Variant report

Variant	esv1833074
Chromosome Location	chr22:30294744-30300521
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	CEBPB	chr22:30299489-30299682	IMR90	lung:	n/a	n/a
2	CEBPB	chr22:30299526-30299687	HepG2	liver:	n/a	n/a
3	CEBPB	chr22:30297362-30297676	K562	blood:	n/a	n/a
4	CEBPB	chr22:30297405-30297626	K562	blood:	n/a	n/a
5	CEBPB	chr22:30299452-30299719	MCF-7	breast:	n/a	n/a
6	CEBPB	chr22:30299474-30299639	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr22:30297366-30297631	K562	blood:	n/a	n/a
8	CUX1	chr22:30295405-30295569	K562	blood:	n/a	chr22:30295529-30295543 chr22:30295502-30295511
9	CUX1	chr22:30296240-30296363	GM12878	blood:	n/a	n/a
10	JUND	chr22:30297520-30297671	K562	blood:	n/a	n/a
11	MAFK	chr22:30295919-30295995	IMR90	lung:	n/a	chr22:30295942-30295953 chr22:30295941-30295952
12	MAFK	chr22:30295778-30296107	HepG2	liver:	n/a	chr22:30295942-30295953 chr22:30295941-30295952
13	MAX	chr22:30297426-30297673	NB4	blood:	n/a	chr22:30297502-30297512
14	MYC	chr22:30297281-30297416	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr22:30297476-30297654	K562	blood:	n/a	chr22:30297502-30297512
16	SPI1	chr22:30297307-30297806	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30294545..30297116-chr22:30298361..30301240,2	K562	blood:
2	chr22:30298495..30301081-chr22:30311578..30313421,2	MCF-7	breast:
3	chr22:30298737..30301803-chr22:30302494..30306350,3	K562	blood:
4	chr22:30298737..30301199-chr22:30301217..30303994,2	K562	blood:

Variant related genes	Relation type
RNU6-331P	TF binding region
ENSG00000207455	chromatin interactions

Extended variants
information (count: 209 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:209 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8138677	chr22:30294744-30294745	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568429852	chr22:30294779-30294780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13058248	chr22:30294783-30294784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535873743	chr22:30294787-30294788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550853623	chr22:30294848-30294849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569214601	chr22:30294850-30294851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368928896	chr22:30294876-30294877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539615173	chr22:30294887-30294888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371928547	chr22:30294901-30294902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199656050	chr22:30294902-30294903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71198514	chr22:30294916-30294917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557694758	chr22:30294967-30294968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556995609	chr22:30294992-30294993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs575342081	chr22:30295002-30295003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572877751	chr22:30295116-30295117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372423813	chr22:30295130-30295131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs35361418	chr22:30295131-30295132	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs555061631	chr22:30295157-30295158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs111233000	chr22:30295177-30295178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146799101	chr22:30295238-30295239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566984164	chr22:30295242-30295243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557224099	chr22:30295268-30295269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537561590	chr22:30295321-30295322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575897337	chr22:30295335-30295336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184274310	chr22:30295436-30295437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs114273885	chr22:30295441-30295442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187546469	chr22:30295458-30295459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540341449	chr22:30295503-30295504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569940211	chr22:30295537-30295538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs202011420	chr22:30295540-30295541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562172887	chr22:30295541-30295542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185555721	chr22:30295552-30295553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs57631440	chr22:30295555-30295556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs5763589	chr22:30295561-30295562	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs569149897	chr22:30295628-30295629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148893427	chr22:30295676-30295677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143563569	chr22:30295784-30295785	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs573657263	chr22:30295792-30295793	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs112938060	chr22:30295806-30295807	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs542752026	chr22:30295854-30295855	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs56836109	chr22:30295890-30295891	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192795992	chr22:30295900-30295901	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs370608391	chr22:30295922-30295923	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs147842231	chr22:30295961-30295962	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs370283630	chr22:30296015-30296016	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs115571386	chr22:30296022-30296023	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs567065966	chr22:30296033-30296034	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs147609607	chr22:30296056-30296057	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs368332596	chr22:30296059-30296060	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs552346326	chr22:30296120-30296121	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:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
2	chr22:30280400-30297400	Weak transcription	K562	blood
3	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
6	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
8	chr22:30281800-30299000	Weak transcription	Spleen	Spleen
9	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr22:30282000-30297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr22:30282600-30300000	Weak transcription	Small Intestine	intestine
15	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:30283800-30295600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:30283800-30297400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr22:30283800-30299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:30283800-30300000	Weak transcription	Stomach Mucosa	stomach
20	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
21	chr22:30284000-30297200	Weak transcription	Primary B cells from cord blood	blood
22	chr22:30284000-30299800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
24	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
25	chr22:30287000-30301000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr22:30287800-30297400	Weak transcription	Adipose Nuclei	Adipose
28	chr22:30289200-30295800	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr22:30290400-30299000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:30290800-30300000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr22:30291000-30299800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr22:30291000-30303600	Weak transcription	Colon Smooth Muscle	Colon
34	chr22:30291800-30296600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr22:30293200-30294800	Enhancers	Ovary	ovary
36	chr22:30293400-30294800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr22:30293400-30296200	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr22:30293800-30299000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr22:30294000-30294800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr22:30294000-30294800	Enhancers	Right Atrium	heart
41	chr22:30294000-30294800	Enhancers	Right Ventricle	heart
42	chr22:30294000-30297600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr22:30294400-30294800	Enhancers	Primary T cells fromperipheralblood	blood
44	chr22:30294400-30294800	Enhancers	Lung	lung
45	chr22:30294400-30294800	Enhancers	Rectal Smooth Muscle	rectum
46	chr22:30294400-30294800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:30294400-30295400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:30294400-30295400	Enhancers	Left Ventricle	heart
49	chr22:30294600-30294800	Enhancers	Fetal Stomach	stomach
50	chr22:30294600-30295200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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