Variant report

Variant	esv3343838
Chromosome Location	chr22:31872928-31873423
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
2	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
3	22:31864703-31891033..22:32347255-32351014	K562	blood:

Variant related genes	Relation type
ENSG00000238910	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000229169	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577789609	chr22:31872936-31872937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs534003406	chr22:31872950-31872951	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs574308270	chr22:31872967-31872968	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs553827036	chr22:31872982-31872983	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572433695	chr22:31872986-31872987	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs190691057	chr22:31872987-31872988	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs562554005	chr22:31873000-31873001	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs181537890	chr22:31873013-31873014	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs545708068	chr22:31873028-31873029	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs565304538	chr22:31873047-31873048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs77266416	chr22:31873048-31873049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs185971632	chr22:31873050-31873051	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs138223498	chr22:31873062-31873063	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs145537367	chr22:31873066-31873067	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs5997997	chr22:31873069-31873070	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs529037227	chr22:31873072-31873073	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs549095127	chr22:31873104-31873105	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs548957832	chr22:31873113-31873114	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs11913433	chr22:31873121-31873122	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs568311896	chr22:31873200-31873201	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs373345123	chr22:31873209-31873210	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs551669761	chr22:31873219-31873220	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs138825088	chr22:31873236-31873237	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs571485074	chr22:31873253-31873254	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs533735180	chr22:31873262-31873263	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs190043077	chr22:31873272-31873273	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs567380257	chr22:31873287-31873288	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs113058788	chr22:31873301-31873302	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs9606845	chr22:31873308-31873309	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs556107699	chr22:31873318-31873319	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs576397676	chr22:31873352-31873353	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs534047963	chr22:31873361-31873362	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs555002263	chr22:31873370-31873371	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs55694512	chr22:31873376-31873377	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs572699534	chr22:31873411-31873412	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Breast cancer	17142309	CNVD
Autism	22543975	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31797000-31884400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31797000-31884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr22:31815000-31883400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:31823600-31884600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr22:31836200-31873600	Weak transcription	Stomach Mucosa	stomach
6	chr22:31847600-31881800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr22:31848800-31883000	Weak transcription	Fetal Heart	heart
8	chr22:31850800-31876800	Weak transcription	Esophagus	oesophagus
9	chr22:31854800-31884600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr22:31856800-31885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:31858200-31877800	Weak transcription	Fetal Brain Male	brain
12	chr22:31858400-31884600	Weak transcription	Psoas Muscle	Psoas
13	chr22:31859000-31875200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:31859200-31873600	Weak transcription	A549	lung
15	chr22:31859400-31873800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr22:31859400-31883800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr22:31859400-31884800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:31859800-31873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr22:31860000-31873800	Weak transcription	Colonic Mucosa	Colon
20	chr22:31860000-31882600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr22:31860200-31875800	Weak transcription	Brain Angular Gyrus	brain
22	chr22:31860200-31884800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr22:31861600-31873600	Weak transcription	NHEK	skin
24	chr22:31863000-31877600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr22:31863400-31879400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr22:31864000-31875000	Weak transcription	Fetal Kidney	kidney
27	chr22:31864200-31875600	Weak transcription	HMEC	breast
28	chr22:31864400-31877600	Weak transcription	Small Intestine	intestine
29	chr22:31864400-31879800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr22:31864400-31884400	Weak transcription	Brain Substantia Nigra	brain
31	chr22:31864400-31884600	Weak transcription	Aorta	Aorta
32	chr22:31864600-31884600	Weak transcription	Right Ventricle	heart
33	chr22:31864800-31873600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:31865000-31873600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:31865200-31876800	Weak transcription	Gastric	stomach
36	chr22:31865400-31873600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr22:31865400-31877000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr22:31865600-31873400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr22:31865600-31876000	Weak transcription	Fetal Lung	lung
40	chr22:31865600-31877200	Weak transcription	K562	blood
41	chr22:31865600-31877200	Weak transcription	NHLF	lung
42	chr22:31865800-31873600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr22:31865800-31873600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr22:31865800-31873600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr22:31865800-31876600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:31865800-31877000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr22:31865800-31877400	Weak transcription	Spleen	Spleen
48	chr22:31865800-31877600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr22:31865800-31880000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr22:31866800-31877000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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