Variant report

Variant	nsv553370
Chromosome Location	chr11:6144998-6164700
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	CEBPB	chr11:6154999-6155280	HepG2	liver:	n/a	chr11:6155123-6155134
2	CEBPB	chr11:6145352-6145544	A549	lung:	n/a	n/a
3	CTCF	chr11:6161192-6161259	GM13977	blood:	n/a	n/a
4	CTCF	chr11:6153103-6153157	Kidney_OC	kidney:	n/a	n/a
5	EP300	chr11:6161637-6161731	K562	blood:	n/a	n/a
6	FOS	chr11:6149113-6149486	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:6149122-6149455	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:6148956-6149585	HUVEC	blood vessel:	n/a	n/a
9	FOS	chr11:6149104-6149486	MCF10A-Er-Src	breast:	n/a	n/a
10	FOS	chr11:6149138-6149344	MCF10A-Er-Src	breast:	n/a	n/a
11	GATA2	chr11:6148552-6149769	HUVEC	blood vessel:	n/a	chr11:6149279-6149286 chr11:6149653-6149663 chr11:6149652-6149668 chr11:6149274-6149288 chr11:6149656-6149663 chr11:6149279-6149286 chr11:6149656-6149663 chr11:6149655-6149665 chr11:6149654-6149666 chr11:6149275-6149291 chr11:6149272-6149293 chr11:6149279-6149286 chr11:6149656-6149663
12	JUN	chr11:6149120-6149520	HUVEC	blood vessel:	n/a	n/a
13	JUN	chr11:6164037-6164089	H1-hESC	embryonic stem cell:	n/a	n/a
14	JUND	chr11:6145309-6145586	HepG2	liver:	n/a	n/a
15	KAP1	chr11:6164285-6164869	HEK293	kidney:	n/a	n/a
16	MAFF	chr11:6153697-6154037	HepG2	liver:	n/a	chr11:6153850-6153868
17	MAFF	chr11:6153698-6154016	K562	blood:	n/a	chr11:6153850-6153868
18	MAFK	chr11:6158235-6158401	IMR90	lung:	n/a	n/a
19	MAFK	chr11:6153676-6154048	HepG2	liver:	n/a	chr11:6153852-6153867
20	MAFK	chr11:6153705-6154044	H1-hESC	embryonic stem cell:	n/a	chr11:6153852-6153867
21	MAFK	chr11:6153737-6154010	Hela-S3	cervix:	n/a	chr11:6153852-6153867
22	MAFK	chr11:6153710-6154027	K562	blood:	n/a	chr11:6153852-6153867
23	MAFK	chr11:6153697-6154041	HepG2	liver:	n/a	chr11:6153852-6153867
24	MAFK	chr11:6153681-6154045	IMR90	lung:	n/a	chr11:6153852-6153867
25	MAFK	chr11:6158223-6158408	HepG2	liver:	n/a	n/a
26	MAX	chr11:6164247-6164447	NB4	blood:	n/a	chr11:6164345-6164355 chr11:6164311-6164321
27	MYC	chr11:6149246-6149446	MCF10A-Er-Src	breast:	n/a	n/a
28	MYC	chr11:6150432-6150614	NB4	blood:	n/a	n/a
29	MYC	chr11:6153336-6153556	MCF10A-Er-Src	breast:	n/a	n/a
30	MYC	chr11:6150890-6151141	NB4	blood:	n/a	n/a
31	NFYB	chr11:6156540-6156713	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:6164356-6164361	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:6149187-6149456	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:6149934-6150405	A549	lung:	n/a	n/a
35	REST	chr11:6150859-6151250	HL-60	blood:	n/a	n/a
36	SETDB1	chr11:6163962-6165218	U2OS	brain:	n/a	n/a
37	SETDB1	chr11:6159715-6160208	U2OS	brain:	n/a	n/a
38	SPI1	chr11:6150819-6151331	HL-60	blood:	n/a	n/a
39	SPI1	chr11:6145402-6145909	HL-60	blood:	n/a	n/a
40	STAT3	chr11:6149229-6149440	MCF10A-Er-Src	breast:	n/a	n/a
41	STAT3	chr11:6157845-6157852	MCF10A-Er-Src	breast:	n/a	n/a
42	ZNF274	chr11:6164293-6164733	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
OR56B3P	TF binding region

Extended variants
information (count: 876 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:876 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4758391	chr11:6144998-6144999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537358932	chr11:6144999-6145000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558850664	chr11:6145020-6145021	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs113746725	chr11:6145036-6145037	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs368094087	chr11:6145058-6145059	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs77067600	chr11:6145063-6145064	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549231738	chr11:6145103-6145104	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569051028	chr11:6145135-6145136	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553124826	chr11:6145136-6145137	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs557571575	chr11:6145153-6145154	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs10431012	chr11:6145191-6145192	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs186262970	chr11:6145203-6145204	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs376820336	chr11:6145214-6145215	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs551668029	chr11:6145216-6145217	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs571410046	chr11:6145249-6145250	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189502248	chr11:6145280-6145281	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs553090956	chr11:6145308-6145309	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs61877844	chr11:6145321-6145322	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs78363138	chr11:6145323-6145324	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs79992968	chr11:6145324-6145325	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs573042047	chr11:6145332-6145333	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs144267347	chr11:6145439-6145440	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs565190994	chr11:6145447-6145448	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs150750563	chr11:6145449-6145450	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561013773	chr11:6145508-6145509	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs139113135	chr11:6145511-6145512	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112373883	chr11:6145624-6145625	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs72900422	chr11:6145633-6145634	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs140077232	chr11:6145695-6145696	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs369028481	chr11:6145726-6145727	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs542280634	chr11:6145730-6145731	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs372617807	chr11:6145739-6145740	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs530880141	chr11:6145743-6145744	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs552604208	chr11:6145791-6145792	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs575455707	chr11:6145812-6145813	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs570804116	chr11:6145863-6145864	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs181841641	chr11:6145864-6145865	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534902307	chr11:6145872-6145873	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs144921241	chr11:6145892-6145893	Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs139734850	chr11:6145911-6145912	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs144518086	chr11:6145920-6145921	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs58318735	chr11:6145936-6145937	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574896753	chr11:6145958-6145959	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78175099	chr11:6145959-6145960	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs185990034	chr11:6145970-6145971	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs147740586	chr11:6146060-6146061	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190399477	chr11:6146062-6146063	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs578183501	chr11:6146068-6146069	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs59462357	chr11:6146082-6146083	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs146596414	chr11:6146090-6146091	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6144400-6145000	Enhancers	Monocytes-CD14+_RO01746	blood
2	chr11:6144400-6146400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:6145000-6146400	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr11:6145000-6146400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:6146400-6146600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr11:6146400-6147800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr11:6146400-6148600	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr11:6146600-6148400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:6147800-6150200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr11:6148400-6150000	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr11:6148600-6153000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:6148800-6150000	Enhancers	HUVEC	blood vessel
13	chr11:6149400-6150200	Weak transcription	Gastric	stomach
14	chr11:6150000-6150800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:6150000-6150800	Enhancers	Spleen	Spleen
16	chr11:6150000-6152200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:6150200-6150400	Enhancers	Gastric	stomach
18	chr11:6150200-6150800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr11:6150200-6151600	Enhancers	Primary B cells from cord blood	blood
20	chr11:6150400-6151000	Enhancers	Adipose Nuclei	Adipose
21	chr11:6150400-6155200	Weak transcription	Gastric	stomach
22	chr11:6150600-6151200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:6150800-6152000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr11:6152000-6152400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr11:6152200-6153000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr11:6152400-6153000	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr11:6153000-6158600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr11:6155200-6155600	Enhancers	Gastric	stomach
29	chr11:6158600-6159000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:6158600-6159200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr11:6159200-6162400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr11:6160800-6164800	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr11:6161000-6161200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr11:6161200-6162400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:6162400-6162600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr11:6162400-6164000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:6162600-6163000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr11:6163000-6164200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr11:6163600-6164800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:6163800-6165000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:6164000-6165400	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr11:6164200-6164400	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr11:6164400-6164800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr11:6164400-6164800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr11:6164600-6165400	Active TSS	H1 Cell Line	embryonic stem cell
46	chr11:6164600-6165400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr11:6164600-6165400	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr11:6164600-6165400	Active TSS	iPS-20b Cell Line	embryonic stem cell

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