Variant report

Variant	esv1143710
Chromosome Location	chr2:113842135-113842136
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:113841833-113842200	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:113841883-113842184	K562	blood:	n/a	n/a
3	CBX3	chr2:113841780-113842272	HCT-116	colon:	n/a	n/a
4	CTCF	chr2:113841732-113842286	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:113841859-113842224	GM12878	blood:	n/a	n/a
6	CTCF	chr2:113842020-113842170	GM12873	blood:	n/a	n/a
7	CTCF	chr2:113841888-113842143	HepG2	liver:	n/a	n/a
8	CTCF	chr2:113842060-113842210	HFF	foreskin:	n/a	n/a
9	CTCF	chr2:113841888-113842243	A549	lung:	n/a	n/a
10	CTCF	chr2:113841888-113842180	IMR90	lung:	n/a	n/a
11	CTCF	chr2:113842000-113842150	HBMEC	blood vessel:	n/a	n/a
12	CTCF	chr2:113841755-113842249	HCT-116	colon:	n/a	n/a
13	CTCF	chr2:113841250-113842446	A549	lung:	n/a	n/a
14	CTCF	chr2:113842080-113842230	GM12869	blood:	n/a	n/a
15	CTCF	chr2:113842040-113842190	RPTEC	kidney:	n/a	n/a
16	CTCF	chr2:113841832-113842245	K562	blood:	n/a	n/a
17	CTCF	chr2:113841740-113842240	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:113841956-113842136	Lung_OC	lung:	n/a	n/a
19	CTCF	chr2:113842000-113842150	GM12866	blood:	n/a	n/a
20	CTCF	chr2:113841749-113842236	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr2:113841784-113842225	HepG2	liver:	n/a	n/a
22	CTCF	chr2:113841908-113842135	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr2:113841914-113842140	GM12878	blood:	n/a	n/a
24	CTCF	chr2:113841682-113842424	HCT-116	colon:	n/a	n/a
25	CTCF	chr2:113842040-113842190	NHLF	lung:	n/a	n/a
26	CTCF	chr2:113841907-113842158	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr2:113842000-113842150	HCT-116	colon:	n/a	n/a
28	E2F4	chr2:113841906-113842184	MCF10A-Er-Src	breast:	n/a	n/a
29	FOS	chr2:113841851-113842176	MCF10A-Er-Src	breast:	n/a	n/a
30	FOS	chr2:113841873-113842160	MCF10A-Er-Src	breast:	n/a	n/a
31	MAFK	chr2:113842077-113842163	K562	blood:	n/a	n/a
32	MAX	chr2:113841664-113842249	HCT-116	colon:	n/a	n/a
33	MAX	chr2:113841713-113842204	MCF-7	breast:	n/a	n/a
34	MAX	chr2:113841790-113842151	NB4	blood:	n/a	n/a
35	MYC	chr2:113841773-113842206	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr2:113841805-113842206	MCF10A-Er-Src	breast:	n/a	n/a
37	RAD21	chr2:113841918-113842178	GM12878	blood:	n/a	n/a
38	RAD21	chr2:113841739-113842373	HepG2	liver:	n/a	n/a
39	RAD21	chr2:113841838-113842279	A549	lung:	n/a	n/a
40	RAD21	chr2:113841872-113842171	GM12878	blood:	n/a	n/a
41	RAD21	chr2:113841879-113842191	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr2:113841806-113842339	MCF-7	breast:	n/a	n/a
43	RAD21	chr2:113841904-113842288	ECC-1	luminal epithelium:	n/a	n/a
44	RAD21	chr2:113841912-113842172	HepG2	liver:	n/a	n/a
45	RAD21	chr2:113841709-113842328	HCT-116	colon:	n/a	n/a
46	RAD21	chr2:113841778-113842309	MCF-7	breast:	n/a	n/a
47	RAD21	chr2:113841741-113842310	HCT-116	colon:	n/a	n/a
48	RAD21	chr2:113841891-113842210	HepG2	liver:	n/a	n/a
49	RAD21	chr2:113841752-113842280	A549	lung:	n/a	n/a
50	RAD21	chr2:113841853-113842221	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113840523..113843293-chr2:113890844..113893174,3	MCF-7	breast:
2	chr2:113840473..113842575-chr2:113882514..113884830,2	MCF-7	breast:
3	chr2:113842067..113843806-chr2:113845279..113847597,2	K562	blood:
4	chr2:113834467..113836706-chr2:113841489..113843964,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1180P	TF binding region

Extended variants
information (count: 2 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560186902	chr2:113842135-113842136	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs56078424	chr2:113842136-113842137	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113838200-113842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113838200-113842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113838200-113842200	Weak transcription	Stomach Mucosa	stomach
4	chr2:113839400-113843600	Weak transcription	Esophagus	oesophagus
5	chr2:113839600-113842200	Weak transcription	HMEC	breast
6	chr2:113840000-113842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:113840800-113842400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr2:113841400-113847400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:113842000-113843800	Enhancers	NHEK	skin

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