Variant report

Variant	nsv972897
Chromosome Location	chr11:77622081-77628075
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	chr11:77625430-77625904	HepG2	liver:	n/a	n/a
2	CEBPB	chr11:77625531-77625790	IMR90	lung:	n/a	n/a
3	CHD2	chr11:77625371-77625451	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr11:77623331-77623376	MCF-7	breast:	n/a	n/a
5	CTCF	chr11:77623300-77623450	MCF-7	breast:	n/a	n/a
6	EP300	chr11:77625324-77625763	HepG2	liver:	n/a	chr11:77625436-77625446 chr11:77625535-77625549
7	EP300	chr11:77625323-77625701	HepG2	liver:	n/a	chr11:77625436-77625446 chr11:77625535-77625549
8	EP300	chr11:77625420-77625620	Hela-S3	cervix:	n/a	chr11:77625436-77625446 chr11:77625535-77625549
9	FOS	chr11:77625303-77625644	MCF10A-Er-Src	breast:	n/a	chr11:77625451-77625463 chr11:77625453-77625461
10	FOS	chr11:77625295-77625784	MCF10A-Er-Src	breast:	n/a	chr11:77625451-77625463 chr11:77625453-77625461
11	FOS	chr11:77625363-77625643	MCF10A-Er-Src	breast:	n/a	chr11:77625451-77625463 chr11:77625453-77625461
12	FOS	chr11:77625275-77625652	MCF10A-Er-Src	breast:	n/a	chr11:77625451-77625463 chr11:77625453-77625461
13	FOSL2	chr11:77625153-77625727	HepG2	liver:	n/a	chr11:77625181-77625195 chr11:77625451-77625463 chr11:77625453-77625461
14	FOSL2	chr11:77625032-77625746	HepG2	liver:	n/a	chr11:77625181-77625195 chr11:77625451-77625463 chr11:77625453-77625461
15	FOSL2	chr11:77625971-77626205	HepG2	liver:	n/a	n/a
16	FOXA1	chr11:77623970-77624305	HepG2	liver:	n/a	n/a
17	FOXA1	chr11:77625326-77625838	HepG2	liver:	n/a	n/a
18	FOXA1	chr11:77625329-77625752	HepG2	liver:	n/a	n/a
19	FOXA1	chr11:77625310-77625916	HepG2	liver:	n/a	n/a
20	FOXA1	chr11:77625063-77625936	HepG2	liver:	n/a	n/a
21	FOXA2	chr11:77625129-77625733	A549	lung:	n/a	n/a
22	FOXA2	chr11:77625354-77625801	HepG2	liver:	n/a	n/a
23	FOXA2	chr11:77625097-77625741	A549	lung:	n/a	n/a
24	FOXP2	chr11:77625215-77625709	PFSK-1	brain:	n/a	n/a
25	GATA3	chr11:77623595-77623917	MCF-7	breast:	n/a	n/a
26	GATA3	chr11:77623713-77623797	MCF-7	breast:	n/a	n/a
27	HEY1	chr11:77625182-77625716	HepG2	liver:	n/a	n/a
28	HNF4A	chr11:77625461-77625804	HepG2	liver:	n/a	n/a
29	JUND	chr11:77625235-77625666	HepG2	liver:	n/a	chr11:77625451-77625463 chr11:77625453-77625461 chr11:77625451-77625462
30	JUND	chr11:77625413-77625636	HepG2	liver:	n/a	chr11:77625451-77625463 chr11:77625453-77625461 chr11:77625451-77625462
31	JUND	chr11:77625179-77625945	HepG2	liver:	n/a	chr11:77625181-77625195 chr11:77625451-77625463 chr11:77625453-77625461 chr11:77625451-77625462
32	KAP1	chr11:77625252-77625733	U2OS	brain:	n/a	chr11:77625451-77625460
33	MAFF	chr11:77625422-77625811	HepG2	liver:	n/a	chr11:77625619-77625637
34	MAFK	chr11:77625433-77625799	HepG2	liver:	n/a	chr11:77625620-77625635
35	MAFK	chr11:77625431-77625809	IMR90	lung:	n/a	chr11:77625620-77625635
36	MAFK	chr11:77625426-77625811	HepG2	liver:	n/a	chr11:77625620-77625635
37	MAFK	chr11:77625474-77625775	Hela-S3	cervix:	n/a	chr11:77625620-77625635
38	MXI1	chr11:77625547-77625867	HepG2	liver:	n/a	n/a
39	MYBL2	chr11:77625164-77625970	HepG2	liver:	n/a	n/a
40	MYBL2	chr11:77624888-77625975	HepG2	liver:	n/a	n/a
41	MYC	chr11:77625452-77625733	MCF10A-Er-Src	breast:	n/a	chr11:77625452-77625461
42	NFIC	chr11:77625354-77625755	HepG2	liver:	n/a	chr11:77625480-77625497
43	NFIC	chr11:77625247-77625833	HepG2	liver:	n/a	chr11:77625480-77625497
44	POLR2A	chr11:77624897-77626153	PFSK-1	brain:	n/a	n/a
45	POLR2A	chr11:77625302-77625660	SK-N-MC	brain:	n/a	n/a
46	POLR2A	chr11:77624884-77625828	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr11:77625194-77625684	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr11:77625233-77625601	PANC-1	pancreas:	n/a	n/a
49	POLR2A	chr11:77625535-77625659	MCF10A-Er-Src	breast:	n/a	n/a
50	RAD21	chr11:77625266-77625284	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77624320..77625883-chr11:77704259..77705967,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSF1-2	chr11:77626036-77626321	NONHSAT023243

Variant related genes	Relation type
INTS4	TF binding region
ENSG00000255115	TF binding region
ENSG00000149262	chromatin interactions

Extended variants
information (count: 180 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:180 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193069058	chr11:77622098-77622099	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183818108	chr11:77622115-77622116	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528507110	chr11:77622132-77622133	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545362592	chr11:77622136-77622137	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559135326	chr11:77622151-77622152	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575713172	chr11:77622153-77622154	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544304249	chr11:77622163-77622164	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560601778	chr11:77622222-77622223	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529735997	chr11:77622274-77622275	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539880439	chr11:77622275-77622276	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs188364678	chr11:77622286-77622287	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192918143	chr11:77622331-77622332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140727428	chr11:77622332-77622333	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184008286	chr11:77622393-77622394	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112765033	chr11:77622434-77622435	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531366895	chr11:77622533-77622534	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551060578	chr11:77622541-77622542	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188347808	chr11:77622568-77622569	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs546936532	chr11:77622578-77622579	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75363184	chr11:77622602-77622603	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150085710	chr11:77622622-77622623	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553438677	chr11:77622627-77622628	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191321353	chr11:77622656-77622657	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114149247	chr11:77622745-77622746	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183710946	chr11:77622787-77622788	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558944806	chr11:77622795-77622796	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536093557	chr11:77622797-77622798	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575798128	chr11:77622840-77622841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113068108	chr11:77622878-77622879	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544525244	chr11:77622937-77622938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189607617	chr11:77622949-77622950	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574224440	chr11:77623053-77623054	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539916885	chr11:77623096-77623097	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182074010	chr11:77623125-77623126	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548073694	chr11:77623126-77623127	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187167690	chr11:77623134-77623135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546089909	chr11:77623171-77623172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569555209	chr11:77623186-77623187	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536832881	chr11:77623206-77623207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs553736865	chr11:77623281-77623282	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189818756	chr11:77623290-77623291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548446370	chr11:77623356-77623357	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs561849779	chr11:77623357-77623358	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs61686563	chr11:77623423-77623424	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs146992674	chr11:77623426-77623427	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs530247643	chr11:77623454-77623455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181414732	chr11:77623489-77623490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185348953	chr11:77623512-77623513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538609059	chr11:77623592-77623593	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552539431	chr11:77623630-77623631	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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	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
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
Ovarian cancer	21720365	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77577400-77630800	Weak transcription	Fetal Heart	heart
2	chr11:77579200-77625000	Weak transcription	HMEC	breast
3	chr11:77583400-77670600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:77583400-77690000	Weak transcription	Colonic Mucosa	Colon
5	chr11:77586600-77625000	Weak transcription	Stomach Mucosa	stomach
6	chr11:77591800-77650400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:77592800-77690000	Weak transcription	Small Intestine	intestine
8	chr11:77593800-77625000	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr11:77595800-77671000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr11:77597400-77625000	Weak transcription	A549	lung
11	chr11:77597600-77629400	Weak transcription	Brain Germinal Matrix	brain
12	chr11:77597800-77624800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:77597800-77625000	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:77597800-77625000	Weak transcription	Pancreas	Pancrea
15	chr11:77597800-77625000	Weak transcription	NHDF-Ad	bronchial
16	chr11:77597800-77625200	Weak transcription	NHEK	skin
17	chr11:77597800-77625600	Weak transcription	HSMM	muscle
18	chr11:77597800-77629000	Weak transcription	Aorta	Aorta
19	chr11:77597800-77633800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:77597800-77644200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:77597800-77644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:77597800-77669800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:77597800-77671000	Weak transcription	Fetal Brain Male	brain
24	chr11:77597800-77678200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:77597800-77690000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:77597800-77690000	Weak transcription	Esophagus	oesophagus
27	chr11:77597800-77690000	Weak transcription	Gastric	stomach
28	chr11:77601800-77629800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:77602000-77640600	Weak transcription	K562	blood
30	chr11:77602600-77625200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr11:77602600-77644200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:77602800-77690000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:77603000-77625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:77603000-77637400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:77603200-77622200	Weak transcription	NH-A	brain
36	chr11:77603200-77625000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:77603200-77625000	Weak transcription	Osteobl	bone
38	chr11:77603200-77650200	Weak transcription	Fetal Brain Female	brain
39	chr11:77603400-77625000	Weak transcription	HUVEC	blood vessel
40	chr11:77604200-77625000	Weak transcription	NHLF	lung
41	chr11:77604600-77625000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr11:77604800-77644200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:77605800-77624800	Weak transcription	Hela-S3	cervix
44	chr11:77610600-77625000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:77611400-77622800	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:77612600-77637000	Weak transcription	Brain Anterior Caudate	brain
47	chr11:77614600-77629200	Weak transcription	Lung	lung
48	chr11:77614800-77638800	Weak transcription	Brain Angular Gyrus	brain
49	chr11:77614800-77700200	Weak transcription	Psoas Muscle	Psoas
50	chr11:77615000-77624800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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