Variant report

Variant	esv2608125
Chromosome Location	chr2:133011655-133011655
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:61)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr2:133011420-133013340	HepG2	liver:	n/a	n/a
2	BRCA1	chr2:133011422-133013353	Hela-S3	cervix:	n/a	n/a
3	CCNT2	chr2:133011242-133013338	K562	blood:	n/a	chr2:133011602-133011611
4	CHD1	chr2:133011417-133013353	GM12878	blood:	n/a	n/a
5	CHD2	chr2:133011247-133013353	K562	blood:	n/a	n/a
6	CHD2	chr2:133011385-133013351	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr2:133011384-133013354	IMR90	lung:	n/a	n/a
8	CTCF	chr2:133011248-133013351	GM12878	blood:	n/a	n/a
9	CTCF	chr2:133011247-133013355	K562	blood:	n/a	n/a
10	ELK1	chr2:133011420-133013355	K562	blood:	n/a	n/a
11	ELK4	chr2:133011384-133013356	HEK293	kidney:	n/a	n/a
12	EP300	chr2:133011287-133013340	HepG2	liver:	n/a	n/a
13	GTF2F1	chr2:133011249-133013356	K562	blood:	n/a	n/a
14	GTF2F1	chr2:133011246-133013342	H1-hESC	embryonic stem cell:	n/a	n/a
15	HCFC1	chr2:133011613-133013846	Hela-S3	cervix:	n/a	n/a
16	HMGN3	chr2:133011211-133013280	K562	blood:	n/a	n/a
17	JUN	chr2:133011417-133013354	K562	blood:	n/a	n/a
18	MAFK	chr2:133011247-133013339	HepG2	liver:	n/a	n/a
19	MAZ	chr2:133011245-133013354	Hela-S3	cervix:	n/a	n/a
20	MAZ	chr2:133011244-133013355	K562	blood:	n/a	n/a
21	MAZ	chr2:133011384-133013354	GM12878	blood:	n/a	n/a
22	MEF2A	chr2:133011629-133013182	SK-N-SH	brain:	n/a	n/a
23	MYC	chr2:133011248-133013342	H1-hESC	embryonic stem cell:	n/a	n/a
24	MYC	chr2:133011249-133013353	K562	blood:	n/a	n/a
25	POU5F1	chr2:133011610-133013440	H1-hESC	embryonic stem cell:	n/a	n/a
26	RCOR1	chr2:133011417-133013354	K562	blood:	n/a	n/a
27	RCOR1	chr2:133011246-133013356	Hela-S3	cervix:	n/a	n/a
28	RCOR1	chr2:133011247-133013341	HepG2	liver:	n/a	n/a
29	REST	chr2:133011610-133013321	H1-neurons	neurons:	n/a	chr2:133011685-133011698
30	RFX5	chr2:133011248-133013341	HepG2	liver:	n/a	n/a
31	RFX5	chr2:133011400-133013352	K562	blood:	n/a	n/a
32	SPI1	chr2:133011576-133013537	GM12878	blood:	n/a	n/a
33	STAT1	chr2:133011248-133013354	GM12878	blood:	n/a	n/a
34	TBL1XR1	chr2:133011385-133013353	K562	blood:	n/a	n/a
35	TBP	chr2:133011246-133013357	K562	blood:	n/a	n/a
36	TBP	chr2:133011246-133013344	HepG2	liver:	n/a	n/a
37	TCF12	chr2:133011630-133013476	A549	lung:	n/a	chr2:133011797-133011807
38	TCF12	chr2:133011644-133013352	MCF-7	breast:	n/a	chr2:133011797-133011807
39	YY1	chr2:133011635-133013269	H1-hESC	embryonic stem cell:	n/a	n/a
40	ZMIZ1	chr2:133011420-133013351	K562	blood:	n/a	n/a
41	ZNF143	chr2:133011356-133013353	Hela-S3	cervix:	n/a	n/a
42	ZNF143	chr2:133011249-133013354	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:133011643-133011693	NT2-D1	testis:	n/a
2	chr2:133011643-133011693	AG04450	lung:	fetal
3	chr2:133011643-133011693	AG09309	skin:	n/a
4	chr2:133011643-133011693	Caco-2	colon:	n/a
5	chr2:133011643-133011693	HRE	kidney:	n/a
6	chr2:133011643-133011693	HIPEpiC	eye:	n/a
7	chr2:133011643-133011693	HCPEpiC	choroid plexus:	n/a
8	chr2:133011643-133011693	NHBE	bronchial:	n/a
9	chr2:133011643-133011693	PFSK-1	brain:	n/a
10	chr2:133011643-133011693	LNCaP	prostate:	n/a
11	chr2:133011643-133011693	HMEC	breast:	n/a
12	chr2:133011643-133011693	ProgFib	skin:	n/a
13	chr2:133011643-133011693	NH-A	brain:	n/a
14	chr2:133011643-133011693	SK-N-SH	brain:	n/a
15	chr2:133011643-133011693	IMR90	lung:	fetal
16	chr2:133011643-133011693	AG09319	gingival:	n/a
17	chr2:133011643-133011693	HUVEC	blood vessel:	n/a
18	chr2:133011643-133011693	GM19239	blood:	n/a
19	chr2:133011643-133011693	ovcar-3	ovarian:	n/a
20	chr2:133011643-133011693	Hepatocyte	liver:	n/a
21	chr2:133011643-133011693	Hela-S3	cervix:	n/a
22	chr2:133011643-133011693	SK-N-MC	brain:	n/a
23	chr2:133011643-133011693	HAEpiC	amniotic membrane:	n/a
24	chr2:133011643-133011693	HepG2	liver:	n/a
25	chr2:133011643-133011693	SK-N-SH_RA	brain:	n/a
26	chr2:133011643-133011693	HRPEpiC	eye:	n/a
27	chr2:133011643-133011693	HRCEpiC	kidney:	n/a
28	chr2:133011643-133011693	PANC-1	pancreas:	n/a
29	chr2:133011643-133011693	T-47D	breast:	n/a
30	chr2:133011643-133011693	U87	brain:	n/a
31	chr2:133011643-133011693	BJ	skin:	n/a
32	chr2:133011643-133011693	A549	lung:	n/a
33	chr2:133011643-133011693	GM12878	blood:	n/a
34	chr2:133011643-133011693	PrEC	prostate:	n/a
35	chr2:133011643-133011693	GM12892	blood:	n/a
36	chr2:133011643-133011693	HEEpiC	esophagus:	n/a
37	chr2:133011643-133011693	MCF10A-Er-Src	breast:	n/a
38	chr2:133011643-133011693	HCM	heart:	n/a
39	chr2:133011643-133011693	NHDF-neo	bronchial:	n/a
40	chr2:133011643-133011693	AG10803	skin:	n/a
41	chr2:133011643-133011693	RPTEC	kidney:	n/a
42	chr2:133011643-133011693	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:133011643-133011693	HCT-116	colon:	n/a
44	chr2:133011643-133011693	Jurkat	blood:	n/a
45	chr2:133011643-133011693	BE2_C	brain:	n/a
46	chr2:133011643-133011693	HEK293	kidney:	embryo
47	chr2:133011643-133011693	K562	blood:	n/a
48	chr2:133011643-133011693	MCF-7	breast:	n/a
49	chr2:133011643-133011693	NB4	blood:	n/a
50	chr2:133011643-133011693	CMK	blood:	n/a

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:20702911..20705964-chr2:133010767..133014432,7	K562	blood:
2	chr1:91851357..91852890-chr2:133010879..133013835,2	K562	blood:
3	chr17:803107..806087-chr2:133011166..133013833,2	K562	blood:
4	chr12:20702909..20705960-chr2:133011295..133014432,7	K562	blood:
5	chr2:133010455..133013497-chrX:108295941..108299311,5	K562	blood:
6	chr2:133011277..133016757-chr20:26187363..26191986,20	K562	blood:
7	chr2:133010417..133015279-chr21:9824040..9829010,45	K562	blood:
8	chr1:91852916..91854571-chr2:133011071..133013655,2	K562	blood:
9	chr16:33959973..33964975-chr2:133010437..133015799,15	MCF-7	breast:
10	chr2:133010317..133016704-chr21:9824094..9829011,32	MCF-7	breast:
11	chr2:133011384..133014243-chr4:70295163..70298145,2	K562	blood:
12	chr16:33962831..33965453-chr2:133011419..133013464,21	MCF-7	breast:
13	chr16:33961661..33967162-chr2:133010338..133015206,18	K562	blood:
14	chr16:33958834..33966480-chr2:133009904..133018933,30	MCF-7	breast:
15	chr2:133010417..133016800-chr21:9824146..9829019,50	K562	blood:
16	chr16:33962970..33965065-chr2:133011472..133013456,38	MCF-7	breast:
17	chr2:133011277..133017359-chr20:26187383..26191986,21	K562	blood:
18	chr16:33961611..33967347-chr2:133008818..133014443,19	K562	blood:
19	chr12:20702922..20705906-chr2:133011248..133013650,3	MCF-7	breast:
20	chr2:133009402..133016367-chr21:9824030..9829043,35	MCF-7	breast:

No data

Variant related genes	Relation type
RNA5-8SP5	TF binding region
RNA5-8SP5	CpG island
ENSG00000226958	chromatin interactions
ENSG00000264462	chromatin interactions
ENSG00000256642	chromatin interactions
ENSG00000227195	chromatin interactions
ENSG00000256663	chromatin interactions
ENSG00000200434	chromatin interactions
ENSG00000264063	chromatin interactions
ENSG00000207986	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 61 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565459834	chr2:133011655-133011656	ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133004400-133012000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:133008400-133013200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
3	chr2:133008400-133017400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
4	chr2:133009600-133012000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:133009600-133012000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:133009800-133011800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:133009800-133017400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:133009800-133017600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:133010000-133012000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
10	chr2:133010400-133017400	ZNF genes & repeats	Colonic Mucosa	Colon
11	chr2:133010400-133017400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
12	chr2:133010400-133017600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr2:133010600-133012600	ZNF genes & repeats	Fetal Stomach	stomach
14	chr2:133010600-133017400	ZNF genes & repeats	Dnd41	blood
15	chr2:133010800-133012000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:133011000-133011800	Weak transcription	Adipose Nuclei	Adipose
17	chr2:133011000-133017600	ZNF genes & repeats	Fetal Intestine Large	intestine
18	chr2:133011400-133017400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr2:133011600-133017400	ZNF genes & repeats	Fetal Thymus	thymus

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