Variant report

Variant	nsv976491
Chromosome Location	chr11:77459085-77487555
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	chr11:77487460-77487860	HepG2	liver:	n/a	n/a
2	BCL11A	chr11:77464230-77464515	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr11:77480100-77480204	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD2	chr11:77464303-77464606	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:77487520-77487670	GM12870	blood:	n/a	n/a
6	CTCF	chr11:77487500-77487650	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr11:77487455-77487886	MCF-7	breast:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
8	CTCF	chr11:77487512-77487881	K562	blood:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
9	CTCF	chr11:77487260-77488099	A549	lung:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
10	CTCF	chr11:77487415-77487945	HCT-116	colon:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
11	CTCF	chr11:77487520-77487670	WI-38	lung:	n/a	n/a
12	CTCF	chr11:77487500-77487650	HFF	foreskin:	n/a	n/a
13	CTCF	chr11:77487502-77487797	A549	lung:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
14	CTCF	chr11:77487342-77487911	SK-N-SH	brain:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
15	CTCF	chr11:77487503-77487881	GM12878	blood:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
16	CTCF	chr11:77487535-77487818	A549	lung:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
17	CTCF	chr11:77487260-77487410	Caco-2	colon:	n/a	n/a
18	CTCF	chr11:77487517-77487900	HepG2	liver:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
19	CTCF	chr11:77487492-77487867	IMR90	lung:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
20	CTCF	chr11:77485200-77485350	GM12874	blood:	n/a	n/a
21	CTCF	chr11:77487520-77487670	HAc	cerebellar:	n/a	n/a
22	CTCF	chr11:77487540-77487690	HCT-116	colon:	n/a	n/a
23	CTCF	chr11:77487441-77487811	A549	lung:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
24	CTCF	chr11:77487502-77487961	MCF-7	breast:	n/a	chr11:77487680-77487698 chr11:77487682-77487703
25	CTCF	chr11:77487460-77487610	HPF	lung:	n/a	n/a
26	CTCF	chr11:77487500-77487650	HCM	heart:	n/a	n/a
27	CTCF	chr11:77487520-77487670	GM12871	blood:	n/a	n/a
28	CUX1	chr11:77487419-77487908	K562	blood:	n/a	chr11:77487762-77487771
29	E2F6	chr11:77464304-77464803	H1-hESC	embryonic stem cell:	n/a	n/a
30	EP300	chr11:77482167-77482174	K562	blood:	n/a	n/a
31	FOXA2	chr11:77461902-77462098	HepG2	liver:	n/a	n/a
32	GATA3	chr11:77461684-77462282	MCF-7	breast:	n/a	chr11:77462147-77462157 chr11:77462082-77462092
33	GATA3	chr11:77482230-77482561	T-47D	breast:	n/a	n/a
34	GATA3	chr11:77482128-77482521	SK-N-SH	brain:	n/a	n/a
35	GATA3	chr11:77482036-77482679	SK-N-SH	brain:	n/a	chr11:77482083-77482094 chr11:77482046-77482053
36	IRF1	chr11:77469707-77469708	K562	blood:	n/a	n/a
37	IRF3	chr11:77483880-77483885	GM12878	blood:	n/a	n/a
38	JUN	chr11:77470179-77470226	K562	blood:	n/a	n/a
39	JUN	chr11:77473421-77473619	K562	blood:	n/a	n/a
40	JUND	chr11:77465279-77465347	H1-hESC	embryonic stem cell:	n/a	n/a
41	JUND	chr11:77463675-77463870	H1-hESC	embryonic stem cell:	n/a	n/a
42	JUND	chr11:77464418-77464537	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAFK	chr11:77476412-77476490	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr11:77464707-77465012	K562	blood:	n/a	n/a
45	MAX	chr11:77464384-77464566	H1-hESC	embryonic stem cell:	n/a	n/a
46	MAX	chr11:77482282-77482510	NB4	blood:	n/a	n/a
47	MYC	chr11:77464403-77464547	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr11:77483426-77483481	MCF-7	breast:	n/a	n/a
49	NANOG	chr11:77464272-77464551	H1-hESC	embryonic stem cell:	n/a	n/a
50	NR2F2	chr11:77461719-77462248	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:77437843..77440706-chr11:77460453..77462382,2	MCF-7	breast:
2	chr11:77487226..77488107-chr11:77710812..77711578,2	MCF-7	breast:
3	chr11:77458902..77461014-chr11:77463719..77466045,2	MCF-7	breast:
4	chr11:77469026..77471018-chr11:77478256..77480233,2	K562	blood:
5	chr11:77487322..77488236-chr11:77710718..77711403,3	K562	blood:
6	chr11:77465455..77468015-chr11:77473324..77476058,2	K562	blood:
7	chr11:77471723..77474235-chr11:77476528..77478649,4	K562	blood:
8	chr11:77487445..77490849-chr11:77530264..77533102,3	MCF-7	breast:
9	chr11:77458902..77461014-chr11:77463719..77466045,2	MCF-7	breast:
10	chr11:77487200..77488007-chr11:77710887..77711898,5	MCF-7	breast:
11	chr11:77471723..77474235-chr11:77476528..77478649,4	K562	blood:
12	chr11:77480794..77483051-chr11:77484958..77486790,2	MCF-7	breast:
13	chr11:77393190..77396139-chr11:77472455..77474265,2	K562	blood:
14	chr11:77469026..77471018-chr11:77478256..77480233,2	K562	blood:
15	chr11:77461975..77464092-chr11:77464635..77466479,2	MCF-7	breast:
16	chr11:77467587..77469743-chr11:77490078..77492940,2	K562	blood:
17	chr11:77475921..77478219-chr11:77498193..77500876,2	MCF-7	breast:
18	chr11:77480794..77483051-chr11:77484958..77486790,2	MCF-7	breast:
19	chr11:77455765..77458088-chr11:77462685..77464905,2	K562	blood:
20	chr11:77461975..77464092-chr11:77464635..77466479,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AQP11-4	chr11:77467405-77467427	NONHSAT023216

Variant related genes	Relation type
RSF1	TF binding region
ENSG00000048649	chromatin interactions
ENSG00000087884	chromatin interactions

Extended variants
information (count: 1028 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575838813	chr11:77459106-77459107	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544938305	chr11:77459147-77459148	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561445563	chr11:77459149-77459150	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375953975	chr11:77459164-77459165	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185164390	chr11:77459177-77459178	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189901481	chr11:77459236-77459237	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372130350	chr11:77459262-77459263	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201523098	chr11:77459273-77459274	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72949611	chr11:77459274-77459275	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7118599	chr11:77459331-77459332	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560264068	chr11:77459391-77459392	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4322421	chr11:77459394-77459395	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs551874648	chr11:77459410-77459411	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112744793	chr11:77459414-77459415	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78446525	chr11:77459415-77459416	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181383721	chr11:77459417-77459418	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143894212	chr11:77459428-77459429	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146193798	chr11:77459457-77459458	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533709859	chr11:77459472-77459473	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553554367	chr11:77459539-77459540	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139081020	chr11:77459567-77459568	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7102261	chr11:77459576-77459577	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77317290	chr11:77459635-77459636	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539782466	chr11:77459652-77459653	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144060437	chr11:77459694-77459695	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535411410	chr11:77459712-77459713	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369314766	chr11:77459713-77459714	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368144782	chr11:77459723-77459724	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575624143	chr11:77459728-77459729	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144933651	chr11:77459729-77459730	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185693488	chr11:77459759-77459760	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555294382	chr11:77459760-77459761	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575235484	chr11:77459761-77459762	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540785730	chr11:77459779-77459780	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560680289	chr11:77459819-77459820	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111704691	chr11:77459833-77459834	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573745990	chr11:77459834-77459835	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377492643	chr11:77459864-77459865	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543978544	chr11:77459885-77459886	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149090430	chr11:77459886-77459887	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533054878	chr11:77459888-77459889	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545060338	chr11:77459918-77459919	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547804518	chr11:77459921-77459922	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567966230	chr11:77459943-77459944	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527590472	chr11:77459993-77459994	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188299858	chr11:77460068-77460069	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs77475268	chr11:77460081-77460082	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570673368	chr11:77460110-77460111	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538736742	chr11:77460114-77460115	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372376612	chr11:77460129-77460130	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	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
Acute lymphoblastic leukemia	21339820	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21240255	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	20932292	CNVD
Cancer	20164920	CNVD
Ovarian cancer	20844748	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17142309	CNVD
Colorectal cancer	16912164	CNVD
Mental retardation	17847001	CNVD
Melanoma	19509136	CNVD
Sudden cardiac death	19188705	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Hepatocellular carcinoma	16785998	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77394800-77462600	Weak transcription	Fetal Heart	heart
2	chr11:77409600-77478200	Weak transcription	Brain Angular Gyrus	brain
3	chr11:77410400-77477600	Weak transcription	Brain Substantia Nigra	brain
4	chr11:77431600-77482400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:77436200-77462600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:77436200-77463000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:77436200-77473400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:77436200-77477000	Weak transcription	Colonic Mucosa	Colon
9	chr11:77436600-77473200	Weak transcription	NHDF-Ad	bronchial
10	chr11:77442400-77463600	Weak transcription	Brain Anterior Caudate	brain
11	chr11:77442400-77472600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:77442800-77474600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr11:77442800-77500200	Weak transcription	Pancreas	Pancrea
14	chr11:77443000-77465800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:77443200-77473600	Weak transcription	Fetal Brain Female	brain
16	chr11:77443200-77500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:77443400-77464400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:77443800-77465800	Weak transcription	Brain Germinal Matrix	brain
19	chr11:77445800-77476800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:77446000-77465800	Weak transcription	Fetal Kidney	kidney
21	chr11:77446200-77461600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:77446200-77461800	Weak transcription	Gastric	stomach
23	chr11:77446200-77463200	Weak transcription	Aorta	Aorta
24	chr11:77446200-77463200	Weak transcription	Left Ventricle	heart
25	chr11:77446200-77464800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr11:77446200-77465800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:77446200-77467200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr11:77446200-77482400	Weak transcription	Spleen	Spleen
29	chr11:77446400-77463400	Weak transcription	Fetal Intestine Large	intestine
30	chr11:77446400-77463600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:77446400-77463600	Weak transcription	Lung	lung
32	chr11:77446400-77474800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:77447800-77465800	Weak transcription	Adipose Nuclei	Adipose
34	chr11:77448400-77463800	Weak transcription	K562	blood
35	chr11:77448600-77464200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:77448800-77459600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:77448800-77464600	Weak transcription	Thymus	Thymus
38	chr11:77448800-77473200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:77449000-77464600	Weak transcription	Fetal Muscle Leg	muscle
40	chr11:77449200-77461600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr11:77449800-77474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:77450400-77465800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:77450600-77474600	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:77451400-77459400	Weak transcription	HUVEC	blood vessel
45	chr11:77452000-77462200	Weak transcription	HepG2	liver
46	chr11:77452000-77464000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:77452000-77464800	Weak transcription	GM12878-XiMat	blood
48	chr11:77452000-77465000	Weak transcription	Placenta	Placenta
49	chr11:77452000-77465800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:77452000-77465800	Weak transcription	Fetal Brain Male	brain

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