Variant report

Variant	esv3325606
Chromosome Location	chr11:47377916-47378083
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	BCL3	chr11:47377019-47379137	GM12878	blood:	n/a	chr11:47377212-47377225
2	BCL3	chr11:47377142-47379210	GM12878	blood:	n/a	chr11:47377212-47377225
3	CTCF	chr11:47376058-47377990	SK-N-SH	brain:	n/a	n/a
4	CTCF	chr11:47377958-47378092	GM19239	blood:	n/a	n/a
5	CTCF	chr11:47377936-47378048	GM12892	blood:	n/a	n/a
6	EGR1	chr11:47376752-47378139	K562	blood:	n/a	chr11:47377146-47377159 chr11:47377146-47377156
7	EGR1	chr11:47377606-47378103	K562	blood:	n/a	n/a
8	HCFC1	chr11:47375283-47378502	Hela-S3	cervix:	n/a	n/a
9	MAX	chr11:47376685-47377942	MCF-7	breast:	n/a	chr11:47377117-47377127
10	MAX	chr11:47376577-47378018	A549	lung:	n/a	chr11:47377117-47377127
11	MYC	chr11:47377933-47377946	MCF10A-Er-Src	breast:	n/a	n/a
12	NFATC1	chr11:47377170-47379243	GM12878	blood:	n/a	n/a
13	NFATC1	chr11:47377156-47379234	GM12878	blood:	n/a	n/a
14	NFIC	chr11:47377960-47378440	GM12878	blood:	n/a	n/a
15	NR2C2	chr11:47377334-47379030	Hela-S3	cervix:	n/a	n/a
16	NR2C2	chr11:47377433-47378934	GM12878	blood:	n/a	n/a
17	PBX3	chr11:47377237-47379073	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:47377292-47378065	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:47378012-47378195	K562	blood:	n/a	n/a
20	POLR2A	chr11:47377259-47378915	K562	blood:	n/a	n/a
21	POLR2A	chr11:47374127-47379189	HL-60	blood:	n/a	n/a
22	POLR2A	chr11:47377324-47378461	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:47377106-47379195	GM12892	blood:	n/a	n/a
24	POLR2A	chr11:47377233-47379168	GM12892	blood:	n/a	n/a
25	POLR2A	chr11:47377453-47378995	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:47377812-47378939	GM12891	blood:	n/a	n/a
27	POLR2A	chr11:47377105-47379138	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:47377368-47379035	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:47377269-47378430	GM12891	blood:	n/a	n/a
30	POLR2A	chr11:47376852-47379239	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:47377075-47379134	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:47377606-47377959	GM12891	blood:	n/a	n/a
33	POLR2A	chr11:47377122-47379262	GM12892	blood:	n/a	n/a
34	POLR2A	chr11:47375214-47379216	HL-60	blood:	n/a	n/a
35	POLR2A	chr11:47376524-47379003	K562	blood:	n/a	n/a
36	POU2F2	chr11:47377227-47378491	GM12891	blood:	n/a	n/a
37	SMC3	chr11:47376646-47378043	SK-N-SH	brain:	n/a	n/a
38	STAT5A	chr11:47376624-47380261	K562	blood:	n/a	chr11:47377638-47377646 chr11:47377196-47377208
39	STAT5A	chr11:47376783-47380298	GM12878	blood:	n/a	chr11:47377638-47377646 chr11:47377196-47377208
40	STAT5A	chr11:47377591-47379127	K562	blood:	n/a	chr11:47377638-47377646
41	STAT5A	chr11:47377226-47379146	GM12878	blood:	n/a	chr11:47377638-47377646
42	SUZ12	chr11:47377357-47378869	H1-hESC	embryonic stem cell:	n/a	n/a
43	TCF3	chr11:47377990-47378447	GM12878	blood:	n/a	chr11:47378114-47378123 chr11:47378147-47378163 chr11:47378151-47378160 chr11:47378189-47378198
44	TCF3	chr11:47377919-47378237	GM12878	blood:	n/a	chr11:47378114-47378123 chr11:47378147-47378163 chr11:47378151-47378160 chr11:47378189-47378198

No.	Distal block	Cell Line	Cell type
1	chr11:47375459..47378280-chr11:47382815..47386328,3	K562	blood:
2	chr11:47376723..47380459-chr11:47382736..47386696,5	K562	blood:
3	chr11:47377126..47379230-chr11:47428179..47431168,2	MCF-7	breast:
4	chr11:47376739..47379188-chr11:47381497..47383536,3	MCF-7	breast:
5	chr11:47196513..47199902-chr11:47376301..47378521,3	K562	blood:
6	chr11:47378071..47380550-chr11:47420446..47422509,2	MCF-7	breast:
7	chr11:47362680..47364496-chr11:47377424..47380369,2	K562	blood:
8	chr11:47290254..47293439-chr11:47374246..47378968,6	MCF-7	breast:
9	chr11:47269295..47270881-chr11:47376927..47379206,2	MCF-7	breast:
10	chr11:47290509..47292951-chr11:47377343..47380007,3	MCF-7	breast:

Variant related genes	Relation type
MYBPC3	TF binding region
ENSG00000255197	chromatin interactions
ENSG00000149182	chromatin interactions
ENSG00000110514	chromatin interactions
ENSG00000165915	chromatin interactions
ENSG00000025434	chromatin interactions
ENSG00000134575	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550021217	chr11:47377916-47377917	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs114246705	chr11:47377940-47377941	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs139122680	chr11:47377951-47377952	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs555046533	chr11:47377969-47377970	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs199598952	chr11:47377980-47377981	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs571853109	chr11:47377981-47377982	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs12787518	chr11:47377987-47377988	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs571820381	chr11:47377990-47377991	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs534401719	chr11:47377996-47377997	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs557966604	chr11:47378019-47378020	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs578108998	chr11:47378046-47378047	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs11039196	chr11:47378058-47378059	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563975336	chr11:47378063-47378064	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs573962149	chr11:47378066-47378067	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs112113118	chr11:47378072-47378073	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs398097519	chr11:47378073-47378074	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs144761077	chr11:47378075-47378076	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs111292741	chr11:47378077-47378078	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47371000-47379800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr11:47374800-47380400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:47375400-47379600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr11:47375400-47381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:47375600-47379600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr11:47375600-47380400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr11:47375600-47380600	Strong transcription	Primary B cells from cord blood	blood
8	chr11:47375600-47381000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr11:47376200-47380200	Strong transcription	Primary hematopoietic stem cells	blood
10	chr11:47376800-47381400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr11:47377200-47378200	Genic enhancers	Gastric	stomach
12	chr11:47377200-47378400	Genic enhancers	Spleen	Spleen
13	chr11:47377200-47378600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:47377200-47378800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:47377200-47386600	Weak transcription	Right Atrium	heart
16	chr11:47377200-47391400	Weak transcription	Psoas Muscle	Psoas
17	chr11:47377200-47397800	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:47377400-47378200	Weak transcription	Fetal Intestine Small	intestine
19	chr11:47377400-47378400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:47377400-47378400	ZNF genes & repeats	Fetal Kidney	kidney
21	chr11:47377400-47378800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:47377400-47379000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:47377400-47380400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr11:47377600-47378000	Enhancers	Colonic Mucosa	Colon
25	chr11:47377600-47378200	Weak transcription	Brain Anterior Caudate	brain
26	chr11:47377600-47378400	Weak transcription	Lung	lung
27	chr11:47377600-47378600	Strong transcription	Pancreas	Pancrea
28	chr11:47377600-47378800	Strong transcription	Adipose Nuclei	Adipose
29	chr11:47377600-47380200	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr11:47377600-47380800	Weak transcription	Brain Hippocampus Middle	brain
31	chr11:47377600-47381000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr11:47377600-47381000	Weak transcription	Placenta	Placenta
33	chr11:47377600-47396800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:47377600-47397600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:47377600-47397800	Weak transcription	Brain Substantia Nigra	brain
36	chr11:47377800-47378000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:47377800-47378000	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr11:47377800-47378000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr11:47377800-47378000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:47377800-47378000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:47377800-47378400	Enhancers	Esophagus	oesophagus
42	chr11:47377800-47378600	Weak transcription	Fetal Lung	lung
43	chr11:47377800-47379400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:47377800-47379400	Weak transcription	Right Ventricle	heart
45	chr11:47377800-47379800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:47377800-47379800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:47377800-47380200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:47377800-47380800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:47377800-47382200	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:47377800-47382600	Weak transcription	Fetal Heart	heart

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