Variant report

Variant	nsv555715
Chromosome Location	chr11:87307553-87349407
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	ATF1	chr11:87346802-87346891	K562	blood:	n/a	n/a
2	CEBPB	chr11:87337055-87337224	HepG2	liver:	n/a	n/a
3	CTCF	chr11:87308086-87308087	GM20000	blood:	n/a	n/a
4	CTCF	chr11:87346820-87346970	GM12867	blood:	n/a	n/a
5	CTCF	chr11:87322713-87322746	GM20000	blood:	n/a	n/a
6	CTCF	chr11:87308720-87308870	HEEpiC	esophagus:	n/a	n/a
7	CTCF	chr11:87339237-87339300	H1-hESC	embryonic stem cell:	n/a	n/a
8	CUX1	chr11:87328552-87328652	GM12878	blood:	n/a	n/a
9	E2F4	chr11:87335549-87335749	MCF10A-Er-Src	breast:	n/a	n/a
10	E2F4	chr11:87340432-87340450	MCF10A-Er-Src	breast:	n/a	n/a
11	E2F4	chr11:87325589-87325670	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr11:87338658-87338812	MCF10A-Er-Src	breast:	n/a	n/a
13	EBF1	chr11:87314972-87315220	GM12878	blood:	n/a	chr11:87315092-87315103
14	EBF1	chr11:87314968-87315182	GM12878	blood:	n/a	chr11:87315092-87315103
15	FOS	chr11:87313777-87313983	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr11:87313740-87313995	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:87313809-87313934	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:87343321-87343452	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:87315328-87315513	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA1	chr11:87334449-87334729	HepG2	liver:	n/a	n/a
21	FOXA1	chr11:87308790-87308992	T-47D	breast:	n/a	n/a
22	FOXA2	chr11:87334449-87334791	A549	lung:	n/a	n/a
23	FOXA2	chr11:87334262-87334782	A549	lung:	n/a	n/a
24	GATA3	chr11:87325759-87326079	MCF-7	breast:	n/a	n/a
25	GATA3	chr11:87325720-87326113	T-47D	breast:	n/a	n/a
26	GATA3	chr11:87314031-87314528	SK-N-SH	brain:	n/a	chr11:87314314-87314335
27	GATA3	chr11:87339184-87339373	T-47D	breast:	n/a	n/a
28	GATA3	chr11:87319623-87319812	SH-SY5Y	brain:	n/a	n/a
29	JUN	chr11:87323414-87323426	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAFF	chr11:87308860-87309060	HepG2	liver:	n/a	chr11:87308912-87308930
31	MAFF	chr11:87321626-87321824	HepG2	liver:	n/a	chr11:87321768-87321786
32	MAFK	chr11:87308836-87308998	HepG2	liver:	n/a	n/a
33	MAFK	chr11:87321638-87321930	HepG2	liver:	n/a	n/a
34	MAFK	chr11:87308782-87309008	HepG2	liver:	n/a	n/a
35	MAX	chr11:87323931-87324024	NB4	blood:	n/a	n/a
36	MAZ	chr11:87347043-87347183	HepG2	liver:	n/a	n/a
37	MYC	chr11:87334756-87335089	MCF10A-Er-Src	breast:	n/a	n/a
38	MYC	chr11:87315376-87315460	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr11:87318040-87318079	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr11:87313979-87314088	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr11:87335091-87335102	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr11:87325867-87326001	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr11:87334564-87335083	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr11:87334709-87335104	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:87334565-87334908	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr11:87342985-87343009	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr11:87324244-87324408	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr11:87308701-87309074	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr11:87312613-87312713	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr11:87344262-87344312	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNU6-1135P	TF binding region

Extended variants
information (count: 1596 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1596 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1010308	chr11:87307553-87307554	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs530870966	chr11:87307564-87307565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184122650	chr11:87307591-87307592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368178792	chr11:87307592-87307593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190722490	chr11:87307625-87307626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1010309	chr11:87307654-87307655	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs193033362	chr11:87307669-87307670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549474224	chr11:87307675-87307676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185417776	chr11:87307734-87307735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs940238	chr11:87307799-87307800	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs377362635	chr11:87307826-87307827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571852462	chr11:87307856-87307857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs534479125	chr11:87307898-87307899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554089307	chr11:87307903-87307904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574161799	chr11:87307912-87307913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531043372	chr11:87307923-87307924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144143097	chr11:87308025-87308026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188982375	chr11:87308064-87308065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113738520	chr11:87308072-87308073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564079704	chr11:87308129-87308130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs181421044	chr11:87308130-87308131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540502274	chr11:87308135-87308136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560114718	chr11:87308153-87308154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7940053	chr11:87308181-87308182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs548803718	chr11:87308270-87308271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140884371	chr11:87308448-87308449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2097037	chr11:87308453-87308454	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs531794893	chr11:87308493-87308494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149655563	chr11:87308521-87308522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530392969	chr11:87308531-87308532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185660404	chr11:87308558-87308559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs35456597	chr11:87308575-87308576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs145468684	chr11:87308601-87308602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs188505198	chr11:87308649-87308650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567810404	chr11:87308654-87308655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376510591	chr11:87308656-87308657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367819845	chr11:87308660-87308661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs180899312	chr11:87308750-87308751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141201652	chr11:87308772-87308773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146965107	chr11:87308848-87308849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558808541	chr11:87308872-87308873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570772745	chr11:87308986-87308987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs537511352	chr11:87308990-87308991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28370470	chr11:87309016-87309017	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs28702774	chr11:87309021-87309022	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs147925978	chr11:87309039-87309040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573944885	chr11:87309045-87309046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185829165	chr11:87309077-87309078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574883219	chr11:87309144-87309145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200370119	chr11:87309189-87309190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	20729466	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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
Breast cancer	21364760	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Attention deficit hyperactivity disorder	22241247	CNVD
Breast cancer	21958427	CNVD
Breast cancer	17133270	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Obesity	20622171	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87296400-87313600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:87306200-87308000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:87306600-87307600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:87307600-87308600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:87308600-87308800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr11:87308600-87309600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:87308800-87309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:87309400-87309600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:87311600-87312400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:87311800-87312200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:87313600-87314200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:87314200-87314600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:87314600-87315600	Enhancers	Aorta	Aorta
14	chr11:87314600-87315600	Enhancers	Psoas Muscle	Psoas
15	chr11:87314600-87315800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:87314600-87315800	Enhancers	HMEC	breast
17	chr11:87314800-87315600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr11:87314800-87315600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:87314800-87315600	Enhancers	NHEK	skin
20	chr11:87315000-87315400	Enhancers	Gastric	stomach
21	chr11:87315000-87315400	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:87315000-87315600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:87315000-87315600	Enhancers	Pancreas	Pancrea
24	chr11:87315000-87315800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:87327600-87327800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:87327800-87344600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:87334200-87334600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr11:87334200-87334600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr11:87334600-87334800	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr11:87334600-87334800	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:87334600-87334800	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr11:87334600-87335000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr11:87334600-87335000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:87334600-87335000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:87334600-87335200	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:87334600-87335200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:87334800-87335000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr11:87334800-87335000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr11:87334800-87335200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:87334800-87335200	Active TSS	A549	lung
41	chr11:87335000-87335400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr11:87335000-87335400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:87335200-87335400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:87335200-87335400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:87335200-87335400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr11:87335400-87338800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr11:87338800-87339000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr11:87338800-87339200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr11:87344600-87345800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:87345600-87346200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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