Variant report

Variant	nsv819971
Chromosome Location	chr11:59431720-59434566
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	chr11:59434424-59434795	IMR90	lung:	n/a	chr11:59434602-59434613 chr11:59434602-59434615 chr11:59434628-59434641
2	CEBPB	chr11:59434451-59434734	K562	blood:	n/a	chr11:59434602-59434613 chr11:59434602-59434615 chr11:59434628-59434641
3	CEBPB	chr11:59434410-59434790	Hela-S3	cervix:	n/a	chr11:59434602-59434613 chr11:59434602-59434615 chr11:59434628-59434641
4	CEBPB	chr11:59434441-59434757	A549	lung:	n/a	chr11:59434602-59434613 chr11:59434602-59434615 chr11:59434628-59434641
5	CEBPB	chr11:59434439-59434799	HepG2	liver:	n/a	chr11:59434602-59434613 chr11:59434602-59434615 chr11:59434628-59434641
6	FOS	chr11:59434489-59434745	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr11:59434430-59434687	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr11:59434447-59434731	MCF10A-Er-Src	breast:	n/a	n/a
9	FOS	chr11:59434456-59434678	MCF10A-Er-Src	breast:	n/a	n/a
10	IRF1	chr11:59434409-59434674	K562	blood:	n/a	chr11:59434618-59434628 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434622-59434642 chr11:59434620-59434634 chr11:59434618-59434632 chr11:59434617-59434631 chr11:59434616-59434636 chr11:59434614-59434628 chr11:59434617-59434628
11	IRF1	chr11:59434398-59435008	K562	blood:	n/a	chr11:59434618-59434628 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434622-59434642 chr11:59434947-59434960 chr11:59434620-59434634 chr11:59434618-59434632 chr11:59434617-59434631 chr11:59434616-59434636 chr11:59434614-59434628 chr11:59434617-59434628
12	IRF1	chr11:59434481-59434794	K562	blood:	n/a	chr11:59434618-59434628 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434617-59434630 chr11:59434622-59434642 chr11:59434620-59434634 chr11:59434618-59434632 chr11:59434617-59434631 chr11:59434616-59434636 chr11:59434614-59434628 chr11:59434617-59434628
13	JUN	chr11:59434490-59434690	HepG2	liver:	n/a	chr11:59434603-59434616
14	MAFF	chr11:59434452-59434652	HepG2	liver:	n/a	n/a
15	MAFK	chr11:59434465-59434656	HepG2	liver:	n/a	n/a
16	MAFK	chr11:59434438-59434664	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:59434223-59434416	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr11:59432231-59432319	K562	blood:	n/a	n/a
19	POLR2A	chr11:59432985-59433052	HepG2	liver:	n/a	n/a
20	POLR2A	chr11:59432815-59432831	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr11:59433054-59433150	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:59432093-59432179	K562	blood:	n/a	n/a
23	SPI1	chr11:59434347-59434853	HL-60	blood:	n/a	chr11:59434713-59434722
24	STAT3	chr11:59434485-59435051	MCF10A-Er-Src	breast:	n/a	chr11:59434617-59434628 chr11:59434623-59434634
25	STAT3	chr11:59434442-59434704	MCF10A-Er-Src	breast:	n/a	chr11:59434617-59434628 chr11:59434623-59434634
26	STAT3	chr11:59434399-59434774	MCF10A-Er-Src	breast:	n/a	chr11:59434617-59434628 chr11:59434623-59434634
27	STAT3	chr11:59434521-59434647	MCF10A-Er-Src	breast:	n/a	chr11:59434617-59434628 chr11:59434623-59434634

No.	Distal block	Cell Line	Cell type
1	chr11:59331158..59335239-chr11:59433739..59436205,3	K562	blood:
2	chr11:59426718..59429219-chr11:59431171..59432816,2	MCF-7	breast:
3	chr11:59426478..59432385-chr11:59434040..59438268,6	K562	blood:
4	chr11:59430323..59433275-chr11:59435459..59437592,2	MCF-7	breast:
5	chr11:59331158..59335239-chr11:59432687..59436578,5	K562	blood:
6	chr11:59427010..59429204-chr11:59432808..59435498,2	MCF-7	breast:
7	chr11:59432565..59434123-chr11:59436091..59437833,2	K562	blood:
8	chr11:59424561..59426606-chr11:59430205..59433871,3	K562	blood:
9	chr11:59426691..59428934-chr11:59429924..59431970,2	K562	blood:

Variant related genes	Relation type
ENSG00000255355	TF binding region
ENSG00000255355	chromatin interactions
ENSG00000166889	chromatin interactions
ENSG00000255008	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138624159	chr11:59431724-59431725	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs546927970	chr11:59431725-59431726	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs187119312	chr11:59431735-59431736	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575682926	chr11:59431736-59431737	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs149324914	chr11:59431743-59431744	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs561500125	chr11:59431824-59431825	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs1938690	chr11:59431837-59431838	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs114225874	chr11:59431886-59431887	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs569320834	chr11:59431986-59431987	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs11230039	chr11:59432000-59432001	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs190357123	chr11:59432069-59432070	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561113261	chr11:59432078-59432079	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558253866	chr11:59432079-59432080	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs144533468	chr11:59432103-59432104	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs540640876	chr11:59432132-59432133	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs555654992	chr11:59432166-59432167	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs529933168	chr11:59432177-59432178	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs540496815	chr11:59432222-59432223	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs74736835	chr11:59432225-59432226	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs148451245	chr11:59432265-59432266	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560468606	chr11:59432384-59432385	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544741709	chr11:59432386-59432387	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs117454028	chr11:59432410-59432411	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371231522	chr11:59432516-59432517	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs527237590	chr11:59432519-59432520	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs548612299	chr11:59432656-59432657	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs568407686	chr11:59432675-59432676	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs538505627	chr11:59432848-59432849	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs529579345	chr11:59432859-59432860	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs550743067	chr11:59432871-59432872	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs532101499	chr11:59432879-59432880	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs73486962	chr11:59432880-59432881	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs182033942	chr11:59432985-59432986	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs184896464	chr11:59432997-59432998	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs144112199	chr11:59433000-59433001	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs189750463	chr11:59433012-59433013	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs542526505	chr11:59433044-59433045	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs540715863	chr11:59433052-59433053	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs573960602	chr11:59433054-59433055	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs372670647	chr11:59433058-59433059	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs367837250	chr11:59433132-59433133	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs577720759	chr11:59433208-59433209	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs545190719	chr11:59433223-59433224	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs559986407	chr11:59433231-59433232	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs146090285	chr11:59433233-59433234	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs542202171	chr11:59433237-59433238	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs140098426	chr11:59433242-59433243	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs573552584	chr11:59433252-59433253	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs369956513	chr11:59433269-59433270	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs115840223	chr11:59433273-59433274	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Autism	22495309	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59395600-59434600	Weak transcription	Stomach Mucosa	stomach
2	chr11:59402200-59432400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:59402200-59434000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:59402600-59434000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:59402600-59434000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:59402600-59434200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr11:59402600-59434400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr11:59402800-59434200	Strong transcription	Duodenum Mucosa	Duodenum
9	chr11:59402800-59434200	Strong transcription	Fetal Thymus	thymus
10	chr11:59402800-59434400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:59403200-59434600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr11:59403400-59434400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:59403400-59434400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:59403600-59434600	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:59403800-59433200	Strong transcription	HMEC	breast
16	chr11:59404000-59434600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr11:59404200-59434600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:59404200-59434600	Strong transcription	NH-A	brain
19	chr11:59408200-59434400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:59409200-59435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:59412200-59432400	Strong transcription	Fetal Brain Female	brain
22	chr11:59412800-59433400	Strong transcription	NHDF-Ad	bronchial
23	chr11:59413000-59434000	Strong transcription	Hela-S3	cervix
24	chr11:59413400-59434800	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:59413600-59434800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:59414400-59434400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:59415400-59435400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr11:59416000-59433200	Strong transcription	K562	blood
29	chr11:59424200-59434600	Weak transcription	Fetal Heart	heart
30	chr11:59424600-59432200	Weak transcription	Psoas Muscle	Psoas
31	chr11:59424800-59434400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr11:59425600-59435000	Weak transcription	Small Intestine	intestine
33	chr11:59425600-59435600	Weak transcription	Aorta	Aorta
34	chr11:59425600-59435600	Weak transcription	Gastric	stomach
35	chr11:59425800-59435000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:59425800-59435400	Weak transcription	Pancreas	Pancrea
37	chr11:59426200-59432000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr11:59426200-59435400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:59426200-59435400	Weak transcription	Esophagus	oesophagus
40	chr11:59426400-59432000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:59426400-59435000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:59426600-59432200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr11:59426600-59432200	Weak transcription	Brain Hippocampus Middle	brain
44	chr11:59426600-59432200	Weak transcription	HSMMtube	muscle
45	chr11:59426800-59435000	Weak transcription	Right Ventricle	heart
46	chr11:59427000-59432200	Weak transcription	Ovary	ovary
47	chr11:59427000-59432200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr11:59427000-59435400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:59428000-59433000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr11:59428200-59432000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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