Variant report

Variant	esv1835065
Chromosome Location	chr22:33758698-33798116
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	BATF	chr22:33776753-33777201	GM12878	blood:	n/a	chr22:33777016-33777027 chr22:33776976-33776987
2	BATF	chr22:33776851-33777189	GM12878	blood:	n/a	chr22:33777016-33777027 chr22:33776976-33776987
3	BCL11A	chr22:33758779-33758975	GM12878	blood:	n/a	n/a
4	BCL3	chr22:33776771-33777229	GM12878	blood:	n/a	n/a
5	BCL3	chr22:33777653-33778122	A549	lung:	n/a	n/a
6	BHLHE40	chr22:33759386-33759578	GM12878	blood:	n/a	n/a
7	CEBPB	chr22:33776778-33777058	A549	lung:	n/a	n/a
8	CEBPB	chr22:33776704-33777058	A549	lung:	n/a	n/a
9	CEBPB	chr22:33776621-33777140	A549	lung:	n/a	n/a
10	CEBPB	chr22:33793377-33793448	HepG2	liver:	n/a	n/a
11	CEBPB	chr22:33782375-33782524	HepG2	liver:	n/a	n/a
12	CEBPB	chr22:33759485-33759514	HepG2	liver:	n/a	n/a
13	CEBPB	chr22:33793273-33793666	IMR90	lung:	n/a	n/a
14	CEBPB	chr22:33776660-33777360	IMR90	lung:	n/a	n/a
15	CREB1	chr22:33777778-33778090	A549	lung:	n/a	n/a
16	CTCF	chr22:33782425-33782522	HepG2	liver:	n/a	n/a
17	CTCF	chr22:33782400-33782550	GM12872	blood:	n/a	n/a
18	CTCF	chr22:33796800-33796950	AG04450	lung:	n/a	n/a
19	CTCF	chr22:33796900-33797050	HRE	kidney:	n/a	chr22:33796965-33796986 chr22:33796976-33796985
20	CTCF	chr22:33764905-33764928	Fibrobl	skin:	n/a	n/a
21	CTCF	chr22:33796580-33796730	RPTEC	kidney:	n/a	chr22:33796638-33796651 chr22:33796643-33796651
22	CTCF	chr22:33782520-33782670	HFF-Myc	foreskin:	n/a	n/a
23	CTCF	chr22:33761913-33761943	GM10248	blood:	n/a	n/a
24	CTCF	chr22:33782436-33782507	GM12878	blood:	n/a	n/a
25	CTCF	chr22:33782380-33782530	GM12865	blood:	n/a	n/a
26	CTCF	chr22:33789582-33789606	HepG2	liver:	n/a	n/a
27	CTCF	chr22:33782467-33782501	GM19240	blood:	n/a	n/a
28	CTCF	chr22:33796971-33797010	A549	lung:	n/a	chr22:33796976-33796985
29	CTCF	chr22:33782327-33782622	GM12878	blood:	n/a	n/a
30	CTCF	chr22:33782382-33782521	HepG2	liver:	n/a	n/a
31	CTCF	chr22:33782460-33782610	GM12878	blood:	n/a	n/a
32	CTCF	chr22:33796940-33797090	HRE	kidney:	n/a	chr22:33796965-33796986 chr22:33796976-33796985
33	CTCF	chr22:33782380-33782530	GM12869	blood:	n/a	n/a
34	CTCF	chr22:33796840-33796990	HepG2	liver:	n/a	chr22:33796965-33796986 chr22:33796976-33796985
35	CTCF	chr22:33796920-33797070	HBMEC	blood vessel:	n/a	chr22:33796965-33796986 chr22:33796976-33796985
36	CTCF	chr22:33782340-33782490	GM06990	blood:	n/a	n/a
37	CTCF	chr22:33796965-33796970	A549	lung:	n/a	n/a
38	CTCF	chr22:33796520-33796670	RPTEC	kidney:	n/a	chr22:33796638-33796651 chr22:33796643-33796651
39	CTCF	chr22:33782360-33782510	HepG2	liver:	n/a	n/a
40	CTCF	chr22:33782400-33782550	GM12875	blood:	n/a	n/a
41	CTCF	chr22:33796928-33797060	MCF-7	breast:	n/a	chr22:33796965-33796986 chr22:33796976-33796985
42	CTCF	chr22:33796638-33796658	Kidney_OC	kidney:	n/a	chr22:33796638-33796651 chr22:33796643-33796651
43	CTCF	chr22:33796580-33796730	HRE	kidney:	n/a	chr22:33796638-33796651 chr22:33796643-33796651
44	CTCF	chr22:33795492-33795558	LNCaP	prostate:	n/a	n/a
45	CUX1	chr22:33759352-33759660	GM12878	blood:	n/a	n/a
46	EBF1	chr22:33776909-33777235	GM12878	blood:	n/a	n/a
47	EBF1	chr22:33758691-33759690	GM12878	blood:	n/a	chr22:33759435-33759446
48	EBF1	chr22:33759276-33759611	GM12878	blood:	n/a	chr22:33759435-33759446
49	EBF1	chr22:33782199-33782659	GM12878	blood:	n/a	chr22:33782503-33782514
50	EBF1	chr22:33776904-33777159	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:33789978..33792098-chr22:33794804..33797687,2	MCF-7	breast:
2	chr22:33770626..33773440-chr22:33777171..33779247,2	K562	blood:
3	chr22:33789978..33792098-chr22:33794804..33797687,2	MCF-7	breast:
4	chr22:33754382..33757295-chr22:33782383..33785035,2	K562	blood:
5	chr22:33770626..33773440-chr22:33777171..33779247,2	K562	blood:
6	chr22:33791457..33793714-chr22:33799234..33801837,2	MCF-7	breast:
7	chr22:33780659..33782613-chr22:33787779..33790612,2	MCF-7	breast:
8	chr22:33780659..33782613-chr22:33787779..33790612,2	MCF-7	breast:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 1741 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1741 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5754537	chr22:33758698-33758699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9609768	chr22:33758736-33758737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs534731432	chr22:33758768-33758769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114583751	chr22:33758804-33758805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190044348	chr22:33758811-33758812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539586243	chr22:33758837-33758838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180775772	chr22:33758845-33758846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368551997	chr22:33758883-33758884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560866652	chr22:33758897-33758898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs529798618	chr22:33758932-33758933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149013607	chr22:33758968-33758969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569684661	chr22:33758999-33759000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532827066	chr22:33759008-33759009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552930046	chr22:33759116-33759117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566245698	chr22:33759134-33759135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115711752	chr22:33759202-33759203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546418367	chr22:33759209-33759210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142972018	chr22:33759225-33759226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568424433	chr22:33759258-33759259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537165782	chr22:33759260-33759261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186533662	chr22:33759271-33759272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576857472	chr22:33759339-33759340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538530527	chr22:33759366-33759367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558619559	chr22:33759370-33759371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs150941442	chr22:33759487-33759488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191089902	chr22:33759500-33759501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35558538	chr22:33759532-33759533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563036821	chr22:33759599-33759600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576362126	chr22:33759640-33759641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113670192	chr22:33759701-33759702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs141918361	chr22:33759713-33759714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116788361	chr22:33759751-33759752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62225261	chr22:33759753-33759754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs563251415	chr22:33759770-33759771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145875542	chr22:33759786-33759787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552891458	chr22:33759789-33759790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559840716	chr22:33759796-33759797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138708464	chr22:33759810-33759811	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs116642190	chr22:33759827-33759828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183933993	chr22:33759846-33759847	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs373458401	chr22:33759904-33759905	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs531889817	chr22:33759908-33759909	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs537128984	chr22:33759921-33759922	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs114148830	chr22:33759950-33759951	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs34911899	chr22:33759959-33759960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570503015	chr22:33759983-33759984	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs552829470	chr22:33759984-33759985	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539496103	chr22:33759985-33759986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs377426348	chr22:33759989-33759990	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs188385912	chr22:33760007-33760008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	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
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:339 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33731400-33773400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr22:33731400-33779800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr22:33732600-33760600	Weak transcription	Right Ventricle	heart
4	chr22:33734000-33777800	Weak transcription	Pancreas	Pancrea
5	chr22:33734600-33760600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:33738000-33776800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr22:33746400-33759000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:33746800-33761400	Weak transcription	Fetal Intestine Small	intestine
9	chr22:33747400-33762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:33747400-33768600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:33747400-33775600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr22:33748200-33766800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr22:33751400-33763800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:33751400-33765000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr22:33751600-33758800	Weak transcription	Aorta	Aorta
16	chr22:33755400-33768400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr22:33755600-33773600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:33757600-33761000	Weak transcription	Gastric	stomach
19	chr22:33757800-33777000	Weak transcription	Fetal Stomach	stomach
20	chr22:33757800-33777200	Weak transcription	Left Ventricle	heart
21	chr22:33758000-33760200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr22:33758200-33759000	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr22:33758200-33760400	Weak transcription	HSMMtube	muscle
24	chr22:33758400-33768400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:33758600-33765000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr22:33758600-33773200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:33759000-33759200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr22:33759400-33759600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr22:33759800-33760000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
30	chr22:33760000-33768400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr22:33762600-33762800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:33762800-33763400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:33763400-33763600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:33763400-33763800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:33765800-33777800	Weak transcription	Gastric	stomach
36	chr22:33766000-33766600	Enhancers	HepG2	liver
37	chr22:33766200-33766600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
39	chr22:33768200-33768800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:33768400-33768800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr22:33768400-33770200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr22:33768400-33770200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr22:33768600-33769200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:33768800-33774000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr22:33769200-33769800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:33769200-33777800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr22:33769600-33770000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr22:33769800-33776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:33770200-33774800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr22:33771400-33774200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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