Variant report

Variant	esv3431554
Chromosome Location	chr11:56467767-56507904
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	chr11:56483721-56484112	GM12878	blood:	n/a	n/a
2	BATF	chr11:56483790-56484093	GM12878	blood:	n/a	chr11:56483931-56483942
3	BATF	chr11:56483821-56484012	GM12878	blood:	n/a	chr11:56483931-56483942
4	CEBPB	chr11:56484117-56484430	A549	lung:	n/a	chr11:56484335-56484346
5	CEBPB	chr11:56484043-56484454	MCF-7	breast:	n/a	chr11:56484335-56484346
6	CEBPB	chr11:56488019-56488253	HepG2	liver:	n/a	chr11:56488133-56488144
7	CEBPB	chr11:56484051-56484477	HepG2	liver:	n/a	chr11:56484335-56484346
8	CTCF	chr11:56474228-56474311	NHEK	skin:	n/a	n/a
9	CTCF	chr11:56474300-56474450	NHEK	skin:	n/a	n/a
10	CTCF	chr11:56474180-56474330	RPTEC	kidney:	n/a	n/a
11	CTCF	chr11:56467931-56468027	NHEK	skin:	n/a	n/a
12	CTCF	chr11:56474267-56474348	LNCaP	prostate:	n/a	n/a
13	CTCF	chr11:56468172-56468236	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:56474220-56474370	HMEC	breast:	n/a	n/a
15	CTCF	chr11:56468180-56468330	NHEK	skin:	n/a	n/a
16	CTCF	chr11:56503914-56503917	GM13976	blood:	n/a	n/a
17	E2F4	chr11:56499382-56499464	MCF10A-Er-Src	breast:	n/a	n/a
18	E2F4	chr11:56474942-56475400	MCF10A-Er-Src	breast:	n/a	n/a
19	E2F4	chr11:56497632-56497733	MCF10A-Er-Src	breast:	n/a	n/a
20	EBF1	chr11:56473507-56473814	GM12878	blood:	n/a	n/a
21	EBF1	chr11:56487797-56488049	GM12878	blood:	n/a	n/a
22	EBF1	chr11:56473473-56473811	GM12878	blood:	n/a	n/a
23	EBF1	chr11:56483827-56484411	GM12878	blood:	n/a	n/a
24	EP300	chr11:56483857-56484121	GM12878	blood:	n/a	n/a
25	FOS	chr11:56473975-56474172	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr11:56481849-56482004	MCF10A-Er-Src	breast:	n/a	chr11:56481888-56481895 chr11:56481915-56481923 chr11:56481886-56481896 chr11:56481887-56481896 chr11:56481885-56481897 chr11:56481886-56481895
27	FOS	chr11:56483779-56484465	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr11:56473998-56474295	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr11:56481719-56482039	MCF10A-Er-Src	breast:	n/a	chr11:56481888-56481895 chr11:56481915-56481923 chr11:56481886-56481896 chr11:56481887-56481896 chr11:56481885-56481897 chr11:56481886-56481895
30	FOS	chr11:56467656-56468035	MCF10A-Er-Src	breast:	n/a	chr11:56467827-56467836
31	FOS	chr11:56467658-56467972	MCF10A-Er-Src	breast:	n/a	chr11:56467827-56467836
32	FOS	chr11:56483786-56484457	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr11:56481727-56482033	MCF10A-Er-Src	breast:	n/a	chr11:56481888-56481895 chr11:56481915-56481923 chr11:56481886-56481896 chr11:56481887-56481896 chr11:56481885-56481897 chr11:56481886-56481895
34	FOS	chr11:56473975-56474296	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr11:56483786-56484380	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr11:56467657-56468036	MCF10A-Er-Src	breast:	n/a	chr11:56467827-56467836
37	FOS	chr11:56483797-56484366	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr11:56481699-56482053	MCF10A-Er-Src	breast:	n/a	chr11:56481888-56481895 chr11:56481915-56481923 chr11:56481886-56481896 chr11:56481887-56481896 chr11:56481885-56481897 chr11:56481886-56481895
39	FOXA1	chr11:56486148-56486514	HepG2	liver:	n/a	n/a
40	HEY1	chr11:56486102-56486556	HepG2	liver:	n/a	n/a
41	HEY1	chr11:56486236-56486408	HepG2	liver:	n/a	n/a
42	IRF4	chr11:56483776-56484067	GM12878	blood:	n/a	n/a
43	JUND	chr11:56483689-56484163	GM12878	blood:	n/a	n/a
44	JUND	chr11:56486240-56486417	HepG2	liver:	n/a	n/a
45	MAFF	chr11:56474075-56474148	HepG2	liver:	n/a	n/a
46	MAFK	chr11:56507492-56507600	HepG2	liver:	n/a	n/a
47	MAFK	chr11:56473898-56474107	HepG2	liver:	n/a	n/a
48	MAFK	chr11:56473936-56474146	HepG2	liver:	n/a	n/a
49	MXI1	chr11:56468760-56468786	GM12878	blood:	n/a	n/a
50	MYC	chr11:56481769-56481947	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:56467944-56467994	Jurkat	blood:	n/a
2	chr11:56467944-56467994	Jurkat	blood:	n/a
3	chr11:56468348-56468398	Caco-2	colon:	n/a
4	chr11:56467944-56467994	HL-60	blood:	n/a
5	chr11:56468348-56468398	HepG2	liver:	n/a
6	chr11:56467944-56467994	NHDF-neo	bronchial:	n/a
7	chr11:56468348-56468398	SK-N-MC	brain:	n/a
8	chr11:56467944-56467994	GM06990	blood:	n/a
9	chr11:56467944-56467994	BJ	skin:	n/a
10	chr11:56468348-56468398	GM12891	blood:	n/a
11	chr11:56468348-56468398	HNPCEpiC	eye:	n/a
12	chr11:56467944-56467994	HRCEpiC	kidney:	n/a
13	chr11:56468348-56468398	AG04449	skin:	fetal
14	chr11:56467944-56467994	HIPEpiC	eye:	n/a
15	chr11:56468348-56468398	H1-hESC	embryonic stem cell:	embryo
16	chr11:56467944-56467994	PANC-1	pancreas:	n/a
17	chr11:56468348-56468398	BJ	skin:	n/a
18	chr11:56468348-56468398	T-47D	breast:	n/a
19	chr11:56468348-56468398	HCT-116	colon:	n/a
20	chr11:56468348-56468398	NH-A	brain:	n/a
21	chr11:56468348-56468398	GM19239	blood:	n/a
22	chr11:56468348-56468398	AG09319	gingival:	n/a
23	chr11:56467944-56467994	GM12891	blood:	n/a
24	chr11:56468348-56468398	SK-N-SH	brain:	n/a
25	chr11:56467944-56467994	BE2_C	brain:	n/a
26	chr11:56467944-56467994	SAEC	small airway:	n/a
27	chr11:56467944-56467994	H1-hESC	embryonic stem cell:	embryo
28	chr11:56468348-56468398	NT2-D1	testis:	n/a
29	chr11:56468348-56468398	GM12878	blood:	n/a
30	chr11:56467944-56467994	GM19239	blood:	n/a
31	chr11:56467944-56467994	AG09319	gingival:	n/a
32	chr11:56468348-56468398	NHBE	bronchial:	n/a
33	chr11:56468348-56468398	ECC-1	luminal epithelium:	n/a
34	chr11:56468348-56468398	PFSK-1	brain:	n/a
35	chr11:56467944-56467994	NT2-D1	testis:	n/a
36	chr11:56468348-56468398	GM06990	blood:	n/a
37	chr11:56467944-56467994	Hepatocyte	liver:	n/a
38	chr11:56468348-56468398	K562	blood:	n/a
39	chr11:56467944-56467994	A549	lung:	n/a
40	chr11:56468348-56468398	HPAEpiC	pulmonary alveolar:	n/a
41	chr11:56467944-56467994	HEEpiC	esophagus:	n/a
42	chr11:56468348-56468398	SKMC	muscle:	n/a
43	chr11:56467944-56467994	SK-N-MC	brain:	n/a
44	chr11:56467944-56467994	ProgFib	skin:	n/a
45	chr11:56468348-56468398	U87	brain:	n/a
46	chr11:56468348-56468398	HCF	heart:	n/a
47	chr11:56468348-56468398	BE2_C	brain:	n/a
48	chr11:56467944-56467994	SK-N-SH	brain:	n/a
49	chr11:56468348-56468398	PrEC	prostate:	n/a
50	chr11:56467944-56467994	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:56489679..56491375-chr11:56501753..56504134,2	K562	blood:

Variant related genes	Relation type
ENSG00000254953	TF binding region
OR9G3P	TF binding region
OR9G1	TF binding region
ENSG00000254953	CpG island
OR9G3P	CpG island
OR9G1	CpG island
ENSG00000254953	chromatin interactions

Extended variants
information (count: 1399 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:1399 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74218731	chr11:56467787-56467788	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs386753785	chr11:56467810-56467811	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs77180330	chr11:56467813-56467814	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs78119960	chr11:56467816-56467817	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs78036340	chr11:56467819-56467820	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs73474897	chr11:56467833-56467834	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs73474900	chr11:56467881-56467882	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143307936	chr11:56467897-56467898	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146469672	chr11:56467898-56467899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530091460	chr11:56467909-56467910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548190434	chr11:56467920-56467921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1704284	chr11:56467926-56467927	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140880903	chr11:56467937-56467938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556450024	chr11:56467944-56467945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs397849604	chr11:56467945-56467946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538866911	chr11:56467951-56467952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143783140	chr11:56467953-56467954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148130764	chr11:56467955-56467956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141109275	chr11:56467960-56467961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199815410	chr11:56467961-56467962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150259232	chr11:56467964-56467965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369133517	chr11:56467988-56467989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202001195	chr11:56467999-56468000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs386753786	chr11:56468020-56468021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532635	chr11:56468021-56468022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139045527	chr11:56468032-56468033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs375423797	chr11:56468036-56468037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375756525	chr11:56468043-56468044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs3975155	chr11:56468044-56468045	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2865519	chr11:56468047-56468048	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2865520	chr11:56468048-56468049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370123148	chr11:56468055-56468056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147457150	chr11:56468058-56468059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs373413715	chr11:56468067-56468068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138421709	chr11:56468079-56468080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377438119	chr11:56468085-56468086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541271628	chr11:56468095-56468096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs602224	chr11:56468111-56468112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559482234	chr11:56468118-56468119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530151941	chr11:56468125-56468126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs367901218	chr11:56468132-56468133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368752537	chr11:56468144-56468145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11228732	chr11:56468155-56468156	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570031361	chr11:56468181-56468182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530969893	chr11:56468193-56468194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4990194	chr11:56468198-56468199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4990195	chr11:56468200-56468201	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372282722	chr11:56468202-56468203	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs591369	chr11:56468212-56468213	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs111278435	chr11:56468224-56468225	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Renal cell carcinoma	18194544	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56463400-56468200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:56465200-56467800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:56467400-56468200	Enhancers	Dnd41	blood
4	chr11:56467600-56468600	Enhancers	NHEK	skin
5	chr11:56467600-56468800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:56467600-56470200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:56467800-56468200	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr11:56467800-56468200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:56467800-56468400	Enhancers	H9 Cell Line	embryonic stem cell
10	chr11:56467800-56468400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr11:56467800-56468600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:56467800-56468600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:56467800-56468600	Enhancers	HMEC	breast
14	chr11:56468200-56468400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:56468200-56468400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr11:56468200-56468600	Flanking Active TSS	Dnd41	blood
17	chr11:56468200-56473200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:56468400-56468600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:56468400-56470200	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:56468600-56469000	Enhancers	Dnd41	blood
21	chr11:56468600-56473200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:56468600-56473200	Weak transcription	HMEC	breast
23	chr11:56468600-56473600	Weak transcription	NHEK	skin
24	chr11:56468800-56472600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:56469000-56470400	Weak transcription	Dnd41	blood
26	chr11:56470200-56473200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:56470400-56471800	Enhancers	Dnd41	blood
28	chr11:56471800-56474200	Flanking Active TSS	Dnd41	blood
29	chr11:56472000-56473800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr11:56472600-56473600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:56473200-56473800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr11:56473200-56474000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:56473200-56474600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:56473200-56474600	Enhancers	HMEC	breast
35	chr11:56473600-56474400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:56473600-56474400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:56473600-56474400	Enhancers	NHEK	skin
38	chr11:56473800-56474200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:56473800-56474200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:56474200-56475000	Enhancers	Dnd41	blood
41	chr11:56480800-56482600	Enhancers	Dnd41	blood
42	chr11:56482000-56482200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:56482200-56484000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:56482600-56483400	Weak transcription	Dnd41	blood
45	chr11:56483400-56484400	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr11:56483400-56484400	Enhancers	Dnd41	blood
47	chr11:56484000-56484400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:56484400-56487200	Weak transcription	Dnd41	blood
49	chr11:56485600-56486000	Enhancers	Fetal Intestine Small	intestine
50	chr11:56487200-56491800	Enhancers	Dnd41	blood

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