Variant report

Variant	nsv961865
Chromosome Location	chr2:111339288-111370377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:91)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:91 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr2:111366351-111367072	GM12878	blood:	n/a	n/a
2	BATF	chr2:111366301-111367038	GM12878	blood:	n/a	n/a
3	BCL11A	chr2:111366315-111367015	GM12878	blood:	n/a	n/a
4	BCL11A	chr2:111367840-111368075	GM12878	blood:	n/a	chr2:111367894-111367907 chr2:111368062-111368075 chr2:111367932-111367941
5	BCL11A	chr2:111366405-111366926	GM12878	blood:	n/a	n/a
6	BHLHE40	chr2:111357557-111357859	HepG2	liver:	n/a	chr2:111357667-111357680
7	BHLHE40	chr2:111357612-111357794	HepG2	liver:	n/a	chr2:111357667-111357680
8	CEBPB	chr2:111366162-111366762	GM12878	blood:	n/a	chr2:111366724-111366737
9	CTCF	chr2:111358760-111358811	GM20000	blood:	n/a	n/a
10	CTCF	chr2:111359856-111359966	A549	lung:	n/a	n/a
11	CTCF	chr2:111359810-111359963	GM10248	blood:	n/a	n/a
12	CTCF	chr2:111359830-111359939	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr2:111359827-111359949	GM10266	blood:	n/a	n/a
14	CTCF	chr2:111359864-111359963	K562	blood:	n/a	n/a
15	CTCF	chr2:111359871-111359893	Lung_OC	lung:	n/a	n/a
16	CTCF	chr2:111366460-111366527	GM20000	blood:	n/a	n/a
17	CTCF	chr2:111359556-111359610	GM20000	blood:	n/a	n/a
18	CTCF	chr2:111359854-111359923	GM13976	blood:	n/a	n/a
19	CTCF	chr2:111359720-111360050	A549	lung:	n/a	n/a
20	CTCF	chr2:111359836-111359948	GM13977	blood:	n/a	n/a
21	CTCF	chr2:111359740-111359905	GM20000	blood:	n/a	n/a
22	EBF1	chr2:111367741-111368102	GM12878	blood:	n/a	n/a
23	EBF1	chr2:111368743-111368949	GM12878	blood:	n/a	chr2:111368887-111368897 chr2:111368811-111368824
24	EBF1	chr2:111349647-111349883	GM12878	blood:	n/a	n/a
25	EP300	chr2:111366364-111366747	GM12878	blood:	n/a	chr2:111366657-111366667
26	FOSL2	chr2:111344806-111345066	HepG2	liver:	n/a	n/a
27	FOXA1	chr2:111352160-111352647	HepG2	liver:	n/a	n/a
28	FOXA1	chr2:111346043-111346399	HepG2	liver:	n/a	n/a
29	FOXM1	chr2:111366261-111366849	GM12878	blood:	n/a	n/a
30	IRF4	chr2:111366199-111367106	GM12878	blood:	n/a	n/a
31	IRF4	chr2:111366321-111366939	GM12878	blood:	n/a	n/a
32	NFIC	chr2:111366163-111367060	GM12878	blood:	n/a	n/a
33	NFIC	chr2:111366208-111366994	GM12878	blood:	n/a	n/a
34	PAX5	chr2:111366281-111367052	GM12878	blood:	n/a	n/a
35	PAX5	chr2:111366385-111366545	GM12878	blood:	n/a	n/a
36	POLR2A	chr2:111367634-111368152	GM12892	blood:	n/a	n/a
37	POLR2A	chr2:111367593-111368223	GM12891	blood:	n/a	n/a
38	POLR2A	chr2:111367693-111368174	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr2:111368202-111368355	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr2:111366589-111366980	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:111357474-111357934	GM12891	blood:	n/a	n/a
42	POLR2A	chr2:111355997-111356696	GM12892	blood:	n/a	n/a
43	POLR2A	chr2:111368597-111368685	A549	lung:	n/a	n/a
44	POLR2A	chr2:111350742-111350942	GM12878	blood:	n/a	n/a
45	POLR2A	chr2:111367741-111368149	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:111367303-111368260	GM12892	blood:	n/a	n/a
47	POLR2A	chr2:111366376-111367207	GM12892	blood:	n/a	n/a
48	POLR2A	chr2:111367635-111368275	GM12892	blood:	n/a	n/a
49	POLR2A	chr2:111362367-111363573	GM12892	blood:	n/a	n/a
50	POLR2A	chr2:111357639-111357647	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:111367744-111367794	SK-N-MC	brain:	n/a
2	chr2:111367744-111367794	H1-hESC	embryonic stem cell:	embryo
3	chr2:111367744-111367794	HAEpiC	amniotic membrane:	n/a
4	chr2:111367744-111367794	AoSMC	blood vessel:	n/a
5	chr2:111367744-111367794	HEK293	kidney:	embryo
6	chr2:111367744-111367794	ProgFib	skin:	n/a
7	chr2:111367744-111367794	PANC-1	pancreas:	n/a
8	chr2:111367744-111367794	NB4	blood:	n/a
9	chr2:111367744-111367794	HRPEpiC	eye:	n/a
10	chr2:111367744-111367794	Jurkat	blood:	n/a
11	chr2:111367744-111367794	BJ	skin:	n/a
12	chr2:111367744-111367794	AG09319	gingival:	n/a
13	chr2:111367744-111367794	HIPEpiC	eye:	n/a
14	chr2:111367744-111367794	GM12892	blood:	n/a
15	chr2:111367744-111367794	U87	brain:	n/a
16	chr2:111367744-111367794	HCT-116	colon:	n/a
17	chr2:111367744-111367794	MCF10A-Er-Src	breast:	n/a
18	chr2:111367744-111367794	SK-N-SH_RA	brain:	n/a
19	chr2:111367744-111367794	SAEC	small airway:	n/a
20	chr2:111367744-111367794	HMEC	breast:	n/a
21	chr2:111367744-111367794	HL-60	blood:	n/a
22	chr2:111367744-111367794	AG09309	skin:	n/a
23	chr2:111367744-111367794	AG04449	skin:	fetal
24	chr2:111367744-111367794	CMK	blood:	n/a
25	chr2:111367744-111367794	ECC-1	luminal epithelium:	n/a
26	chr2:111367744-111367794	HRCEpiC	kidney:	n/a
27	chr2:111367744-111367794	T-47D	breast:	n/a
28	chr2:111367744-111367794	HCM	heart:	n/a
29	chr2:111367744-111367794	Hepatocyte	liver:	n/a
30	chr2:111367744-111367794	HEEpiC	esophagus:	n/a
31	chr2:111367744-111367794	HCF	heart:	n/a
32	chr2:111367744-111367794	SKMC	muscle:	n/a
33	chr2:111367744-111367794	IMR90	lung:	fetal
34	chr2:111367744-111367794	HPAEpiC	pulmonary alveolar:	n/a
35	chr2:111367744-111367794	SK-N-SH	brain:	n/a
36	chr2:111367744-111367794	GM06990	blood:	n/a
37	chr2:111367744-111367794	AG04450	lung:	fetal
38	chr2:111367744-111367794	AG10803	skin:	n/a
39	chr2:111367744-111367794	HCPEpiC	choroid plexus:	n/a
40	chr2:111367744-111367794	GM12878	blood:	n/a
41	chr2:111367744-111367794	NHBE	bronchial:	n/a
42	chr2:111367744-111367794	NHDF-neo	bronchial:	n/a
43	chr2:111367744-111367794	LNCaP	prostate:	n/a
44	chr2:111367744-111367794	ovcar-3	ovarian:	n/a
45	chr2:111367744-111367794	PrEC	prostate:	n/a
46	chr2:111367744-111367794	A549	lung:	n/a
47	chr2:111367744-111367794	PFSK-1	brain:	n/a
48	chr2:111367744-111367794	HepG2	liver:	n/a
49	chr2:111367744-111367794	K562	blood:	n/a
50	chr2:111367744-111367794	HRE	kidney:	n/a

No data

Variant related genes	Relation type
ENSG00000231536	TF binding region
RGPD6	TF binding region
ENSG00000231536	CpG island
RGPD6	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530207253	chr2:111362692-111362693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550046468	chr2:111362710-111362711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570015335	chr2:111362722-111362723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs539061912	chr2:111362771-111362772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs371034268	chr2:111362777-111362778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552623275	chr2:111362869-111362870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566340126	chr2:111362873-111362874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535350080	chr2:111362897-111362898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552561342	chr2:111363503-111363504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs566085239	chr2:111363526-111363527	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs535335795	chr2:111363571-111363572	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs114873828	chr2:111363575-111363576	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs568625158	chr2:111363590-111363591	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs537275735	chr2:111363591-111363592	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs546809029	chr2:111366291-111366292	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555402472	chr2:111367179-111367180	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs534722851	chr2:111367391-111367392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs185020732	chr2:111367607-111367608	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs554218460	chr2:111367628-111367629	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs55866123	chr2:111367727-111367728	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs568096595	chr2:111368051-111368052	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs536939335	chr2:111368078-111368079	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs557330626	chr2:111368104-111368105	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs577093553	chr2:111368285-111368286	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs539616441	chr2:111368337-111368338	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs553220243	chr2:111368385-111368386	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs573217362	chr2:111368773-111368774	Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542312717	chr2:111368784-111368785	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs561925558	chr2:111368813-111368814	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575627995	chr2:111368847-111368848	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113625475	chr2:111368852-111368853	Active TSS Enhancers	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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111362600-111363000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:111367600-111367800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:111367600-111368000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr2:111367600-111368200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:111367600-111368200	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr2:111367600-111368200	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:111367600-111368200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:111367600-111369000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:111367800-111368200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:111368000-111368600	Active TSS	Left Ventricle	heart
11	chr2:111368000-111368800	Active TSS	Ovary	ovary
12	chr2:111368000-111369000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:111368000-111369000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:111368200-111368400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:111368200-111368800	Active TSS	Right Ventricle	heart
16	chr2:111368400-111368800	Active TSS	Psoas Muscle	Psoas
17	chr2:111368400-111368800	Active TSS	Right Atrium	heart
18	chr2:111368400-111368800	Active TSS	Thymus	Thymus
19	chr2:111368400-111369000	Active TSS	H1 Cell Line	embryonic stem cell
20	chr2:111368400-111369000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:111368400-111369000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:111368400-111369000	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr2:111368800-111369000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:111369000-111369400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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