Variant report

Variant	esv3331770
Chromosome Location	chr11:5677976-5680174
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	11:5671653-5683012..11:5714465-5718134	GM12878	blood:

Variant related genes	Relation type
ENSG00000132274	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200292185	chr11:5678003-5678004	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs567802031	chr11:5678090-5678091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144328260	chr11:5678094-5678095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs556466496	chr11:5678096-5678097	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571592802	chr11:5678109-5678110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538910945	chr11:5678110-5678111	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553771871	chr11:5678117-5678118	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs572357985	chr11:5678134-5678135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs7934944	chr11:5678161-5678162	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs372764230	chr11:5678212-5678213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs376767926	chr11:5678221-5678222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546200290	chr11:5678251-5678252	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs555039271	chr11:5678254-5678255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs576206191	chr11:5678257-5678258	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs35702907	chr11:5678344-5678345	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201305078	chr11:5678348-5678349	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs34138160	chr11:5678393-5678394	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs55887221	chr11:5678414-5678415	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs36105980	chr11:5678418-5678419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs566465853	chr11:5678436-5678437	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79457142	chr11:5678459-5678460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs76343083	chr11:5678461-5678462	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs74954449	chr11:5678468-5678469	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62282752	chr11:5678472-5678473	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79017973	chr11:5678478-5678479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs36198309	chr11:5678492-5678493	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532465760	chr11:5678501-5678502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs36199147	chr11:5678511-5678512	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184385716	chr11:5678513-5678514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78196924	chr11:5678523-5678524	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs189091031	chr11:5678541-5678542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79041125	chr11:5678569-5678570	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78100698	chr11:5678595-5678596	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78706995	chr11:5678604-5678605	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79075401	chr11:5678610-5678611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374415388	chr11:5678626-5678627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs181189841	chr11:5678628-5678629	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186627876	chr11:5678638-5678639	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548024880	chr11:5678658-5678659	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs569710285	chr11:5678711-5678712	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs150863374	chr11:5678720-5678721	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs531819762	chr11:5678732-5678733	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs200815234	chr11:5678766-5678767	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200764451	chr11:5678785-5678786	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557343149	chr11:5678787-5678788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549978328	chr11:5678793-5678794	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571479711	chr11:5678794-5678795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs538950130	chr11:5678795-5678796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs548669193	chr11:5678821-5678822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs554004213	chr11:5678826-5678827	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	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
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	23613489	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5647000-5698800	Weak transcription	Colonic Mucosa	Colon
2	chr11:5647400-5689400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:5647800-5690600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr11:5649200-5695600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:5656400-5684600	Weak transcription	Osteobl	bone
6	chr11:5656400-5688800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:5664000-5685000	Weak transcription	Fetal Thymus	thymus
8	chr11:5664000-5686200	Weak transcription	Small Intestine	intestine
9	chr11:5664000-5686200	Weak transcription	Thymus	Thymus
10	chr11:5664000-5699400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:5665400-5682600	Weak transcription	Primary T cells from cord blood	blood
12	chr11:5665400-5682600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:5665400-5685200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:5665400-5685400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:5665400-5685400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr11:5665400-5685400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr11:5665400-5685600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:5665400-5685600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:5665400-5685600	Weak transcription	GM12878-XiMat	blood
20	chr11:5665400-5685800	Weak transcription	Esophagus	oesophagus
21	chr11:5665400-5685800	Weak transcription	Ovary	ovary
22	chr11:5665400-5685800	Weak transcription	Spleen	Spleen
23	chr11:5665600-5682800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:5665600-5682800	Weak transcription	Gastric	stomach
25	chr11:5665600-5685200	Weak transcription	Fetal Intestine Large	intestine
26	chr11:5665600-5685400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:5665600-5685600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr11:5666000-5684800	Weak transcription	Primary B cells from cord blood	blood
29	chr11:5666200-5682800	Weak transcription	Liver	Liver
30	chr11:5666200-5682800	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr11:5666400-5684000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:5666400-5685000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:5666400-5685600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:5666400-5690800	Weak transcription	Lung	lung
35	chr11:5666400-5699400	Weak transcription	Left Ventricle	heart
36	chr11:5667000-5685600	Weak transcription	Placenta	Placenta
37	chr11:5673800-5682600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:5673800-5686200	Weak transcription	Aorta	Aorta
39	chr11:5674000-5685600	Weak transcription	Adipose Nuclei	Adipose
40	chr11:5674800-5684000	Weak transcription	Fetal Muscle Leg	muscle
41	chr11:5674800-5705400	Weak transcription	Psoas Muscle	Psoas
42	chr11:5675200-5683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:5675600-5685600	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:5676000-5685600	Weak transcription	Fetal Lung	lung
45	chr11:5676000-5699400	Weak transcription	Pancreas	Pancrea
46	chr11:5676200-5682800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:5677200-5684000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:5678000-5699400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr11:5678800-5685600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:5679600-5682800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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