Variant report

Variant	esv3417419
Chromosome Location	chr22:29966229-29966587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29961562..29963537-chr22:29964937..29966766,2	MCF-7	breast:
2	chr22:29964781..29966477-chr22:29968407..29970909,2	K562	blood:
3	chr22:29945659..29949837-chr22:29966169..29968627,4	MCF-7	breast:
4	chr22:29959743..29962001-chr22:29963309..29966243,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100296	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200149106	chr22:29966242-29966243	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138594243	chr22:29966286-29966287	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs457930	chr22:29966317-29966318	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs529849353	chr22:29966367-29966368	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs112041505	chr22:29966401-29966402	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs149215782	chr22:29966409-29966410	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs202037649	chr22:29966420-29966421	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538441678	chr22:29966426-29966427	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs550071052	chr22:29966431-29966432	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571628816	chr22:29966437-29966438	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201191849	chr22:29966487-29966488	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375062530	chr22:29966518-29966519	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369569554	chr22:29966548-29966549	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs200267110	chr22:29966549-29966550	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs371336862	chr22:29966550-29966551	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs202055867	chr22:29966551-29966552	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs374785221	chr22:29966552-29966553	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182507356	chr22:29966558-29966559	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs143371822	chr22:29966576-29966577	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs28549207	chr22:29966586-29966587	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Myelodysplastic syndrome	21251322	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	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
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	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
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29950200-29976000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:29950400-29976200	Weak transcription	HMEC	breast
3	chr22:29950600-29967400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:29950600-29967600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:29950600-29968000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:29950600-29971600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29950800-29966400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr22:29950800-29966800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr22:29950800-29967000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr22:29950800-29976200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr22:29951000-29966600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr22:29951000-29966800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:29951000-29967400	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr22:29951000-29967400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr22:29951000-29967600	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr22:29951200-29966400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:29951200-29967600	Strong transcription	Fetal Muscle Trunk	muscle
18	chr22:29951200-29971400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:29951600-29971600	Strong transcription	Fetal Stomach	stomach
20	chr22:29952000-29966600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr22:29952000-29976400	Weak transcription	Right Atrium	heart
22	chr22:29955000-29976000	Weak transcription	NHEK	skin
23	chr22:29955400-29976000	Weak transcription	HUVEC	blood vessel
24	chr22:29957400-29976200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr22:29957600-29976200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr22:29957800-29968400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr22:29958000-29975800	Weak transcription	Stomach Mucosa	stomach
28	chr22:29958400-29976000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr22:29958400-29976200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr22:29958400-29976400	Weak transcription	Primary B cells from cord blood	blood
31	chr22:29958400-29976400	Weak transcription	NHDF-Ad	bronchial
32	chr22:29958600-29976200	Weak transcription	HSMM	muscle
33	chr22:29959400-29966400	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr22:29959400-29966600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:29959400-29966600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr22:29959400-29967000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr22:29959400-29967000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr22:29959400-29967200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr22:29959400-29967200	Strong transcription	Fetal Muscle Leg	muscle
40	chr22:29959400-29967600	Strong transcription	Primary T cells from cord blood	blood
41	chr22:29959600-29967000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr22:29959600-29967000	Strong transcription	Duodenum Mucosa	Duodenum
43	chr22:29959600-29967600	Strong transcription	Fetal Brain Female	brain
44	chr22:29959800-29967200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr22:29959800-29967600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:29960000-29966600	Strong transcription	Fetal Thymus	thymus
47	chr22:29960800-29966800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr22:29961000-29967800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr22:29961000-29975800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr22:29961800-29974600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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