Variant report

Variant	nsv328
Chromosome Location	chr11:57744748-57789940
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	ARID3A	chr11:57746264-57746586	HepG2	liver:	n/a	n/a
2	ATF1	chr11:57786761-57786770	K562	blood:	n/a	n/a
3	CEBPB	chr11:57749159-57749354	A549	lung:	n/a	chr11:57749224-57749235
4	CEBPB	chr11:57749118-57749402	HepG2	liver:	n/a	chr11:57749224-57749235
5	CEBPB	chr11:57749143-57749344	IMR90	lung:	n/a	chr11:57749224-57749235
6	CHD2	chr11:57745446-57745460	HepG2	liver:	n/a	n/a
7	CTCF	chr11:57779628-57779656	Lung_OC	lung:	n/a	n/a
8	CTCF	chr11:57776720-57776870	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr11:57769476-57769531	GM20000	blood:	n/a	n/a
10	CTCF	chr11:57772180-57772330	HRPEpiC	eye:	n/a	n/a
11	CTCF	chr11:57773284-57773310	Lung_OC	lung:	n/a	n/a
12	CTCF	chr11:57789280-57789430	NHEK	skin:	n/a	n/a
13	CTCF	chr11:57775077-57775146	Fibrobl	skin:	n/a	n/a
14	CTCF	chr11:57768852-57768902	GM13976	blood:	n/a	n/a
15	E2F4	chr11:57774523-57774710	MCF10A-Er-Src	breast:	n/a	n/a
16	EP300	chr11:57746095-57746602	HepG2	liver:	n/a	n/a
17	EP300	chr11:57771977-57772535	HepG2	liver:	n/a	chr11:57772290-57772299 chr11:57772292-57772306
18	EP300	chr11:57746914-57747520	HepG2	liver:	n/a	n/a
19	EP300	chr11:57776871-57776917	K562	blood:	n/a	n/a
20	EP300	chr11:57746077-57746614	HepG2	liver:	n/a	n/a
21	FOS	chr11:57772018-57772586	HUVEC	blood vessel:	n/a	n/a
22	FOS	chr11:57774448-57774812	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
23	FOS	chr11:57770138-57770907	HUVEC	blood vessel:	n/a	chr11:57770319-57770330 chr11:57770678-57770687
24	FOS	chr11:57774475-57774815	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
25	FOS	chr11:57774434-57774823	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
26	FOS	chr11:57774423-57774863	HUVEC	blood vessel:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
27	FOS	chr11:57773121-57773313	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr11:57773167-57773364	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr11:57774470-57774795	MCF10A-Er-Src	breast:	n/a	chr11:57774650-57774661 chr11:57774647-57774658 chr11:57774648-57774657 chr11:57774649-57774658
30	FOSL2	chr11:57774440-57774778	HepG2	liver:	n/a	chr11:57774650-57774661 chr11:57774648-57774657 chr11:57774649-57774658
31	FOXA1	chr11:57767042-57767325	HepG2	liver:	n/a	n/a
32	FOXA1	chr11:57746113-57746597	HepG2	liver:	n/a	n/a
33	FOXA1	chr11:57747020-57747299	HepG2	liver:	n/a	n/a
34	FOXA1	chr11:57746075-57746521	HepG2	liver:	n/a	n/a
35	FOXA1	chr11:57746037-57746640	HepG2	liver:	n/a	n/a
36	FOXA1	chr11:57746037-57746653	HepG2	liver:	n/a	n/a
37	FOXA1	chr11:57779264-57779564	HepG2	liver:	n/a	chr11:57779321-57779333
38	FOXA1	chr11:57779162-57779544	HepG2	liver:	n/a	chr11:57779321-57779333
39	FOXA1	chr11:57746880-57747414	HepG2	liver:	n/a	n/a
40	FOXA1	chr11:57779146-57779535	HepG2	liver:	n/a	chr11:57779321-57779333
41	FOXA1	chr11:57767076-57767284	HepG2	liver:	n/a	n/a
42	FOXA1	chr11:57746958-57747371	HepG2	liver:	n/a	n/a
43	FOXA2	chr11:57746138-57746531	HepG2	liver:	n/a	n/a
44	FOXA2	chr11:57779193-57779561	HepG2	liver:	n/a	chr11:57779321-57779333
45	FOXA2	chr11:57746750-57747408	HepG2	liver:	n/a	n/a
46	FOXA2	chr11:57766846-57767429	A549	lung:	n/a	n/a
47	FOXA2	chr11:57767040-57767387	A549	lung:	n/a	n/a
48	GATA2	chr11:57770497-57772626	HUVEC	blood vessel:	n/a	chr11:57770677-57770687 chr11:57772312-57772322 chr11:57772288-57772298
49	HDAC2	chr11:57746100-57746549	HepG2	liver:	n/a	chr11:57746451-57746465 chr11:57746303-57746312
50	HDAC2	chr11:57745299-57745499	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57767340-57767390	HIPEpiC	eye:	n/a
2	chr11:57767340-57767390	HIPEpiC	eye:	n/a
3	chr11:57747875-57747925	Hela-S3	cervix:	n/a
4	chr11:57767340-57767390	HCF	heart:	n/a
5	chr11:57767340-57767390	AoSMC	blood vessel:	n/a
6	chr11:57747875-57747925	SKMC	muscle:	n/a
7	chr11:57767340-57767390	ovcar-3	ovarian:	n/a
8	chr11:57767340-57767390	GM06990	blood:	n/a
9	chr11:57747875-57747925	GM19239	blood:	n/a
10	chr11:57767340-57767390	ECC-1	luminal epithelium:	n/a
11	chr11:57747875-57747925	GM06990	blood:	n/a
12	chr11:57767340-57767390	K562	blood:	n/a
13	chr11:57747875-57747925	HAEpiC	amniotic membrane:	n/a
14	chr11:57747875-57747925	NH-A	brain:	n/a
15	chr11:57767340-57767390	HEEpiC	esophagus:	n/a
16	chr11:57767340-57767390	NHDF-neo	bronchial:	n/a
17	chr11:57747875-57747925	PrEC	prostate:	n/a
18	chr11:57747875-57747925	Jurkat	blood:	n/a
19	chr11:57747875-57747925	HNPCEpiC	eye:	n/a
20	chr11:57767340-57767390	HMEC	breast:	n/a
21	chr11:57767340-57767390	HPAEpiC	pulmonary alveolar:	n/a
22	chr11:57747875-57747925	MCF10A-Er-Src	breast:	n/a
23	chr11:57747875-57747925	NHBE	bronchial:	n/a
24	chr11:57747875-57747925	HL-60	blood:	n/a
25	chr11:57747875-57747925	AG04449	skin:	fetal
26	chr11:57767340-57767390	H1-hESC	embryonic stem cell:	embryo
27	chr11:57747875-57747925	BE2_C	brain:	n/a
28	chr11:57747875-57747925	GM12891	blood:	n/a
29	chr11:57747875-57747925	Hepatocyte	liver:	n/a
30	chr11:57747875-57747925	LNCaP	prostate:	n/a
31	chr11:57767340-57767390	HRE	kidney:	n/a
32	chr11:57747875-57747925	HRCEpiC	kidney:	n/a
33	chr11:57747875-57747925	BJ	skin:	n/a
34	chr11:57747875-57747925	ECC-1	luminal epithelium:	n/a
35	chr11:57767340-57767390	NH-A	brain:	n/a
36	chr11:57767340-57767390	CMK	blood:	n/a
37	chr11:57767340-57767390	HCM	heart:	n/a
38	chr11:57767340-57767390	Jurkat	blood:	n/a
39	chr11:57767340-57767390	HNPCEpiC	eye:	n/a
40	chr11:57747875-57747925	HRPEpiC	eye:	n/a
41	chr11:57767340-57767390	HCT-116	colon:	n/a
42	chr11:57767340-57767390	HRPEpiC	eye:	n/a
43	chr11:57747875-57747925	NHDF-neo	bronchial:	n/a
44	chr11:57767340-57767390	RPTEC	kidney:	n/a
45	chr11:57747875-57747925	HCM	heart:	n/a
46	chr11:57767340-57767390	SK-N-MC	brain:	n/a
47	chr11:57767340-57767390	Hela-S3	cervix:	n/a
48	chr11:57747875-57747925	HMEC	breast:	n/a
49	chr11:57747875-57747925	AoSMC	blood vessel:	n/a
50	chr11:57767340-57767390	GM12878	blood:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR9Q1-1	chr11:57772858-57773177	NONHSAT021460

Variant related genes	Relation type
OR9Q1	TF binding region
CYCSP26	TF binding region
OR9Q1	CpG island
CYCSP26	CpG island

Extended variants
information (count: 1175 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1175 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571241423	chr11:57744749-57744750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs538769277	chr11:57744802-57744803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375027853	chr11:57744861-57744862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539956343	chr11:57744900-57744901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs536511212	chr11:57744926-57744927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554920222	chr11:57744941-57744942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576276279	chr11:57744954-57744955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543620993	chr11:57744961-57744962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192973885	chr11:57744992-57744993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114086289	chr11:57744993-57744994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531481969	chr11:57745011-57745012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548311937	chr11:57745016-57745017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs545485455	chr11:57745017-57745018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2089747	chr11:57745042-57745043	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527698544	chr11:57745053-57745054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs185347626	chr11:57745054-57745055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561221615	chr11:57745090-57745091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559484201	chr11:57745093-57745094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs531918485	chr11:57745110-57745111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142220991	chr11:57745129-57745130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527300533	chr11:57745157-57745158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145922489	chr11:57745160-57745161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138965081	chr11:57745207-57745208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547349157	chr11:57745255-57745256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547481014	chr11:57745301-57745302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565507154	chr11:57745310-57745311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536276412	chr11:57745318-57745319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554633455	chr11:57745397-57745398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569956224	chr11:57745401-57745402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142910792	chr11:57745426-57745427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558420125	chr11:57745545-57745546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs938012	chr11:57745566-57745567	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545135448	chr11:57745580-57745581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72064384	chr11:57745582-57745583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs61408880	chr11:57745584-57745585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554260438	chr11:57745619-57745620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371663651	chr11:57745657-57745658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374974438	chr11:57745658-57745659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572473362	chr11:57745666-57745667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542592697	chr11:57745767-57745768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539247358	chr11:57745770-57745771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560990976	chr11:57745859-57745860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568184219	chr11:57745899-57745900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147003045	chr11:57745963-57745964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543712414	chr11:57745970-57745971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549611922	chr11:57746002-57746003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565298151	chr11:57746069-57746070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532757306	chr11:57746072-57746073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189879701	chr11:57746086-57746087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569516579	chr11:57746091-57746092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57738800-57745200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:57742600-57745200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:57742600-57745200	Weak transcription	Esophagus	oesophagus
4	chr11:57742600-57751000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:57742600-57751000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:57742800-57745000	Weak transcription	Pancreas	Pancrea
7	chr11:57742800-57745200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr11:57742800-57747000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:57743400-57745000	Weak transcription	HSMM	muscle
10	chr11:57743600-57745000	Weak transcription	HSMMtube	muscle
11	chr11:57744000-57746400	Enhancers	HepG2	liver
12	chr11:57744200-57745000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:57744200-57745600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr11:57744400-57745200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr11:57744600-57745600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr11:57744600-57745600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:57744600-57745800	Enhancers	Fetal Muscle Leg	muscle
18	chr11:57744800-57745800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:57744800-57746200	Enhancers	Fetal Muscle Trunk	muscle
20	chr11:57745000-57745400	Enhancers	Spleen	Spleen
21	chr11:57745000-57745600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr11:57745000-57745600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr11:57745000-57745600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:57745000-57745800	Enhancers	HSMM	muscle
25	chr11:57745000-57747400	Enhancers	Pancreas	Pancrea
26	chr11:57745000-57748200	Enhancers	HSMMtube	muscle
27	chr11:57745200-57745400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr11:57745200-57745400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:57745200-57745400	Enhancers	Esophagus	oesophagus
30	chr11:57745200-57745400	Enhancers	Left Ventricle	heart
31	chr11:57745200-57745600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr11:57745200-57745600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:57745200-57745600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:57745200-57745600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr11:57745200-57745600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:57745400-57747400	Enhancers	Gastric	stomach
37	chr11:57745400-57751200	Weak transcription	Left Ventricle	heart
38	chr11:57745600-57746600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:57745600-57746600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:57745600-57750200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:57745800-57746200	Weak transcription	HSMM	muscle
42	chr11:57745800-57746600	Enhancers	Stomach Mucosa	stomach
43	chr11:57745800-57750800	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:57746200-57748000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:57746200-57748000	Enhancers	HSMM	muscle
46	chr11:57746400-57747000	Flanking Active TSS	HepG2	liver
47	chr11:57746600-57746800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr11:57746600-57747400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr11:57746800-57747400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr11:57746800-57747800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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