Variant report

Variant	esv1798854
Chromosome Location	chr2:33708860-33720009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:33708290..33711080-chr2:33714152..33717140,3	K562	blood:
2	chr2:33718664..33721605-chr2:33823247..33825969,2	MCF-7	breast:
3	chr2:33708290..33711080-chr2:33714152..33717140,3	K562	blood:
4	chr2:33700002..33701535-chr2:33708828..33711417,2	K562	blood:

Variant related genes	Relation type
ENSG00000119812	chromatin interactions
ENSG00000152689	chromatin interactions

Extended variants
information (count: 470 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17594787	chr2:33708860-33708861	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs193014979	chr2:33708927-33708928	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150564945	chr2:33708999-33709000	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555103498	chr2:33709040-33709041	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs369709497	chr2:33709087-33709088	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs4338943	chr2:33709092-33709093	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567445674	chr2:33709108-33709109	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547688481	chr2:33709187-33709188	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs556564668	chr2:33709198-33709199	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs185633135	chr2:33709227-33709228	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs545932981	chr2:33709261-33709262	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs559189699	chr2:33709373-33709374	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs572857321	chr2:33709377-33709378	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs17013123	chr2:33709443-33709444	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs561839116	chr2:33709447-33709448	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530856739	chr2:33709485-33709486	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550878544	chr2:33709537-33709538	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190488764	chr2:33709563-33709564	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs75020547	chr2:33709576-33709577	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs377393603	chr2:33709589-33709590	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs552497649	chr2:33709604-33709605	Genic enhancers Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181823159	chr2:33709780-33709781	Genic enhancers Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149334675	chr2:33709797-33709798	Genic enhancers Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369202785	chr2:33709803-33709804	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs13407192	chr2:33709806-33709807	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs370736366	chr2:33709820-33709821	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548517137	chr2:33709826-33709827	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs183709816	chr2:33709829-33709830	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs537379011	chr2:33709885-33709886	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs79880849	chr2:33709889-33709890	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577078766	chr2:33709895-33709896	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs17013126	chr2:33709961-33709962	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs369699159	chr2:33709988-33709989	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs200771923	chr2:33709992-33709993	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541888336	chr2:33710030-33710031	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs386644603	chr2:33710040-33710041	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs57647413	chr2:33710042-33710043	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528522619	chr2:33710047-33710048	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs544565034	chr2:33710055-33710056	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs144638933	chr2:33710094-33710095	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs564375707	chr2:33710108-33710109	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs533212080	chr2:33710142-33710143	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540296171	chr2:33710187-33710188	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs566233853	chr2:33710195-33710196	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs561869051	chr2:33710205-33710206	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548259327	chr2:33710221-33710222	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs568353291	chr2:33710222-33710223	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs147867044	chr2:33710225-33710226	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs17013129	chr2:33710289-33710290	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
50	rs188128286	chr2:33710310-33710311	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33703200-33709200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr2:33703600-33711800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:33703600-33715600	Weak transcription	Spleen	Spleen
4	chr2:33704800-33717600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:33705000-33710800	Enhancers	Fetal Heart	heart
6	chr2:33705000-33714000	Weak transcription	Right Ventricle	heart
7	chr2:33705200-33709400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:33705600-33709600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr2:33705600-33710000	Weak transcription	Pancreas	Pancrea
10	chr2:33705800-33709000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:33705800-33709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:33705800-33709600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr2:33706000-33709200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:33706000-33714400	Weak transcription	Right Atrium	heart
15	chr2:33706200-33709200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:33707400-33710600	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:33707600-33709000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:33707600-33709200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:33708000-33709000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:33708000-33709600	Enhancers	Primary B cells from cord blood	blood
21	chr2:33708000-33713600	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:33708600-33709000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:33708600-33709000	Enhancers	Left Ventricle	heart
24	chr2:33708600-33709000	Enhancers	Psoas Muscle	Psoas
25	chr2:33708600-33710400	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:33708600-33710600	Enhancers	Primary B cells from peripheral blood	blood
27	chr2:33708600-33710600	Enhancers	NHDF-Ad	bronchial
28	chr2:33708800-33709000	Enhancers	Fetal Muscle Trunk	muscle
29	chr2:33708800-33709000	Enhancers	Osteobl	bone
30	chr2:33708800-33710000	Enhancers	HSMMtube	muscle
31	chr2:33708800-33710400	Flanking Active TSS	GM12878-XiMat	blood
32	chr2:33709000-33709200	Bivalent Enhancer	Osteobl	bone
33	chr2:33709000-33709400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr2:33709000-33709600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:33709000-33709800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:33709000-33710000	Weak transcription	Left Ventricle	heart
37	chr2:33709000-33710000	Weak transcription	Psoas Muscle	Psoas
38	chr2:33709000-33710200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:33709200-33709400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr2:33709200-33709400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
41	chr2:33709200-33709600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:33709200-33709800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:33709200-33709800	Enhancers	HepG2	liver
44	chr2:33709200-33709800	Flanking Active TSS	Osteobl	bone
45	chr2:33709200-33710000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:33709200-33710200	Enhancers	NHLF	lung
47	chr2:33709400-33710600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr2:33709600-33709800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:33709600-33710400	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr2:33709600-33710400	Enhancers	Primary hematopoietic stem cells	blood

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