Variant report

Variant	esv3528711
Chromosome Location	chr22:29695883-29696135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29666189..29669898-chr22:29695758..29699606,3	K562	blood:
2	chr22:29684504..29686198-chr22:29694091..29696535,2	MCF-7	breast:
3	chr22:29661802..29668258-chr22:29692795..29700190,12	K562	blood:
4	chr22:29690273..29693453-chr22:29694062..29696820,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182944	chromatin interactions
ENSG00000100263	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2518683	chr22:29695929-29695930	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs533175309	chr22:29695944-29695945	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73884711	chr22:29695999-29696000	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs566648838	chr22:29696018-29696019	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs201944550	chr22:29696045-29696046	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs367983755	chr22:29696061-29696062	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552437640	chr22:29696064-29696065	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs562390957	chr22:29696069-29696070	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs202084111	chr22:29696085-29696086	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376150806	chr22:29696088-29696089	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs369472928	chr22:29696089-29696090	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs374188778	chr22:29696090-29696091	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs377197628	chr22:29696093-29696094	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs537414815	chr22:29696095-29696096	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs370029815	chr22:29696109-29696110	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113670603	chr22:29696111-29696112	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145953477	chr22:29696113-29696114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
abnormal development	18461090	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

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29667600-29697800	Strong transcription	Fetal Muscle Trunk	muscle
2	chr22:29667800-29697000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:29667800-29697200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:29667800-29697800	Strong transcription	Fetal Thymus	thymus
5	chr22:29668000-29697000	Strong transcription	NHEK	skin
6	chr22:29668000-29697200	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr22:29668000-29697200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:29668000-29697600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:29668000-29697600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr22:29668000-29698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:29668000-29698200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:29668200-29697000	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr22:29668200-29697400	Strong transcription	HMEC	breast
14	chr22:29668200-29697600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr22:29668200-29697800	Strong transcription	Fetal Muscle Leg	muscle
16	chr22:29668200-29698000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr22:29668200-29698400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:29668200-29698400	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr22:29668400-29697200	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr22:29668400-29698000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr22:29668600-29697600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr22:29668600-29698000	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr22:29668800-29697000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr22:29668800-29697000	Strong transcription	Fetal Lung	lung
25	chr22:29668800-29697200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr22:29668800-29697200	Strong transcription	Osteobl	bone
27	chr22:29668800-29697800	Strong transcription	HSMM	muscle
28	chr22:29669000-29696000	Strong transcription	HUVEC	blood vessel
29	chr22:29669000-29697200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr22:29669000-29697200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:29669000-29697200	Strong transcription	NH-A	brain
32	chr22:29669000-29698400	Strong transcription	Thymus	Thymus
33	chr22:29669200-29697200	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr22:29669200-29698000	Strong transcription	Fetal Brain Female	brain
35	chr22:29669400-29696600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr22:29669400-29697000	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr22:29669400-29697400	Strong transcription	NHLF	lung
38	chr22:29669400-29698400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr22:29669400-29698400	Strong transcription	Brain Germinal Matrix	brain
40	chr22:29669600-29697000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr22:29669600-29697200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr22:29670400-29697600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr22:29670600-29702400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr22:29671800-29697200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:29672200-29697400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:29672600-29698800	Strong transcription	Fetal Stomach	stomach
47	chr22:29672800-29697600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr22:29673200-29697000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr22:29673200-29697000	Strong transcription	Left Ventricle	heart
50	chr22:29673200-29697000	Strong transcription	HepG2	liver

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