Variant report

Variant	esv3438106
Chromosome Location	chr22:30268924-30269449
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30269255..30271141-chr22:30271794..30273974,2	MCF-7	breast:
2	chr22:30267624..30270362-chr22:30273098..30276358,3	K562	blood:
3	chr22:30208644..30211473-chr22:30268127..30270343,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146676866	chr22:30268927-30268928	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550898196	chr22:30268942-30268943	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569226461	chr22:30268947-30268948	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs140234359	chr22:30268990-30268991	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs529665953	chr22:30268995-30268996	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78500986	chr22:30269023-30269024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs138485761	chr22:30269040-30269041	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376457981	chr22:30269044-30269045	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553006694	chr22:30269048-30269049	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs55738483	chr22:30269093-30269094	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs574109578	chr22:30269114-30269115	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538120688	chr22:30269130-30269131	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556461149	chr22:30269141-30269142	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs74728854	chr22:30269225-30269226	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs9625871	chr22:30269238-30269239	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577887418	chr22:30269239-30269240	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573113249	chr22:30269255-30269256	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190911869	chr22:30269256-30269257	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141394243	chr22:30269270-30269271	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559013822	chr22:30269277-30269278	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374817125	chr22:30269280-30269281	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs575877994	chr22:30269366-30269367	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs77854515	chr22:30269378-30269379	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs12166087	chr22:30269431-30269432	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30265800-30269200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr22:30265800-30270200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr22:30266800-30269400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr22:30266800-30270000	Enhancers	Psoas Muscle	Psoas
5	chr22:30267000-30269000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr22:30267200-30269000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr22:30267600-30269000	Enhancers	Adipose Nuclei	Adipose
8	chr22:30267600-30269200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:30267600-30269400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr22:30267600-30269400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:30267600-30269600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr22:30267600-30270200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr22:30267800-30269000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr22:30267800-30269400	Enhancers	Primary hematopoietic stem cells	blood
15	chr22:30267800-30270000	Enhancers	Primary B cells from cord blood	blood
16	chr22:30268000-30269000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr22:30268000-30269200	Weak transcription	NHEK	skin
18	chr22:30268000-30269600	Enhancers	Pancreas	Pancrea
19	chr22:30268200-30269000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr22:30268200-30269600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr22:30268200-30270200	Enhancers	Spleen	Spleen
22	chr22:30268400-30269400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr22:30268600-30273800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:30268800-30269400	Weak transcription	Right Atrium	heart
25	chr22:30268800-30270000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:30268800-30270000	Weak transcription	GM12878-XiMat	blood
27	chr22:30268800-30277800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:30268800-30279000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr22:30269000-30270200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr22:30269000-30278800	Weak transcription	Adipose Nuclei	Adipose
31	chr22:30269200-30270200	Enhancers	NHEK	skin
32	chr22:30269400-30269600	Enhancers	Right Atrium	heart
33	chr22:30269400-30270000	Enhancers	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links