Variant report

Variant	esv3322726
Chromosome Location	chr2:111367758-111385931
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	chr2:111370751-111371086	GM12878	blood:	n/a	n/a
2	BATF	chr2:111370823-111371062	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:111367840-111368075	GM12878	blood:	n/a	chr2:111367894-111367907 chr2:111368062-111368075 chr2:111367932-111367941
4	BCL11A	chr2:111370800-111371091	GM12878	blood:	n/a	chr2:111371050-111371059 chr2:111371049-111371058
5	BCL11A	chr2:111370725-111371161	GM12878	blood:	n/a	chr2:111371050-111371059 chr2:111371049-111371058
6	BCL11A	chr2:111372385-111372608	GM12878	blood:	n/a	chr2:111372478-111372487
7	CTCF	chr2:111384985-111385026	Medullo	brain:	n/a	n/a
8	EBF1	chr2:111370765-111371052	GM12878	blood:	n/a	n/a
9	EBF1	chr2:111367741-111368102	GM12878	blood:	n/a	n/a
10	EBF1	chr2:111370738-111371028	GM12878	blood:	n/a	n/a
11	EBF1	chr2:111368743-111368949	GM12878	blood:	n/a	chr2:111368887-111368897 chr2:111368811-111368824
12	FOSL2	chr2:111370801-111371116	HepG2	liver:	n/a	chr2:111371050-111371058 chr2:111371050-111371057 chr2:111371049-111371059
13	FOSL2	chr2:111372357-111372619	HepG2	liver:	n/a	chr2:111372479-111372488 chr2:111372478-111372488 chr2:111372478-111372488 chr2:111372479-111372486
14	FOSL2	chr2:111377090-111377385	HepG2	liver:	n/a	n/a
15	FOXM1	chr2:111370651-111371181	GM12878	blood:	n/a	n/a
16	IRF4	chr2:111370752-111371152	GM12878	blood:	n/a	n/a
17	JUND	chr2:111370820-111370947	HepG2	liver:	n/a	n/a
18	JUND	chr2:111370843-111371042	HepG2	liver:	n/a	n/a
19	NFIC	chr2:111370394-111371261	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:111383556-111383587	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr2:111366202-111368759	GM12892	blood:	n/a	n/a
22	POLR2A	chr2:111367693-111368174	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:111368597-111368685	A549	lung:	n/a	n/a
24	POLR2A	chr2:111367650-111368167	GM12891	blood:	n/a	n/a
25	POLR2A	chr2:111372522-111372538	A549	lung:	n/a	n/a
26	POLR2A	chr2:111367634-111368152	GM12892	blood:	n/a	n/a
27	POLR2A	chr2:111367303-111368260	GM12892	blood:	n/a	n/a
28	POLR2A	chr2:111377135-111377296	Gliobla	brain:	n/a	n/a
29	POLR2A	chr2:111368202-111368355	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:111367726-111368187	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:111385423-111386234	K562	blood:	n/a	n/a
32	POLR2A	chr2:111384252-111384261	MCF-7	breast:	n/a	n/a
33	POLR2A	chr2:111367593-111368223	GM12891	blood:	n/a	n/a
34	POLR2A	chr2:111383419-111383430	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr2:111367741-111368149	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:111385852-111385884	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr2:111372554-111372616	A549	lung:	n/a	n/a
38	POLR2A	chr2:111367635-111368275	GM12892	blood:	n/a	n/a
39	POLR2A	chr2:111384094-111384331	ProgFib	skin:	n/a	n/a
40	POU2F2	chr2:111370752-111371092	GM12878	blood:	n/a	n/a
41	POU2F2	chr2:111376898-111377345	GM12878	blood:	n/a	n/a
42	POU2F2	chr2:111367639-111368219	GM12878	blood:	n/a	n/a
43	POU2F2	chr2:111367415-111368175	GM12891	blood:	n/a	n/a
44	REST	chr2:111368199-111368493	HepG2	liver:	n/a	chr2:111368333-111368353 chr2:111368338-111368347 chr2:111368336-111368349
45	REST	chr2:111368104-111368478	U87	brain:	n/a	chr2:111368333-111368353 chr2:111368338-111368347 chr2:111368336-111368349
46	REST	chr2:111368236-111368379	SK-N-SH	brain:	n/a	chr2:111368333-111368353 chr2:111368338-111368347 chr2:111368336-111368349
47	REST	chr2:111368208-111368426	GM12878	blood:	n/a	chr2:111368333-111368353 chr2:111368338-111368347 chr2:111368336-111368349
48	REST	chr2:111368233-111368396	PFSK-1	brain:	n/a	chr2:111368333-111368353 chr2:111368338-111368347 chr2:111368336-111368349
49	REST	chr2:111368173-111368449	HepG2	liver:	n/a	chr2:111368333-111368353 chr2:111368338-111368347 chr2:111368336-111368349
50	REST	chr2:111368204-111368369	PANC-1	pancreas:	n/a	chr2:111368333-111368353 chr2:111368338-111368347 chr2:111368336-111368349

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111367744-111367794	NT2-D1	testis:	n/a
2	chr2:111367744-111367794	SK-N-SH_RA	brain:	n/a
3	chr2:111367744-111367794	GM12892	blood:	n/a
4	chr2:111367744-111367794	NB4	blood:	n/a
5	chr2:111367744-111367794	Hepatocyte	liver:	n/a
6	chr2:111367744-111367794	AG04450	lung:	fetal
7	chr2:111367744-111367794	HNPCEpiC	eye:	n/a
8	chr2:111367744-111367794	SK-N-SH	brain:	n/a
9	chr2:111367744-111367794	HCF	heart:	n/a
10	chr2:111367744-111367794	NHBE	bronchial:	n/a
11	chr2:111367744-111367794	HEK293	kidney:	embryo
12	chr2:111367744-111367794	MCF10A-Er-Src	breast:	n/a
13	chr2:111367744-111367794	AG10803	skin:	n/a
14	chr2:111367744-111367794	AG09319	gingival:	n/a
15	chr2:111367744-111367794	ProgFib	skin:	n/a
16	chr2:111367744-111367794	Hela-S3	cervix:	n/a
17	chr2:111367744-111367794	HL-60	blood:	n/a
18	chr2:111367744-111367794	HRCEpiC	kidney:	n/a
19	chr2:111367744-111367794	HEEpiC	esophagus:	n/a
20	chr2:111367744-111367794	CMK	blood:	n/a
21	chr2:111367744-111367794	SAEC	small airway:	n/a
22	chr2:111367744-111367794	H1-hESC	embryonic stem cell:	embryo
23	chr2:111367744-111367794	Caco-2	colon:	n/a
24	chr2:111367744-111367794	HCM	heart:	n/a
25	chr2:111367744-111367794	HepG2	liver:	n/a
26	chr2:111367744-111367794	GM12878	blood:	n/a
27	chr2:111367744-111367794	U87	brain:	n/a
28	chr2:111367744-111367794	HAEpiC	amniotic membrane:	n/a
29	chr2:111367744-111367794	GM12891	blood:	n/a
30	chr2:111367744-111367794	A549	lung:	n/a
31	chr2:111367744-111367794	BE2_C	brain:	n/a
32	chr2:111367744-111367794	HIPEpiC	eye:	n/a
33	chr2:111367744-111367794	HCT-116	colon:	n/a
34	chr2:111367744-111367794	SK-N-MC	brain:	n/a
35	chr2:111367744-111367794	GM06990	blood:	n/a
36	chr2:111367744-111367794	NH-A	brain:	n/a
37	chr2:111367744-111367794	HRE	kidney:	n/a
38	chr2:111367744-111367794	AG09309	skin:	n/a
39	chr2:111367744-111367794	HRPEpiC	eye:	n/a
40	chr2:111367744-111367794	ovcar-3	ovarian:	n/a
41	chr2:111367744-111367794	HMEC	breast:	n/a
42	chr2:111367744-111367794	PANC-1	pancreas:	n/a
43	chr2:111367744-111367794	HUVEC	blood vessel:	n/a
44	chr2:111367744-111367794	AG04449	skin:	fetal
45	chr2:111367744-111367794	HCPEpiC	choroid plexus:	n/a
46	chr2:111367744-111367794	GM19239	blood:	n/a
47	chr2:111367744-111367794	T-47D	breast:	n/a
48	chr2:111367744-111367794	MCF-7	breast:	n/a
49	chr2:111367744-111367794	PFSK-1	brain:	n/a
50	chr2:111367744-111367794	HPAEpiC	pulmonary alveolar:	n/a

Variant related genes	Relation type
ENSG00000231536	TF binding region
ENSG00000231536	CpG island

Extended variants
information (count: 100 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568096595	chr2:111368051-111368052	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs536939335	chr2:111368078-111368079	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs557330626	chr2:111368104-111368105	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs577093553	chr2:111368285-111368286	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs539616441	chr2:111368337-111368338	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs553220243	chr2:111368385-111368386	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs573217362	chr2:111368773-111368774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs542312717	chr2:111368784-111368785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561925558	chr2:111368813-111368814	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575627995	chr2:111368847-111368848	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113625475	chr2:111368852-111368853	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs376544397	chr2:111377525-111377526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369708703	chr2:111377610-111377611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377694919	chr2:111377612-111377613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570466976	chr2:111377682-111377683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376535871	chr2:111377804-111377805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368910270	chr2:111378130-111378131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201492336	chr2:111378342-111378343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576088489	chr2:111378343-111378344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368816843	chr2:111378593-111378594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs375829335	chr2:111380028-111380029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375236422	chr2:111380156-111380157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370786695	chr2:111380157-111380158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376149589	chr2:111380159-111380160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs70958742	chr2:111380198-111380199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370880820	chr2:111380199-111380200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373889796	chr2:111380201-111380202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546906091	chr2:111380254-111380255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566525862	chr2:111380326-111380327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62162616	chr2:111380337-111380338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535610284	chr2:111380501-111380502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555287043	chr2:111380865-111380866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568967708	chr2:111380882-111380883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs377358300	chr2:111380900-111380901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373047988	chr2:111380977-111380978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374840580	chr2:111381148-111381149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557724959	chr2:111381152-111381153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs577653451	chr2:111381195-111381196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558069701	chr2:111381223-111381224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377310971	chr2:111381237-111381238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200259085	chr2:111381314-111381315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540511741	chr2:111381346-111381347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554478865	chr2:111381395-111381396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577839951	chr2:111381462-111381463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574277021	chr2:111381518-111381519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543174627	chr2:111381559-111381560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562950353	chr2:111381578-111381579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530574705	chr2:111381595-111381596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544371245	chr2:111381612-111381613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564062418	chr2:111381643-111381644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Ocular motor apraxia	21572526	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Idiopathic chronic pancreatitis	21549014	CNVD
Mental retardation	21549014	CNVD
Maculopathy	20981449	CNVD
Nephronophthisis	22470819	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	23813976	CNVD
Developmental delay	21147756	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	20808228	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111367600-111367800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:111367600-111368000	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr2:111367600-111368200	Active TSS	H9 Cell Line	embryonic stem cell
4	chr2:111367600-111368200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:111367600-111368200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr2:111367600-111368200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:111367600-111369000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:111367800-111368200	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr2:111368000-111368600	Active TSS	Left Ventricle	heart
10	chr2:111368000-111368800	Active TSS	Ovary	ovary
11	chr2:111368000-111369000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:111368000-111369000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:111368200-111368400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:111368200-111368800	Active TSS	Right Ventricle	heart
15	chr2:111368400-111368800	Active TSS	Psoas Muscle	Psoas
16	chr2:111368400-111368800	Active TSS	Right Atrium	heart
17	chr2:111368400-111368800	Active TSS	Thymus	Thymus
18	chr2:111368400-111369000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr2:111368400-111369000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:111368400-111369000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:111368400-111369000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr2:111368800-111369000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:111369000-111369400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:111377400-111377600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:111377400-111377600	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr2:111377600-111392000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:111384200-111410200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:111385200-111385400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:111385200-111385400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:111385200-111391800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:111385400-111392000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:111385400-111396000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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