Variant report

Variant	esv1840572
Chromosome Location	chr2:96669134-96672993
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	CTCF	chr2:96672420-96672570	SK-N-SH_RA	brain:	n/a	chr2:96672441-96672454 chr2:96672435-96672453 chr2:96672438-96672451
2	CTCF	chr2:96672680-96672830	HepG2	liver:	n/a	n/a
3	FOXA2	chr2:96671438-96671649	HepG2	liver:	n/a	n/a
4	MYC	chr2:96672816-96672917	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:96669888-96669943	A549	lung:	n/a	n/a
6	POLR2A	chr2:96670432-96670579	A549	lung:	n/a	n/a
7	POLR2A	chr2:96670581-96670605	A549	lung:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ANKRD36C-3	chr2:96670313-96670601	NONHSAT072529

Variant related genes	Relation type
RN7SL210P	TF binding region
FAHD2CP	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535801257	chr2:96670324-96670325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs552661429	chr2:96670483-96670484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs183900589	chr2:96670491-96670492	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs190379416	chr2:96670497-96670498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533555847	chr2:96670515-96670516	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs564910332	chr2:96670557-96670558	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs545980485	chr2:96671485-96671486	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs536393443	chr2:96671580-96671581	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs562955029	chr2:96671627-96671628	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs567748286	chr2:96671648-96671649	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs561931822	chr2:96672424-96672425	Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs371785599	chr2:96672471-96672472	Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs76001175	chr2:96672526-96672527	Bivalent/Poised TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs531221015	chr2:96672583-96672584	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs547681372	chr2:96672756-96672757	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs570762788	chr2:96672757-96672758	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs532020020	chr2:96672769-96672770	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs565548366	chr2:96672770-96672771	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs577627552	chr2:96672787-96672788	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs186631884	chr2:96672836-96672837	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs562966645	chr2:96672856-96672857	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs568878061	chr2:96672900-96672901	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Neuroblastoma	18574593	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Epilepsy	22083797	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96672400-96672600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle

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