Variant report

Variant	esv3382440
Chromosome Location	chr11:93453185-93453705
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	chr11:93453439-93453702	IMR90	lung:	n/a	n/a
2	CEBPB	chr11:93453481-93453706	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr11:93453673-93453678	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr11:93453556-93453640	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93451779..93453500-chr11:93464766..93467627,2	MCF-7	breast:
2	chr11:93449498..93453225-chr11:93454888..93458363,6	K562	blood:

Variant related genes	Relation type
KIAA1731	TF binding region
SCARNA9	TF binding region
ENSG00000207304	chromatin interactions
ENSG00000166004	chromatin interactions
ENSG00000221170	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000254911	chromatin interactions
ENSG00000239195	chromatin interactions
ENSG00000207145	chromatin interactions
ENSG00000206834	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11371094	chr11:93453228-93453229	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs397810895	chr11:93453242-93453243	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs12803913	chr11:93453249-93453250	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571677564	chr11:93453276-93453277	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs147989826	chr11:93453281-93453282	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs372047768	chr11:93453288-93453289	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs571333730	chr11:93453340-93453341	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs532266812	chr11:93453357-93453358	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs190534502	chr11:93453396-93453397	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs2434985	chr11:93453404-93453405	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs111936415	chr11:93453414-93453415	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs7950893	chr11:93453436-93453437	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs371565521	chr11:93453437-93453438	Weak transcription Strong transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs529888439	chr11:93453454-93453455	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs566761602	chr11:93453455-93453456	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs7115167	chr11:93453474-93453475	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs558346479	chr11:93453534-93453535	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs7129028	chr11:93453547-93453548	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs544325822	chr11:93453588-93453589	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs371923309	chr11:93453597-93453598	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs556503151	chr11:93453627-93453628	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs530395939	chr11:93453639-93453640	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs78533670	chr11:93453642-93453643	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs11020502	chr11:93453655-93453656	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs34039567	chr11:93453656-93453657	Weak transcription Strong transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Cervical cancer	21062161	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	16608533	CNVD
T-cell lymphomas	19863542	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	17690704	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
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Renal cell carcinoma	18194544	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	CNVD
Cancer	21499728	CNVD
Breast cancer	19181860	CNVD
Breast cancer	17603634	CNVD
Mantle cell lymphoma	19029149	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Basal cell lymphoma	16790693	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:135 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93427000-93465800	Strong transcription	Hela-S3	cervix
2	chr11:93430800-93465400	Weak transcription	Stomach Mucosa	stomach
3	chr11:93436000-93454600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:93440200-93460000	Weak transcription	NHLF	lung
5	chr11:93441600-93461200	Weak transcription	HSMMtube	muscle
6	chr11:93442000-93463200	Weak transcription	Colonic Mucosa	Colon
7	chr11:93442200-93454200	Weak transcription	NH-A	brain
8	chr11:93442800-93460000	Weak transcription	Fetal Brain Male	brain
9	chr11:93443600-93454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:93443600-93460200	Weak transcription	NHDF-Ad	bronchial
11	chr11:93444000-93454400	Weak transcription	A549	lung
12	chr11:93444000-93454400	Weak transcription	HMEC	breast
13	chr11:93444000-93455200	Weak transcription	Brain Angular Gyrus	brain
14	chr11:93444000-93466400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr11:93444200-93454400	Weak transcription	Fetal Heart	heart
16	chr11:93444200-93462200	Weak transcription	Psoas Muscle	Psoas
17	chr11:93444800-93471000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:93445400-93458600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:93445400-93465200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:93445800-93454400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:93446200-93454800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr11:93447200-93459800	Strong transcription	Fetal Stomach	stomach
23	chr11:93447600-93457800	Strong transcription	Liver	Liver
24	chr11:93447600-93468000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr11:93448000-93460000	Strong transcription	Fetal Intestine Small	intestine
26	chr11:93448000-93465600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:93448600-93461400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:93448600-93465400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:93449000-93462200	Weak transcription	Small Intestine	intestine
30	chr11:93449200-93462400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:93449200-93471800	Weak transcription	Right Atrium	heart
32	chr11:93449400-93454400	Weak transcription	Fetal Kidney	kidney
33	chr11:93449400-93455000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:93449400-93455600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr11:93449400-93458800	Weak transcription	Brain Substantia Nigra	brain
36	chr11:93449400-93461600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:93449400-93463800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:93449400-93465400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:93449600-93455000	Weak transcription	Brain Anterior Caudate	brain
40	chr11:93449600-93457400	Weak transcription	Fetal Brain Female	brain
41	chr11:93449600-93462200	Weak transcription	Spleen	Spleen
42	chr11:93449600-93462400	Weak transcription	Right Ventricle	heart
43	chr11:93449600-93471800	Weak transcription	Esophagus	oesophagus
44	chr11:93450000-93454400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr11:93450000-93454800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:93450000-93455200	Weak transcription	Left Ventricle	heart
47	chr11:93450000-93458800	Weak transcription	Lung	lung
48	chr11:93450000-93459400	Weak transcription	Aorta	Aorta
49	chr11:93450000-93462200	Weak transcription	Pancreas	Pancrea
50	chr11:93450200-93454600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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