Variant report

Variant	esv1825528
Chromosome Location	chr22:30282800-30295577
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30280125..30281940-chr22:30289079..30291294,2	MCF-7	breast:
2	chr22:30289517..30291568-chr22:30301427..30303381,2	K562	blood:
3	chr22:30288615..30290652-chr22:30302494..30304851,2	MCF-7	breast:

Extended variants
information (count: 501 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:501 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538003428	chr22:30282833-30282834	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs556125240	chr22:30282844-30282845	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs577314031	chr22:30282850-30282851	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538373725	chr22:30282862-30282863	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs553466807	chr22:30282927-30282928	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571681540	chr22:30282975-30282976	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs542261744	chr22:30282982-30282983	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188434583	chr22:30283005-30283006	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562366791	chr22:30283060-30283061	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs147729521	chr22:30283076-30283077	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs544790804	chr22:30283088-30283089	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142531489	chr22:30283129-30283130	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533452202	chr22:30283140-30283141	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555002663	chr22:30283151-30283152	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181215891	chr22:30283154-30283155	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs560588510	chr22:30283159-30283160	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs146660735	chr22:30283194-30283195	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs117966542	chr22:30283202-30283203	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs576881575	chr22:30283218-30283219	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs12167525	chr22:30283226-30283227	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs567542448	chr22:30283269-30283270	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs545855080	chr22:30283329-30283330	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs186488551	chr22:30283339-30283340	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs76882731	chr22:30283347-30283348	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs549926249	chr22:30283357-30283358	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs540799419	chr22:30283388-30283389	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs367693599	chr22:30283394-30283395	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs371830705	chr22:30283399-30283400	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190982896	chr22:30283403-30283404	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs151277461	chr22:30283436-30283437	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs571819074	chr22:30283470-30283471	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs181051638	chr22:30283477-30283478	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs73161099	chr22:30283504-30283505	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs187208473	chr22:30283512-30283513	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs544615212	chr22:30283548-30283549	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs140481892	chr22:30283559-30283560	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150409022	chr22:30283617-30283618	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs16988084	chr22:30283750-30283751	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs144033752	chr22:30283753-30283754	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs546226456	chr22:30283793-30283794	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs560528620	chr22:30283811-30283812	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs60190767	chr22:30283876-30283877	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527822465	chr22:30283929-30283930	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533498928	chr22:30283930-30283931	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs61352751	chr22:30283999-30284000	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs531617292	chr22:30284006-30284007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs549636794	chr22:30284016-30284017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571212395	chr22:30284024-30284025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532135995	chr22:30284049-30284050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73161101	chr22:30284124-30284125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:358 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280000-30283400	Weak transcription	Esophagus	oesophagus
2	chr22:30280000-30283400	Weak transcription	Pancreas	Pancrea
3	chr22:30280000-30286200	Weak transcription	Gastric	stomach
4	chr22:30280200-30283800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30280200-30283800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr22:30280200-30283800	Enhancers	Fetal Heart	heart
7	chr22:30280200-30283800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr22:30280200-30284000	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr22:30280200-30293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
11	chr22:30280400-30282800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr22:30280400-30283200	Weak transcription	Brain Angular Gyrus	brain
13	chr22:30280400-30283400	Weak transcription	Fetal Kidney	kidney
14	chr22:30280400-30283800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr22:30280400-30283800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr22:30280400-30283800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr22:30280400-30283800	Enhancers	Fetal Lung	lung
18	chr22:30280400-30284000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr22:30280400-30297400	Weak transcription	K562	blood
20	chr22:30280600-30284000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr22:30280800-30282800	Enhancers	Rectal Smooth Muscle	rectum
22	chr22:30280800-30283200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:30280800-30283600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:30280800-30283800	Enhancers	Adipose Nuclei	Adipose
25	chr22:30280800-30283800	Enhancers	Brain Germinal Matrix	brain
26	chr22:30280800-30291600	Weak transcription	Lung	lung
27	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr22:30281000-30284000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr22:30281000-30287600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
32	chr22:30281200-30283200	Active TSS	Primary hematopoietic stem cells	blood
33	chr22:30281200-30283400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr22:30281200-30283400	Weak transcription	Left Ventricle	heart
35	chr22:30281200-30283800	Enhancers	Primary T cells from cord blood	blood
36	chr22:30281200-30283800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:30281200-30283800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr22:30281400-30283200	Weak transcription	Brain Substantia Nigra	brain
39	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
41	chr22:30281800-30282800	Enhancers	Dnd41	blood
42	chr22:30281800-30283000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:30281800-30283800	Enhancers	Brain Anterior Caudate	brain
44	chr22:30281800-30286200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr22:30281800-30299000	Weak transcription	Spleen	Spleen
46	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr22:30282000-30283000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr22:30282000-30283200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr22:30282000-30283200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr22:30282000-30283200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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