Variant report

Variant	nsv874343
Chromosome Location	chr2:77848881-77899045
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:86)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:86 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:77856705-77856971	HepG2	liver:	n/a	n/a
2	BACH1	chr2:77858291-77858408	K562	blood:	n/a	n/a
3	CEBPB	chr2:77861644-77861916	IMR90	lung:	n/a	chr2:77861765-77861776
4	CEBPB	chr2:77866132-77866309	A549	lung:	n/a	chr2:77866208-77866219
5	CEBPB	chr2:77870309-77870701	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:77857855-77858007	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:77866168-77866347	HepG2	liver:	n/a	chr2:77866208-77866219
8	CEBPB	chr2:77861626-77861952	A549	lung:	n/a	chr2:77861765-77861776
9	CEBPB	chr2:77893984-77894002	A549	lung:	n/a	n/a
10	CEBPB	chr2:77855784-77856051	HepG2	liver:	n/a	chr2:77855924-77855935 chr2:77855922-77855939 chr2:77855923-77855936
11	CEBPB	chr2:77861689-77861796	H1-hESC	embryonic stem cell:	n/a	chr2:77861765-77861776
12	CEBPB	chr2:77893819-77894063	HepG2	liver:	n/a	chr2:77893930-77893941
13	CEBPB	chr2:77870422-77870629	H1-hESC	embryonic stem cell:	n/a	n/a
14	CEBPB	chr2:77893764-77894088	HepG2	liver:	n/a	chr2:77893930-77893941
15	CEBPB	chr2:77861610-77861945	HepG2	liver:	n/a	chr2:77861765-77861776
16	CEBPB	chr2:77870317-77870489	K562	blood:	n/a	n/a
17	CEBPB	chr2:77870443-77870684	A549	lung:	n/a	n/a
18	CEBPB	chr2:77878013-77878356	HepG2	liver:	n/a	chr2:77878197-77878206 chr2:77878196-77878207
19	CTCF	chr2:77869920-77870070	WERI-Rb-1	eye:	n/a	n/a
20	CTCF	chr2:77878631-77878811	K562	blood:	n/a	n/a
21	CTCF	chr2:77894725-77894782	GM10266	blood:	n/a	n/a
22	E2F4	chr2:77888173-77888260	MCF10A-Er-Src	breast:	n/a	n/a
23	E2F4	chr2:77880425-77880669	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr2:77881232-77881425	MCF10A-Er-Src	breast:	n/a	n/a
25	ELF1	chr2:77856696-77856881	HepG2	liver:	n/a	chr2:77856763-77856774
26	EP300	chr2:77893873-77893901	HepG2	liver:	n/a	n/a
27	EP300	chr2:77893798-77894107	HepG2	liver:	n/a	n/a
28	EP300	chr2:77856665-77857044	HepG2	liver:	n/a	n/a
29	EP300	chr2:77893717-77894171	HepG2	liver:	n/a	n/a
30	FAM48A	chr2:77851396-77851534	GM12878	blood:	n/a	n/a
31	FOSL2	chr2:77893830-77894142	HepG2	liver:	n/a	n/a
32	FOXA1	chr2:77893740-77894142	HepG2	liver:	n/a	n/a
33	FOXA1	chr2:77856641-77857102	HepG2	liver:	n/a	n/a
34	FOXA1	chr2:77856611-77857114	HepG2	liver:	n/a	n/a
35	FOXA1	chr2:77856692-77857122	HepG2	liver:	n/a	n/a
36	FOXA1	chr2:77893629-77894136	HepG2	liver:	n/a	n/a
37	FOXA1	chr2:77856655-77857116	HepG2	liver:	n/a	n/a
38	FOXA1	chr2:77893691-77894101	HepG2	liver:	n/a	n/a
39	FOXA2	chr2:77856646-77857040	HepG2	liver:	n/a	n/a
40	FOXA2	chr2:77893722-77894056	HepG2	liver:	n/a	n/a
41	GATA3	chr2:77848856-77849048	SH-SY5Y	brain:	n/a	n/a
42	HEY1	chr2:77887557-77887773	HepG2	liver:	n/a	n/a
43	JUN	chr2:77860737-77861098	HepG2	liver:	n/a	chr2:77860912-77860925
44	JUND	chr2:77860734-77861112	HepG2	liver:	n/a	n/a
45	JUND	chr2:77860664-77861199	SK-N-SH	brain:	n/a	n/a
46	KAP1	chr2:77868089-77868508	U2OS	brain:	n/a	n/a
47	KAP1	chr2:77867943-77868588	HEK293	kidney:	n/a	n/a
48	MAFF	chr2:77884893-77885047	HepG2	liver:	n/a	n/a
49	MAFF	chr2:77858160-77858488	HepG2	liver:	n/a	chr2:77858307-77858325
50	MAFF	chr2:77858203-77858442	K562	blood:	n/a	chr2:77858307-77858325

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:77856944-77856994	Hela-S3	cervix:	n/a
2	chr2:77856944-77856994	HEK293	kidney:	embryo
3	chr2:77856944-77856994	PrEC	prostate:	n/a
4	chr2:77856944-77856994	SKMC	muscle:	n/a
5	chr2:77856944-77856994	SK-N-MC	brain:	n/a
6	chr2:77856944-77856994	AG04450	lung:	fetal
7	chr2:77856944-77856994	BJ	skin:	n/a
8	chr2:77856944-77856994	Caco-2	colon:	n/a
9	chr2:77856944-77856994	HMEC	breast:	n/a
10	chr2:77856944-77856994	HepG2	liver:	n/a
11	chr2:77856944-77856994	GM06990	blood:	n/a
12	chr2:77856944-77856994	T-47D	breast:	n/a
13	chr2:77856944-77856994	PFSK-1	brain:	n/a
14	chr2:77856944-77856994	HAEpiC	amniotic membrane:	n/a
15	chr2:77856944-77856994	RPTEC	kidney:	n/a
16	chr2:77856944-77856994	NHBE	bronchial:	n/a
17	chr2:77856944-77856994	HRCEpiC	kidney:	n/a
18	chr2:77856944-77856994	SK-N-SH	brain:	n/a
19	chr2:77856944-77856994	ProgFib	skin:	n/a
20	chr2:77856944-77856994	U87	brain:	n/a
21	chr2:77856944-77856994	GM12891	blood:	n/a
22	chr2:77856944-77856994	IMR90	lung:	fetal
23	chr2:77856944-77856994	AG09319	gingival:	n/a
24	chr2:77856944-77856994	SK-N-SH_RA	brain:	n/a
25	chr2:77856944-77856994	NB4	blood:	n/a
26	chr2:77856944-77856994	NHDF-neo	bronchial:	n/a
27	chr2:77856944-77856994	HRPEpiC	eye:	n/a
28	chr2:77856944-77856994	ovcar-3	ovarian:	n/a
29	chr2:77856944-77856994	MCF-7	breast:	n/a
30	chr2:77856944-77856994	AG04449	skin:	fetal
31	chr2:77856944-77856994	Hepatocyte	liver:	n/a
32	chr2:77856944-77856994	CMK	blood:	n/a
33	chr2:77856944-77856994	HEEpiC	esophagus:	n/a
34	chr2:77856944-77856994	ECC-1	luminal epithelium:	n/a
35	chr2:77856944-77856994	AoSMC	blood vessel:	n/a
36	chr2:77856944-77856994	HNPCEpiC	eye:	n/a
37	chr2:77856944-77856994	NT2-D1	testis:	n/a
38	chr2:77856944-77856994	HCF	heart:	n/a
39	chr2:77856944-77856994	Jurkat	blood:	n/a
40	chr2:77856944-77856994	GM19239	blood:	n/a
41	chr2:77856944-77856994	GM12878	blood:	n/a
42	chr2:77856944-77856994	GM12892	blood:	n/a
43	chr2:77856944-77856994	HCM	heart:	n/a
44	chr2:77856944-77856994	SAEC	small airway:	n/a
45	chr2:77856944-77856994	MCF10A-Er-Src	breast:	n/a
46	chr2:77856944-77856994	BE2_C	brain:	n/a
47	chr2:77856944-77856994	K562	blood:	n/a
48	chr2:77856944-77856994	HIPEpiC	eye:	n/a
49	chr2:77856944-77856994	HL-60	blood:	n/a
50	chr2:77856944-77856994	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57922805..57924826-chr2:77850689..77852567,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRTM4-1	chr2:77881708-77881794	XLOC_002172
2	lnc-LRRTM4-1	chr2:77879539-77879735	XLOC_002172

No data

Variant related genes	Relation type
ENSG00000227088	TF binding region
ENSG00000230968	TF binding region
ENSG00000227088	CpG island
ENSG00000230968	CpG island
PAPD4	miRNA target sites
RAB34	miRNA target sites

Extended variants
information (count: 911 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:911 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371722076	chr2:77852605-77852606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113864892	chr2:77852632-77852633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531936441	chr2:77852663-77852664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62161496	chr2:77852713-77852714	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs559414350	chr2:77852757-77852758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114123161	chr2:77852768-77852769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs66608268	chr2:77852793-77852794	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs373905839	chr2:77852813-77852814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4264584	chr2:77852817-77852818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577381548	chr2:77852823-77852824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs72925962	chr2:77852909-77852910	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs369438893	chr2:77852959-77852960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537257630	chr2:77853030-77853031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544735381	chr2:77853048-77853049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577230087	chr2:77853107-77853108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569351738	chr2:77853109-77853110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553436590	chr2:77853110-77853111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573351729	chr2:77853149-77853150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35200609	chr2:77853212-77853213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182004606	chr2:77853213-77853214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187612804	chr2:77853223-77853224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62161497	chr2:77853243-77853244	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs4852438	chr2:77853302-77853303	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs4852439	chr2:77853378-77853379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533463380	chr2:77853394-77853395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534831467	chr2:77853402-77853403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7421671	chr2:77853426-77853427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs565366510	chr2:77853433-77853434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528188202	chr2:77853444-77853445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190739506	chr2:77853462-77853463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568147315	chr2:77853567-77853568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536814338	chr2:77853603-77853604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62161498	chr2:77853631-77853632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183029219	chr2:77853648-77853649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539770467	chr2:77853650-77853651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148356343	chr2:77853658-77853659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4271793	chr2:77853687-77853688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573196840	chr2:77853876-77853877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs72813170	chr2:77853906-77853907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186798143	chr2:77853937-77853938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575715705	chr2:77853954-77853955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544445671	chr2:77853963-77853964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564376278	chr2:77853979-77853980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577897856	chr2:77853980-77853981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540573304	chr2:77854005-77854006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147460936	chr2:77854024-77854025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190074984	chr2:77854049-77854050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531717408	chr2:77854069-77854070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374115240	chr2:77854070-77854071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182720951	chr2:77854085-77854086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77852600-77852800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:77852800-77856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:77854000-77854800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:77854200-77857200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr2:77854600-77854800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:77854600-77855000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:77854800-77856200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:77854800-77856200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:77855000-77856200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:77855000-77856600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:77856200-77856400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:77856200-77856400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:77856200-77856800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:77856200-77856800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:77856200-77857000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:77856200-77857400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:77856400-77856800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr2:77856400-77856800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:77856600-77857000	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr2:77856600-77857200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:77856600-77857200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:77856600-77857400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:77856600-77857400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:77856600-77857400	Enhancers	Fetal Heart	heart
25	chr2:77856600-77857400	Enhancers	HepG2	liver
26	chr2:77856800-77857000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:77856800-77857200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:77856800-77857200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:77856800-77857200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:77856800-77857200	Enhancers	Brain Hippocampus Middle	brain
31	chr2:77856800-77857400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:77856800-77857400	Enhancers	Brain Angular Gyrus	brain
33	chr2:77856800-77857400	Enhancers	Brain Cingulate Gyrus	brain
34	chr2:77856800-77857400	Enhancers	Brain Germinal Matrix	brain
35	chr2:77856800-77858200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr2:77857000-77857200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:77857000-77857400	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr2:77857000-77857600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr2:77857200-77857600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:77857200-77857600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:77857200-77857600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:77857400-77869400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:77860000-77861400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:77863400-77869200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:77869200-77869600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:77869400-77869800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:77869400-77870000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:77870000-77870600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
49	chr2:77877600-77878000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:77892000-77893800	Enhancers	Fetal Lung	lung

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