Variant report

Variant	esv3456067
Chromosome Location	chr22:29177270-29177710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29175785..29179613-chr22:29195586..29198060,4	K562	blood:
2	chr22:29172058..29177577-chr22:29178390..29181662,9	MCF-7	breast:
3	chr22:29165791..29171536-chr22:29171828..29178249,15	MCF-7	breast:
4	chr22:29136406..29138475-chr22:29177322..29179599,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100219	chromatin interactions
ENSG00000159873	chromatin interactions
ENSG00000226471	chromatin interactions
ENSG00000183765	chromatin interactions
ENSG00000100209	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370034121	chr22:29177285-29177286	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs73881140	chr22:29177301-29177302	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs369179044	chr22:29177310-29177311	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs528052036	chr22:29177313-29177314	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs373364743	chr22:29177318-29177319	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs5762791	chr22:29177319-29177320	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs5762792	chr22:29177324-29177325	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs5762793	chr22:29177328-29177329	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs561396424	chr22:29177361-29177362	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs528950403	chr22:29177367-29177368	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs550441206	chr22:29177369-29177370	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs573937446	chr22:29177374-29177375	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs563889849	chr22:29177377-29177378	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs531038768	chr22:29177378-29177379	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs552806450	chr22:29177381-29177382	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs571176278	chr22:29177385-29177386	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs534975128	chr22:29177388-29177389	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs547020326	chr22:29177399-29177400	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs568515311	chr22:29177401-29177402	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs535935849	chr22:29177402-29177403	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs557210553	chr22:29177407-29177408	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs575375433	chr22:29177414-29177415	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs539279279	chr22:29177439-29177440	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs112461578	chr22:29177454-29177455	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs112386529	chr22:29177459-29177460	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs111421002	chr22:29177476-29177477	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs557599973	chr22:29177485-29177486	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs572814055	chr22:29177486-29177487	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs111894659	chr22:29177499-29177500	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs13057785	chr22:29177502-29177503	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs13056452	chr22:29177525-29177526	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs13056453	chr22:29177527-29177528	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs113891285	chr22:29177582-29177583	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs540180073	chr22:29177588-29177589	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs187005157	chr22:29177631-29177632	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs111244676	chr22:29177635-29177636	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs115253634	chr22:29177678-29177679	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs192709431	chr22:29177685-29177686	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs145088883	chr22:29177707-29177708	Weak transcription Strong transcription	Chromatin interactive region	5 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
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	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
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29169800-29179600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:29169800-29180000	Weak transcription	Colonic Mucosa	Colon
3	chr22:29169800-29180200	Weak transcription	Stomach Mucosa	stomach
4	chr22:29169800-29190400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:29170000-29177600	Weak transcription	Aorta	Aorta
6	chr22:29170000-29179200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:29170000-29179600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr22:29170000-29182200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr22:29170000-29190200	Weak transcription	Fetal Heart	heart
10	chr22:29170000-29194200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr22:29170200-29177800	Weak transcription	HMEC	breast
12	chr22:29170200-29178000	Weak transcription	Brain Anterior Caudate	brain
13	chr22:29170200-29178800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:29170200-29182400	Strong transcription	Fetal Stomach	stomach
15	chr22:29170400-29177800	Strong transcription	Fetal Intestine Large	intestine
16	chr22:29170400-29183800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr22:29170400-29184000	Strong transcription	Fetal Muscle Leg	muscle
18	chr22:29170400-29185600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr22:29170600-29184600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr22:29170600-29184800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr22:29170600-29185400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr22:29170600-29186000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:29170600-29186400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:29170800-29179800	Weak transcription	Fetal Brain Male	brain
25	chr22:29170800-29186400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:29171000-29178000	Weak transcription	Brain Angular Gyrus	brain
27	chr22:29171000-29179600	Weak transcription	Small Intestine	intestine
28	chr22:29171000-29185600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr22:29171200-29178600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr22:29171200-29179000	Weak transcription	Brain Substantia Nigra	brain
31	chr22:29171200-29179200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:29171200-29186800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:29171200-29188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:29171400-29179600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr22:29171400-29186000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:29171600-29178000	Weak transcription	Fetal Kidney	kidney
37	chr22:29171800-29178000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr22:29171800-29186200	Strong transcription	Fetal Thymus	thymus
39	chr22:29172000-29179400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr22:29172200-29177800	Weak transcription	Brain Germinal Matrix	brain
41	chr22:29172200-29179600	Weak transcription	NHLF	lung
42	chr22:29172400-29178000	Weak transcription	Right Ventricle	heart
43	chr22:29172400-29178000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr22:29172400-29179200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr22:29172400-29179400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:29172400-29186200	Strong transcription	Placenta	Placenta
47	chr22:29172600-29184200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr22:29173000-29178600	Weak transcription	A549	lung
49	chr22:29173200-29185600	Strong transcription	Left Ventricle	heart
50	chr22:29173600-29179200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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