Variant report

Variant	esv10619
Chromosome Location	chr22:33780263-33783473
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	chr22:33782375-33782524	HepG2	liver:	n/a	n/a
2	CTCF	chr22:33782467-33782501	GM19240	blood:	n/a	n/a
3	CTCF	chr22:33782460-33782610	GM12878	blood:	n/a	n/a
4	CTCF	chr22:33782400-33782550	GM12872	blood:	n/a	n/a
5	CTCF	chr22:33782425-33782522	HepG2	liver:	n/a	n/a
6	CTCF	chr22:33782327-33782622	GM12878	blood:	n/a	n/a
7	CTCF	chr22:33782436-33782507	GM12878	blood:	n/a	n/a
8	CTCF	chr22:33782380-33782530	GM12865	blood:	n/a	n/a
9	CTCF	chr22:33782400-33782550	GM12875	blood:	n/a	n/a
10	CTCF	chr22:33782340-33782490	GM06990	blood:	n/a	n/a
11	CTCF	chr22:33782360-33782510	HepG2	liver:	n/a	n/a
12	CTCF	chr22:33782520-33782670	HFF-Myc	foreskin:	n/a	n/a
13	CTCF	chr22:33782380-33782530	GM12869	blood:	n/a	n/a
14	CTCF	chr22:33782382-33782521	HepG2	liver:	n/a	n/a
15	EBF1	chr22:33782199-33782659	GM12878	blood:	n/a	chr22:33782503-33782514
16	ELK1	chr22:33782336-33782522	GM12878	blood:	n/a	n/a
17	MAFF	chr22:33781674-33781931	K562	blood:	n/a	chr22:33781793-33781811
18	MAFF	chr22:33781640-33781957	HepG2	liver:	n/a	chr22:33781793-33781811
19	MAFK	chr22:33781738-33781839	K562	blood:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
20	MAFK	chr22:33781640-33781978	HepG2	liver:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
21	MAFK	chr22:33781636-33781966	IMR90	lung:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
22	MAFK	chr22:33781617-33781985	HepG2	liver:	n/a	chr22:33781790-33781807 chr22:33781794-33781809
23	RAD21	chr22:33782206-33782587	HepG2	liver:	n/a	n/a
24	SMC3	chr22:33782373-33782574	GM12878	blood:	n/a	n/a
25	SMC3	chr22:33782381-33782481	HepG2	liver:	n/a	n/a
26	WRNIP1	chr22:33781673-33781690	GM12878	blood:	n/a	n/a
27	ZNF143	chr22:33782345-33782600	GM12878	blood:	n/a	n/a
28	ZNF143	chr22:33782489-33782555	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:33780659..33782613-chr22:33787779..33790612,2	MCF-7	breast:
2	chr22:33754382..33757295-chr22:33782383..33785035,2	K562	blood:

Variant related genes	Relation type
LARGE	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199543802	chr22:33780264-33780265	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs563144239	chr22:33780274-33780275	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532067255	chr22:33780286-33780287	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs539632980	chr22:33780304-33780305	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs139572378	chr22:33780307-33780308	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs571904078	chr22:33780322-33780323	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs527774758	chr22:33780329-33780330	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs547823410	chr22:33780330-33780331	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs150907937	chr22:33780345-33780346	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181139950	chr22:33780346-33780347	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs369995040	chr22:33780348-33780349	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111383242	chr22:33780382-33780383	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs536612470	chr22:33780393-33780394	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568166308	chr22:33780410-33780411	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs374476446	chr22:33780451-33780452	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs185325728	chr22:33780470-33780471	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs558207059	chr22:33780498-33780499	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs568788289	chr22:33780518-33780519	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs76972817	chr22:33780525-33780526	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs557516997	chr22:33780527-33780528	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112177781	chr22:33780537-33780538	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs34389266	chr22:33780565-33780566	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs73166265	chr22:33780577-33780578	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs188129413	chr22:33780594-33780595	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs540060348	chr22:33780616-33780617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547371929	chr22:33780675-33780676	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570749859	chr22:33780676-33780677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145793389	chr22:33780695-33780696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114019105	chr22:33780703-33780704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182566734	chr22:33780770-33780771	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539424695	chr22:33780772-33780773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112761536	chr22:33780796-33780797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62225266	chr22:33780798-33780799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562497858	chr22:33780834-33780835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576794144	chr22:33780845-33780846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545758455	chr22:33780868-33780869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9607039	chr22:33780897-33780898	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs527844193	chr22:33780898-33780899	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187176304	chr22:33780907-33780908	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561405836	chr22:33780915-33780916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192000829	chr22:33780998-33780999	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs549746826	chr22:33781007-33781008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111276498	chr22:33781015-33781016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144628717	chr22:33781043-33781044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183373556	chr22:33781050-33781051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571462469	chr22:33781156-33781157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533957194	chr22:33781165-33781166	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576176832	chr22:33781169-33781170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553708057	chr22:33781171-33781172	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537020317	chr22:33781228-33781229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33766800-33786000	Weak transcription	Fetal Lung	lung
2	chr22:33773600-33781200	Weak transcription	Primary B cells from cord blood	blood
3	chr22:33774200-33786200	Weak transcription	Fetal Heart	heart
4	chr22:33775000-33781800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr22:33775000-33789200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:33775200-33781600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr22:33775200-33786200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:33775200-33789000	Weak transcription	Adipose Nuclei	Adipose
9	chr22:33775400-33785000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr22:33775600-33800400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr22:33776000-33780800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:33776000-33781200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:33776000-33781600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr22:33776000-33784800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:33776200-33781000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr22:33776200-33782200	Weak transcription	HepG2	liver
17	chr22:33776200-33789200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr22:33776800-33780400	Strong transcription	Right Ventricle	heart
19	chr22:33776800-33780600	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr22:33776800-33780600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr22:33776800-33780600	Strong transcription	Ovary	ovary
22	chr22:33776800-33781200	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr22:33776800-33781200	Strong transcription	Stomach Smooth Muscle	stomach
24	chr22:33777000-33780600	Strong transcription	Aorta	Aorta
25	chr22:33777000-33780800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr22:33777000-33781000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr22:33777000-33781000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:33777000-33781200	Strong transcription	Fetal Stomach	stomach
29	chr22:33777200-33780600	Strong transcription	Left Ventricle	heart
30	chr22:33777200-33780800	Strong transcription	Fetal Intestine Large	intestine
31	chr22:33777200-33786000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr22:33777400-33781000	Weak transcription	Brain Anterior Caudate	brain
33	chr22:33778000-33780800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:33778000-33790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr22:33778000-33797200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:33778200-33781400	Weak transcription	Brain Angular Gyrus	brain
37	chr22:33778200-33800800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr22:33778400-33781000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:33778600-33780600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:33778600-33798000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:33778600-33801000	Weak transcription	GM12878-XiMat	blood
42	chr22:33778600-33852000	Weak transcription	Pancreas	Pancrea
43	chr22:33778800-33784200	Weak transcription	Fetal Muscle Leg	muscle
44	chr22:33778800-33786400	Weak transcription	Lung	lung
45	chr22:33778800-33789600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr22:33778800-33796400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr22:33778800-33796800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr22:33778800-33800400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr22:33779000-33800000	Weak transcription	Fetal Intestine Small	intestine
50	chr22:33779200-33786400	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links