Variant report

Variant	esv1830801
Chromosome Location	chr22:30292682-30299797
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	chr22:30297366-30297631	K562	blood:	n/a	n/a
2	CEBPB	chr22:30299526-30299687	HepG2	liver:	n/a	n/a
3	CEBPB	chr22:30299489-30299682	IMR90	lung:	n/a	n/a
4	CEBPB	chr22:30299474-30299639	H1-hESC	embryonic stem cell:	n/a	n/a
5	CEBPB	chr22:30299452-30299719	MCF-7	breast:	n/a	n/a
6	CEBPB	chr22:30297362-30297676	K562	blood:	n/a	n/a
7	CEBPB	chr22:30297405-30297626	K562	blood:	n/a	n/a
8	CUX1	chr22:30296240-30296363	GM12878	blood:	n/a	n/a
9	CUX1	chr22:30295405-30295569	K562	blood:	n/a	chr22:30295529-30295543 chr22:30295502-30295511
10	FOXA2	chr22:30293592-30293826	A549	lung:	n/a	n/a
11	JUND	chr22:30297520-30297671	K562	blood:	n/a	n/a
12	MAFK	chr22:30295919-30295995	IMR90	lung:	n/a	chr22:30295942-30295953 chr22:30295941-30295952
13	MAFK	chr22:30295778-30296107	HepG2	liver:	n/a	chr22:30295942-30295953 chr22:30295941-30295952
14	MAX	chr22:30297426-30297673	NB4	blood:	n/a	chr22:30297502-30297512
15	MYC	chr22:30297476-30297654	K562	blood:	n/a	chr22:30297502-30297512
16	MYC	chr22:30297281-30297416	MCF10A-Er-Src	breast:	n/a	n/a
17	MYC	chr22:30294696-30294733	GM12878	blood:	n/a	n/a
18	SPI1	chr22:30297307-30297806	HL-60	blood:	n/a	n/a

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

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

Extended variants
information (count: 257 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28813381	chr22:30292682-30292683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577043833	chr22:30292722-30292723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12710565	chr22:30292724-30292725	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs140357883	chr22:30292811-30292812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs200250049	chr22:30292855-30292856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145703649	chr22:30292858-30292859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113733036	chr22:30292859-30292860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78176430	chr22:30292860-30292861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187614123	chr22:30292891-30292892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549577178	chr22:30292892-30292893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77164436	chr22:30292893-30292894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553017241	chr22:30292910-30292911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370610892	chr22:30292931-30292932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574530494	chr22:30292990-30292991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs189946681	chr22:30293011-30293012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150338758	chr22:30293050-30293051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530670574	chr22:30293109-30293110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181687838	chr22:30293142-30293143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185269752	chr22:30293214-30293215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528096760	chr22:30293303-30293304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369834768	chr22:30293309-30293310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190134651	chr22:30293322-30293323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373352394	chr22:30293334-30293335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566252607	chr22:30293341-30293342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs530221210	chr22:30293343-30293344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146436672	chr22:30293430-30293431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377609289	chr22:30293431-30293432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs182085755	chr22:30293433-30293434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552743775	chr22:30293446-30293447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544971180	chr22:30293465-30293466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373802877	chr22:30293476-30293477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs564873757	chr22:30293477-30293478	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558796677	chr22:30293502-30293503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9625878	chr22:30293503-30293504	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs534714051	chr22:30293541-30293542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574487394	chr22:30293546-30293547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138030951	chr22:30293556-30293557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs5763585	chr22:30293559-30293560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs571884765	chr22:30293591-30293592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557222455	chr22:30293592-30293593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9625879	chr22:30293602-30293603	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs564028182	chr22:30293620-30293621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs572757767	chr22:30293632-30293633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533961332	chr22:30293642-30293643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143495121	chr22:30293657-30293658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs530352900	chr22:30293668-30293669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186050390	chr22:30293684-30293685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563502679	chr22:30293693-30293694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553466860	chr22:30293704-30293705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191149830	chr22:30293742-30293743	Enhancers Weak transcription	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:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30280200-30293600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr22:30280200-30303800	Weak transcription	Aorta	Aorta
3	chr22:30280400-30297400	Weak transcription	K562	blood
4	chr22:30280800-30303600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr22:30281000-30303000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr22:30281000-30303200	Weak transcription	Fetal Muscle Leg	muscle
7	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr22:30281600-30303400	Weak transcription	Fetal Intestine Small	intestine
9	chr22:30281800-30299000	Weak transcription	Spleen	Spleen
10	chr22:30281800-30300200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:30282000-30297600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:30282200-30303000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:30282200-30303200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr22:30282600-30300000	Weak transcription	Small Intestine	intestine
16	chr22:30282600-30303400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:30283800-30294200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr22:30283800-30294400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:30283800-30295600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr22:30283800-30297400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr22:30283800-30299000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:30283800-30300000	Weak transcription	Stomach Mucosa	stomach
23	chr22:30283800-30307000	Weak transcription	Esophagus	oesophagus
24	chr22:30284000-30297200	Weak transcription	Primary B cells from cord blood	blood
25	chr22:30284000-30299800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr22:30284000-30303600	Weak transcription	Brain Angular Gyrus	brain
27	chr22:30284400-30303800	Weak transcription	Pancreas	Pancrea
28	chr22:30287000-30294600	Weak transcription	Gastric	stomach
29	chr22:30287000-30301000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr22:30287600-30293200	Weak transcription	Ovary	ovary
32	chr22:30287600-30294000	Weak transcription	Right Ventricle	heart
33	chr22:30287800-30297400	Weak transcription	Adipose Nuclei	Adipose
34	chr22:30288000-30294000	Weak transcription	Right Atrium	heart
35	chr22:30288000-30294400	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr22:30288600-30294000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr22:30289200-30294600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr22:30289200-30295800	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr22:30290400-30294400	Weak transcription	Left Ventricle	heart
40	chr22:30290400-30299000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr22:30290800-30293400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr22:30290800-30300000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr22:30291000-30294400	Weak transcription	Fetal Stomach	stomach
45	chr22:30291000-30294400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr22:30291000-30294400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr22:30291000-30299800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr22:30291000-30303600	Weak transcription	Colon Smooth Muscle	Colon
49	chr22:30291800-30294400	Weak transcription	Lung	lung
50	chr22:30291800-30296600	Weak transcription	Primary monocytes fromperipheralblood	blood

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