Variant report

Variant	nsv588879
Chromosome Location	chr22:28540492-28753833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:831)
CpG islands
(count:0)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:831 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:28547279-28547471	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:28746086-28746150	K562	blood:	n/a	n/a
3	ARID3A	chr22:28649216-28649527	K562	blood:	n/a	n/a
4	ARID3A	chr22:28640489-28640504	K562	blood:	n/a	n/a
5	ARID3A	chr22:28573902-28574087	HepG2	liver:	n/a	n/a
6	ATF1	chr22:28543282-28543402	K562	blood:	n/a	n/a
7	ATF1	chr22:28712088-28712376	K562	blood:	n/a	n/a
8	ATF1	chr22:28643687-28643983	K562	blood:	n/a	n/a
9	BACH1	chr22:28542916-28543278	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr22:28724863-28725070	GM12878	blood:	n/a	chr22:28724944-28724955
11	BHLHE40	chr22:28693575-28693922	GM12878	blood:	n/a	n/a
12	BHLHE40	chr22:28643588-28643942	K562	blood:	n/a	n/a
13	CBX3	chr22:28633792-28634111	K562	blood:	n/a	n/a
14	CBX3	chr22:28711950-28712462	K562	blood:	n/a	n/a
15	CBX3	chr22:28712048-28712347	K562	blood:	n/a	n/a
16	CCNT2	chr22:28747679-28747879	K562	blood:	n/a	n/a
17	CCNT2	chr22:28643169-28643348	K562	blood:	n/a	n/a
18	CCNT2	chr22:28712032-28712283	K562	blood:	n/a	n/a
19	CEBPB	chr22:28722897-28723098	HepG2	liver:	n/a	chr22:28723013-28723024
20	CEBPB	chr22:28551853-28552041	A549	lung:	n/a	chr22:28552001-28552012 chr22:28551962-28551973
21	CEBPB	chr22:28722900-28723094	IMR90	lung:	n/a	chr22:28723013-28723024
22	CEBPB	chr22:28547221-28547583	HepG2	liver:	n/a	n/a
23	CEBPB	chr22:28547315-28547478	HepG2	liver:	n/a	n/a
24	CEBPB	chr22:28641653-28642007	HepG2	liver:	n/a	chr22:28641810-28641823
25	CEBPB	chr22:28643362-28643685	K562	blood:	n/a	n/a
26	CEBPB	chr22:28627527-28627700	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr22:28725669-28726000	IMR90	lung:	n/a	n/a
28	CEBPB	chr22:28544872-28545212	IMR90	lung:	n/a	n/a
29	CEBPB	chr22:28547253-28547583	HepG2	liver:	n/a	n/a
30	CEBPB	chr22:28550887-28551128	IMR90	lung:	n/a	n/a
31	CEBPB	chr22:28544453-28544643	A549	lung:	n/a	n/a
32	CEBPB	chr22:28541723-28541899	A549	lung:	n/a	n/a
33	CEBPB	chr22:28551778-28552134	IMR90	lung:	n/a	chr22:28552001-28552012 chr22:28551962-28551973
34	CEBPB	chr22:28722953-28723071	A549	lung:	n/a	chr22:28723013-28723024
35	CEBPB	chr22:28576792-28577124	ECC-1	luminal epithelium:	n/a	chr22:28576941-28576952 chr22:28576941-28576952 chr22:28576941-28576954
36	CEBPB	chr22:28689240-28689354	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr22:28568917-28569296	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr22:28551817-28552246	Hela-S3	cervix:	n/a	chr22:28552001-28552012 chr22:28551962-28551973
39	CEBPB	chr22:28551829-28552133	HepG2	liver:	n/a	chr22:28552001-28552012 chr22:28551962-28551973
40	CEBPB	chr22:28678306-28678756	IMR90	lung:	n/a	n/a
41	CEBPB	chr22:28544528-28544660	HepG2	liver:	n/a	n/a
42	CEBPB	chr22:28703434-28703553	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr22:28544530-28544651	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr22:28712015-28712384	K562	blood:	n/a	n/a
45	CEBPB	chr22:28604059-28604312	HepG2	liver:	n/a	chr22:28604200-28604209 chr22:28604200-28604209
46	CEBPB	chr22:28568942-28569123	A549	lung:	n/a	n/a
47	CEBPB	chr22:28627465-28627782	HepG2	liver:	n/a	n/a
48	CEBPB	chr22:28671779-28671802	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr22:28577221-28577778	ECC-1	luminal epithelium:	n/a	chr22:28577601-28577609
50	CEBPB	chr22:28712036-28712370	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:28649021..28649823-chr22:28990464..28991307,3	MCF-7	breast:
2	chr22:28655568..28657867-chr22:28658148..28660781,2	K562	blood:
3	chr22:28745543..28747734-chr22:28752651..28754673,2	MCF-7	breast:
4	chr22:28539281..28541367-chr22:28542040..28544765,2	MCF-7	breast:
5	chr22:28649522..28652291-chr22:28652428..28654001,2	K562	blood:
6	chr22:28737276..28738868-chr22:28739288..28741604,2	K562	blood:
7	chr22:28648825..28649894-chr22:28838031..28838826,8	MCF-7	breast:
8	chr22:28737276..28738868-chr22:28739288..28741604,2	K562	blood:
9	chr22:28630686..28633684-chr22:28635655..28637319,2	K562	blood:
10	chr22:28745543..28747734-chr22:28752651..28754673,2	MCF-7	breast:
11	chr14:96564774..96565726-chr22:28556370..28557370,2	MCF-7	breast:
12	chr22:28746054..28748860-chr22:28753895..28756337,2	K562	blood:
13	chr22:28630686..28633684-chr22:28635655..28637319,2	K562	blood:
14	chr22:28682367..28685741-chr22:28686329..28689792,3	K562	blood:
15	chr22:28743920..28746526-chr22:28747537..28749124,2	K562	blood:
16	chr17:56707487..56710036-chr22:28743789..28746572,2	MCF-7	breast:
17	chr22:28643886..28646105-chr22:28647458..28649434,2	K562	blood:
18	chr22:28649522..28652291-chr22:28652428..28654001,2	K562	blood:
19	chr22:28550689..28552785-chr22:28558591..28560583,2	K562	blood:
20	chr22:28550689..28552785-chr22:28558591..28560583,2	K562	blood:
21	chr22:28655568..28657867-chr22:28658148..28660781,2	K562	blood:
22	chr22:28682367..28685741-chr22:28686329..28689792,3	K562	blood:
23	chr22:28643886..28646105-chr22:28647458..28649434,2	K562	blood:
24	chr22:28716762..28719627-chr22:28834763..28836583,2	K562	blood:
25	chr22:28539281..28541367-chr22:28542040..28544765,2	MCF-7	breast:
26	chr22:28743920..28746526-chr22:28747537..28749124,2	K562	blood:
27	chr22:28667734..28669961-chr22:28670189..28672569,2	K562	blood:
28	chr22:28658386..28659945-chr22:28672618..28674678,2	MCF-7	breast:
29	chr22:28667734..28669961-chr22:28670189..28672569,2	K562	blood:
30	chr1:210546862..210547810-chr22:28649282..28649782,2	Hela-S3	cervix:
31	chr22:28698934..28701559-chr22:28705463..28708229,2	K562	blood:
32	chr22:28658386..28659945-chr22:28672618..28674678,2	MCF-7	breast:
33	chr22:28536612..28538610-chr22:28539278..28541623,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199797	TF binding region
ENSG00000201209	TF binding region
ENSG00000212195	chromatin interactions
ENSG00000200972	chromatin interactions
ENSG00000199797	chromatin interactions

Extended variants
information (count: 6977 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:6977 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9608667	chr22:28540492-28540493	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113942857	chr22:28540622-28540623	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs531901796	chr22:28540673-28540674	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs135645	chr22:28540809-28540810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564954465	chr22:28540872-28540873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532294094	chr22:28540891-28540892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs12157776	chr22:28540895-28540896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565640678	chr22:28540940-28540941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141671377	chr22:28540984-28540985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548428812	chr22:28541000-28541001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569886343	chr22:28541006-28541007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9613569	chr22:28541025-28541026	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs573883730	chr22:28541036-28541037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577703009	chr22:28541047-28541048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538704803	chr22:28541071-28541072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs135646	chr22:28541075-28541076	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs572379564	chr22:28541128-28541129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542673272	chr22:28541129-28541130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs5752701	chr22:28541140-28541141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561613167	chr22:28541169-28541170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150522468	chr22:28541179-28541180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544027917	chr22:28541183-28541184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565520004	chr22:28541187-28541188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114248587	chr22:28541218-28541219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543751527	chr22:28541310-28541311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369851571	chr22:28541314-28541315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547469592	chr22:28541317-28541318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs373051756	chr22:28541340-28541341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2064360	chr22:28541350-28541351	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529675924	chr22:28541370-28541371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547904466	chr22:28541374-28541375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569929931	chr22:28541404-28541405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs58174266	chr22:28541489-28541490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190899669	chr22:28541508-28541509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571923333	chr22:28541600-28541601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570263552	chr22:28541608-28541609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs183148586	chr22:28541737-28541738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146869566	chr22:28541772-28541773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139713514	chr22:28541791-28541792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536629879	chr22:28541808-28541809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34364992	chr22:28541884-28541885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs13057007	chr22:28541980-28541981	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs573644683	chr22:28542105-28542106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs139075232	chr22:28542124-28542125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs187653513	chr22:28542270-28542271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370447504	chr22:28542273-28542274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559297915	chr22:28542290-28542291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144436231	chr22:28542291-28542292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541678381	chr22:28542297-28542298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs559377247	chr22:28542301-28542302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	21509527	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
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Cat eye syndrome	16708226	CNVD
Olfactory neuroblastoma	18408657	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	21720365	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2083 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28533600-28542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr22:28533800-28559000	Weak transcription	Aorta	Aorta
3	chr22:28534200-28545200	Enhancers	Fetal Lung	lung
4	chr22:28534400-28544000	Enhancers	Fetal Brain Male	brain
5	chr22:28534600-28541000	Enhancers	Fetal Stomach	stomach
6	chr22:28535400-28541200	Enhancers	Colon Smooth Muscle	Colon
7	chr22:28535800-28540800	Enhancers	Rectal Smooth Muscle	rectum
8	chr22:28536000-28542200	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr22:28536000-28544400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:28536200-28542400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:28536200-28546600	Weak transcription	Left Ventricle	heart
12	chr22:28536200-28549600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr22:28536400-28542200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr22:28536800-28543800	Enhancers	Fetal Brain Female	brain
15	chr22:28537200-28541000	Enhancers	Fetal Kidney	kidney
16	chr22:28537200-28558800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:28537400-28542400	Weak transcription	Right Ventricle	heart
18	chr22:28538000-28542200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr22:28538400-28540600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr22:28538400-28540800	Weak transcription	Lung	lung
21	chr22:28538400-28540800	Enhancers	NHLF	lung
22	chr22:28538400-28543600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:28538400-28544800	Weak transcription	Dnd41	blood
24	chr22:28538600-28540600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:28538600-28540800	Enhancers	Adipose Nuclei	Adipose
26	chr22:28538800-28541000	Enhancers	Fetal Muscle Leg	muscle
27	chr22:28538800-28549800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr22:28539000-28540800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr22:28539000-28541800	Weak transcription	Brain Substantia Nigra	brain
30	chr22:28539200-28540800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:28539200-28540800	Enhancers	HSMMtube	muscle
32	chr22:28539200-28541000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:28539200-28541800	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr22:28539200-28542400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:28539200-28547000	Weak transcription	Fetal Intestine Small	intestine
36	chr22:28539200-28558400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:28539400-28542000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr22:28539600-28549800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr22:28539800-28540600	Weak transcription	Small Intestine	intestine
40	chr22:28539800-28541000	Enhancers	Ovary	ovary
41	chr22:28539800-28542000	Weak transcription	Brain Hippocampus Middle	brain
42	chr22:28539800-28542200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:28540000-28541000	Enhancers	Right Atrium	heart
44	chr22:28540000-28542000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr22:28540000-28542800	Weak transcription	Osteobl	bone
46	chr22:28540200-28540800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:28540200-28540800	Enhancers	Psoas Muscle	Psoas
48	chr22:28540200-28542200	Weak transcription	Brain Angular Gyrus	brain
49	chr22:28540200-28542200	Weak transcription	Brain Anterior Caudate	brain
50	chr22:28540200-28542400	Weak transcription	HSMM	muscle

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