7961234	XLOC_007279
12	lnc-C9orf123-7	chr9:7950413-7950662	NONHSAT130185

Variant related genes	Relation type
ENSG00000226376	TF binding region
ENSG00000231902	TF binding region
FGFR1	miRNA target sites
AURKA	miRNA target sites
C7orf59	miRNA target sites
MINA	miRNA target sites

Extended variants
information (count: 3180 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:3180 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10976663	chr9:7910934-7910935	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540894822	chr9:7910941-7910942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs74414585	chr9:7910942-7910943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532949028	chr9:7910960-7910961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568289423	chr9:7910964-7910965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545309564	chr9:7910966-7910967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs116495496	chr9:7910975-7910976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531605808	chr9:7910987-7910988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549757242	chr9:7911106-7911107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568262292	chr9:7911112-7911113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12685699	chr9:7911127-7911128	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs116357238	chr9:7911152-7911153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184254518	chr9:7911188-7911189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373831441	chr9:7911207-7911208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148560865	chr9:7911212-7911213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78674403	chr9:7911221-7911222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144359547	chr9:7911236-7911237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189532249	chr9:7911243-7911244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75765996	chr9:7911256-7911257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573812573	chr9:7911308-7911309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192432692	chr9:7911325-7911326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10815713	chr9:7911344-7911345	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs114437954	chr9:7911375-7911376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184830701	chr9:7911397-7911398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189207608	chr9:7911423-7911424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530713191	chr9:7911446-7911447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368318160	chr9:7911447-7911448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543440211	chr9:7911466-7911467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75509233	chr9:7911493-7911494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375283135	chr9:7911504-7911505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372527384	chr9:7911528-7911529	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368009360	chr9:7911559-7911560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113167994	chr9:7911561-7911562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373668252	chr9:7911564-7911565	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113830735	chr9:7911565-7911566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146158491	chr9:7911581-7911582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533584599	chr9:7911605-7911606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140168716	chr9:7911647-7911648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181819167	chr9:7911678-7911679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7047580	chr9:7911716-7911717	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs186532705	chr9:7911731-7911732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7037011	chr9:7911752-7911753	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs534276301	chr9:7911764-7911765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373458422	chr9:7911769-7911770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577654702	chr9:7911796-7911797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548272716	chr9:7911808-7911809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562182880	chr9:7911822-7911823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538874801	chr9:7911827-7911828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs114131407	chr9:7911835-7911836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575189585	chr9:7911836-7911837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	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
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
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:687 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7908600-7911000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:7908600-7912600	Weak transcription	Brain Anterior Caudate	brain
3	chr9:7908800-7912200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr9:7909600-7911400	Enhancers	Thymus	Thymus
5	chr9:7910200-7912200	Enhancers	Dnd41	blood
6	chr9:7910200-7913400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:7910400-7911000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr9:7910400-7911200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr9:7910400-7911200	Enhancers	Adipose Nuclei	Adipose
10	chr9:7910400-7911200	Enhancers	Brain Hippocampus Middle	brain
11	chr9:7910400-7911200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr9:7910400-7911400	Enhancers	Primary T cells from cord blood	blood
13	chr9:7910400-7911400	Enhancers	Fetal Thymus	thymus
14	chr9:7910400-7912000	Enhancers	Brain Substantia Nigra	brain
15	chr9:7911000-7911200	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr9:7911200-7912200	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:7911400-7913000	Weak transcription	Thymus	Thymus
18	chr9:7911400-7914200	Weak transcription	Fetal Thymus	thymus
19	chr9:7912200-7912800	Enhancers	Brain Cingulate Gyrus	brain
20	chr9:7912200-7912800	Enhancers	Brain Hippocampus Middle	brain
21	chr9:7912600-7912800	Enhancers	Brain Anterior Caudate	brain
22	chr9:7913000-7914200	Enhancers	Thymus	Thymus
23	chr9:7914200-7914400	Enhancers	Fetal Thymus	thymus
24	chr9:7915800-7917000	Enhancers	Fetal Intestine Large	intestine
25	chr9:7916200-7916800	Enhancers	Small Intestine	intestine
26	chr9:7916200-7917000	Enhancers	Fetal Intestine Small	intestine
27	chr9:7916800-7918000	Weak transcription	Small Intestine	intestine
28	chr9:7917200-7917400	Enhancers	Stomach Mucosa	stomach
29	chr9:7917600-7922200	Weak transcription	Stomach Mucosa	stomach
30	chr9:7918000-7918200	Enhancers	Small Intestine	intestine
31	chr9:7921600-7921800	Enhancers	Primary B cells from cord blood	blood
32	chr9:7921600-7922200	Enhancers	Fetal Thymus	thymus
33	chr9:7921600-7922400	Enhancers	Thymus	Thymus
34	chr9:7921600-7922800	Enhancers	Primary B cells from peripheral blood	blood
35	chr9:7921600-7923000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr9:7921800-7922200	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr9:7921800-7923200	Enhancers	Fetal Brain Male	brain
38	chr9:7922000-7922400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr9:7922000-7922400	Enhancers	Brain Cingulate Gyrus	brain
40	chr9:7922000-7922400	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr9:7922000-7922400	Enhancers	Fetal Brain Female	brain
42	chr9:7922000-7922600	Enhancers	Brain Anterior Caudate	brain
43	chr9:7922000-7922600	Enhancers	Brain Substantia Nigra	brain
44	chr9:7922000-7922600	Enhancers	Fetal Heart	heart
45	chr9:7922000-7922800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr9:7922200-7922600	Enhancers	Brain Angular Gyrus	brain
47	chr9:7922200-7922600	Enhancers	Brain Hippocampus Middle	brain
48	chr9:7922200-7922600	Enhancers	Stomach Mucosa	stomach
49	chr9:7922200-7922800	Enhancers	Primary B cells from cord blood	blood
50	chr9:7922200-7930000	Weak transcription	Fetal Thymus	thymus

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