Variant report

Variant	esv2067033
Chromosome Location	chr22:30214206-30214655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30214615-30215035	GM12891	blood:	n/a	n/a
2	POLR2A	chr22:30214471-30215186	GM12878	blood:	n/a	n/a
3	POLR2A	chr22:30214588-30214761	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:30214532-30215137	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30212293..30214646-chr22:30228307..30229827,2	MCF-7	breast:
2	chr22:30200496..30202537-chr22:30212324..30214845,2	MCF-7	breast:
3	chr22:30207717..30211289-chr22:30214169..30217331,4	K562	blood:

Variant related genes	Relation type
ASCC2	TF binding region
ENSG00000100325	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375975804	chr22:30214217-30214218	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs58538392	chr22:30214333-30214334	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs35685093	chr22:30214393-30214394	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527291547	chr22:30214405-30214406	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373461797	chr22:30214411-30214412	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs537315284	chr22:30214447-30214448	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558908040	chr22:30214448-30214449	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs56755426	chr22:30214452-30214453	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs57701410	chr22:30214460-30214461	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs71196696	chr22:30214464-30214465	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs60665668	chr22:30214466-30214467	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs575303915	chr22:30214521-30214522	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs200839504	chr22:30214529-30214530	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112630224	chr22:30214644-30214645	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs534521403	chr22:30214645-30214646	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region 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
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
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
Breast cancer	22522925	CNVD

Chromatin state (count:139 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
3	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
4	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
5	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
6	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr22:30183400-30224000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr22:30183800-30224000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr22:30184000-30222200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:30191000-30222200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:30193400-30217200	Strong transcription	Fetal Thymus	thymus
15	chr22:30195400-30222000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:30195400-30222200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr22:30196000-30217000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr22:30196200-30215400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:30196200-30217200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr22:30196200-30217200	Strong transcription	Duodenum Mucosa	Duodenum
21	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:30196200-30222200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:30196400-30221200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:30197000-30222200	Strong transcription	Dnd41	blood
25	chr22:30197400-30216000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr22:30197400-30216200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr22:30199200-30222000	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr22:30203600-30233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr22:30204200-30217000	Weak transcription	Fetal Heart	heart
30	chr22:30205800-30215800	Strong transcription	Aorta	Aorta
31	chr22:30205800-30216000	Strong transcription	Spleen	Spleen
32	chr22:30205800-30217000	Strong transcription	Fetal Intestine Large	intestine
33	chr22:30205800-30222000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr22:30206000-30214800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr22:30206000-30215800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr22:30206000-30217000	Strong transcription	GM12878-XiMat	blood
37	chr22:30206000-30221800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr22:30206000-30221800	Strong transcription	Brain Anterior Caudate	brain
39	chr22:30206200-30214600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr22:30206200-30215600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:30206600-30216000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:30206600-30216400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr22:30208000-30217800	Strong transcription	Primary B cells from cord blood	blood
44	chr22:30208600-30216000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr22:30208600-30217200	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr22:30208800-30214600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:30208800-30216000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr22:30208800-30231000	Strong transcription	Brain Germinal Matrix	brain
49	chr22:30208800-30231200	Strong transcription	Lung	lung
50	chr22:30208800-30233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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