Variant report

Variant	nsv581258
Chromosome Location	chr2:30370180-30370785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:424)
CpG islands
(count:183)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:30370782-30370881	HepG2	liver:	n/a	n/a
2	ATF3	chr2:30370101-30370496	K562	blood:	n/a	n/a
3	ATF3	chr2:30370564-30370934	HepG2	liver:	n/a	n/a
4	ATF3	chr2:30370597-30370911	K562	blood:	n/a	n/a
5	ATF3	chr2:30370550-30370998	GM12878	blood:	n/a	n/a
6	ATF3	chr2:30370468-30371040	HepG2	liver:	n/a	n/a
7	ATF3	chr2:30370606-30370963	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr2:30370687-30370877	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:30370489-30370988	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:30370597-30370942	K562	blood:	n/a	n/a
11	CCNT2	chr2:30369080-30371315	K562	blood:	n/a	chr2:30369709-30369718 chr2:30369566-30369575 chr2:30369670-30369679
12	CHD1	chr2:30368604-30371625	IMR90	lung:	n/a	chr2:30369572-30369582 chr2:30369567-30369577
13	CHD1	chr2:30369745-30370204	GM12878	blood:	n/a	n/a
14	CHD1	chr2:30370437-30371339	GM12878	blood:	n/a	n/a
15	CHD2	chr2:30369162-30370932	Hela-S3	cervix:	n/a	chr2:30369572-30369582 chr2:30369567-30369577
16	CHD2	chr2:30370370-30370930	K562	blood:	n/a	n/a
17	CHD2	chr2:30370435-30370577	HepG2	liver:	n/a	n/a
18	CHD2	chr2:30370341-30370930	GM12878	blood:	n/a	n/a
19	CHD2	chr2:30370626-30371139	H1-hESC	embryonic stem cell:	n/a	n/a
20	CREB1	chr2:30370092-30371005	A549	lung:	n/a	n/a
21	CTCF	chr2:30370668-30370971	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:30370760-30370910	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr2:30370720-30370870	NHEK	skin:	n/a	n/a
24	CTCF	chr2:30370760-30370910	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr2:30370660-30370810	NHLF	lung:	n/a	n/a
26	CTCF	chr2:30370760-30370910	HVMF	connective:	n/a	n/a
27	CTCF	chr2:30370278-30370296	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr2:30370725-30370895	GM20000	blood:	n/a	n/a
29	CTCF	chr2:30370760-30370910	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr2:30370697-30370928	GM13977	blood:	n/a	n/a
31	CTCF	chr2:30370760-30370910	HPAF	blood vessel:	n/a	n/a
32	CTCF	chr2:30370780-30370930	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr2:30370681-30370912	Lung_OC	lung:	n/a	n/a
34	CTCF	chr2:30370670-30370947	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:30370720-30370870	Caco-2	colon:	n/a	n/a
36	CTCF	chr2:30370720-30370870	GM12867	blood:	n/a	n/a
37	CTCF	chr2:30370680-30370830	HVMF	connective:	n/a	n/a
38	CTCF	chr2:30370735-30370847	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr2:30370704-30370940	GM12878	blood:	n/a	n/a
40	CTCF	chr2:30370720-30370870	GM12872	blood:	n/a	n/a
41	CTCF	chr2:30370760-30370910	HMF	breast:	n/a	n/a
42	CTCF	chr2:30370760-30370910	AG09319	gingival:	n/a	n/a
43	CTCF	chr2:30370678-30370939	GM10266	blood:	n/a	n/a
44	CTCF	chr2:30370600-30370750	HCM	heart:	n/a	n/a
45	CTCF	chr2:30370680-30370830	AG04450	lung:	n/a	n/a
46	CTCF	chr2:30370720-30370870	GM12871	blood:	n/a	n/a
47	CTCF	chr2:30370720-30370870	GM12874	blood:	n/a	n/a
48	CTCF	chr2:30370679-30370858	A549	lung:	n/a	n/a
49	CTCF	chr2:30370699-30370901	GM10248	blood:	n/a	n/a
50	CTCF	chr2:30370720-30370870	AG09319	gingival:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:30370168-30370218	HUVEC	blood vessel:	n/a
2	chr2:30370632-30370682	BE2_C	brain:	n/a
3	chr2:30370168-30370218	PrEC	prostate:	n/a
4	chr2:30370629-30370679	PrEC	prostate:	n/a
5	chr2:30370168-30370218	T-47D	breast:	n/a
6	chr2:30370168-30370218	AG04450	lung:	fetal
7	chr2:30370632-30370682	U87	brain:	n/a
8	chr2:30370168-30370218	BE2_C	brain:	n/a
9	chr2:30370168-30370218	GM06990	blood:	n/a
10	chr2:30370168-30370218	HPAEpiC	pulmonary alveolar:	n/a
11	chr2:30370629-30370679	HCM	heart:	n/a
12	chr2:30370632-30370682	SK-N-MC	brain:	n/a
13	chr2:30370629-30370679	HRCEpiC	kidney:	n/a
14	chr2:30370168-30370218	HIPEpiC	eye:	n/a
15	chr2:30370632-30370682	HPAEpiC	pulmonary alveolar:	n/a
16	chr2:30370168-30370218	PFSK-1	brain:	n/a
17	chr2:30370629-30370679	BE2_C	brain:	n/a
18	chr2:30370168-30370218	IMR90	lung:	fetal
19	chr2:30370629-30370679	HEK293	kidney:	embryo
20	chr2:30370168-30370218	GM12892	blood:	n/a
21	chr2:30370629-30370679	HCPEpiC	choroid plexus:	n/a
22	chr2:30370168-30370218	GM19239	blood:	n/a
23	chr2:30370632-30370682	SK-N-SH	brain:	n/a
24	chr2:30370168-30370218	MCF-7	breast:	n/a
25	chr2:30370632-30370682	AG10803	skin:	n/a
26	chr2:30370168-30370218	PANC-1	pancreas:	n/a
27	chr2:30370632-30370682	NH-A	brain:	n/a
28	chr2:30370632-30370682	GM06990	blood:	n/a
29	chr2:30370168-30370218	AG04449	skin:	fetal
30	chr2:30370629-30370679	HCF	heart:	n/a
31	chr2:30370632-30370682	ovcar-3	ovarian:	n/a
32	chr2:30370168-30370218	HEEpiC	esophagus:	n/a
33	chr2:30370629-30370679	Hepatocyte	liver:	n/a
34	chr2:30370629-30370679	GM12891	blood:	n/a
35	chr2:30370629-30370679	NHDF-neo	bronchial:	n/a
36	chr2:30370168-30370218	NHBE	bronchial:	n/a
37	chr2:30370632-30370682	GM19239	blood:	n/a
38	chr2:30370629-30370679	AG04450	lung:	fetal
39	chr2:30370632-30370682	BJ	skin:	n/a
40	chr2:30370168-30370218	Hepatocyte	liver:	n/a
41	chr2:30370632-30370682	AG09309	skin:	n/a
42	chr2:30370168-30370218	AG09319	gingival:	n/a
43	chr2:30370168-30370218	RPTEC	kidney:	n/a
44	chr2:30370632-30370682	HRPEpiC	eye:	n/a
45	chr2:30370629-30370679	GM12878	blood:	n/a
46	chr2:30370168-30370218	NB4	blood:	n/a
47	chr2:30370629-30370679	AG09309	skin:	n/a
48	chr2:30370629-30370679	LNCaP	prostate:	n/a
49	chr2:30370629-30370679	PANC-1	pancreas:	n/a
50	chr2:30370168-30370218	SK-N-SH_RA	brain:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:30361445..30366413-chr2:30367443..30370864,6	MCF-7	breast:
2	chr2:30362220..30364424-chr2:30369262..30372123,2	K562	blood:
3	chr2:30368663..30370783-chr2:30453321..30456156,2	K562	blood:
4	chr2:30370673..30372393-chr2:30454162..30455838,3	K562	blood:
5	chr2:30366474..30375732-chr2:30375765..30384167,14	MCF-7	breast:
6	chr2:30369470..30372362-chr2:30669050..30670728,2	MCF-7	breast:
7	chr2:30369876..30376242-chr2:30376921..30381158,8	K562	blood:
8	chr2:30357579..30360858-chr2:30368602..30370618,3	MCF-7	breast:

No data

Variant related genes	Relation type
YPEL5	TF binding region
ENSG00000233862	TF binding region
YPEL5	CpG island
ENSG00000233862	CpG island
ENSG00000233862	chromatin interactions
ENSG00000119801	chromatin interactions
ENSG00000172954	chromatin interactions
ENSG00000213626	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561345406	chr2:30370233-30370234	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs530549862	chr2:30370270-30370271	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs550248074	chr2:30370272-30370273	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs570641041	chr2:30370295-30370296	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs532954812	chr2:30370324-30370325	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs546877240	chr2:30370432-30370433	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs12987354	chr2:30370478-30370479	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs566610537	chr2:30370496-30370497	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs535736169	chr2:30370536-30370537	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs572448701	chr2:30370552-30370553	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs115948611	chr2:30370560-30370561	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs188962590	chr2:30370579-30370580	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs200712233	chr2:30370596-30370597	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs112115382	chr2:30370694-30370695	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs578139310	chr2:30370718-30370719	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs181330454	chr2:30370739-30370740	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs554335894	chr2:30370741-30370742	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Medulloblastoma	16968546	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	18927303	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Tetralogy of Fallot	22912587	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30368600-30370800	Active TSS	Fetal Brain Female	brain
2	chr2:30368600-30371200	Active TSS	Brain Angular Gyrus	brain
3	chr2:30368800-30371000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:30368800-30371000	Active TSS	Skeletal Muscle Female	skeletal muscle
5	chr2:30368800-30371200	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr2:30368800-30371200	Active TSS	Brain Anterior Caudate	brain
7	chr2:30369000-30371000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:30369000-30371000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:30369000-30371000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:30369000-30371000	Active TSS	Brain Substantia Nigra	brain
11	chr2:30369000-30371000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:30369000-30371000	Active TSS	Fetal Intestine Small	intestine
13	chr2:30369000-30371000	Active TSS	Stomach Mucosa	stomach
14	chr2:30369000-30371200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:30369000-30371200	Active TSS	Aorta	Aorta
16	chr2:30369000-30371200	Active TSS	Left Ventricle	heart
17	chr2:30369000-30371200	Active TSS	Ovary	ovary
18	chr2:30369000-30371200	Active TSS	Pancreas	Pancrea
19	chr2:30369000-30371200	Active TSS	Psoas Muscle	Psoas
20	chr2:30369000-30371400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:30369000-30371400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr2:30369000-30371400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:30369000-30371400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr2:30369000-30371400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr2:30369000-30371400	Active TSS	Right Atrium	heart
26	chr2:30369000-30371400	Active TSS	Right Ventricle	heart
27	chr2:30369000-30371600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:30369000-30371600	Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:30369000-30372800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr2:30369200-30370800	Active TSS	Primary B cells from cord blood	blood
31	chr2:30369200-30370800	Active TSS	Primary T cells fromperipheralblood	blood
32	chr2:30369200-30370800	Active TSS	Primary T helper naive cells from peripheral blood	blood
33	chr2:30369200-30370800	Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr2:30369200-30370800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr2:30369200-30371000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:30369200-30371000	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr2:30369200-30371000	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr2:30369200-30371000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:30369200-30371000	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr2:30369200-30371000	Active TSS	Primary B cells from peripheral blood	blood
41	chr2:30369200-30371000	Active TSS	Primary T cells from cord blood	blood
42	chr2:30369200-30371000	Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr2:30369200-30371000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:30369200-30371000	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr2:30369200-30371000	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr2:30369200-30371000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:30369200-30371000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:30369200-30371000	Active TSS	Brain Hippocampus Middle	brain
49	chr2:30369200-30371000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr2:30369200-30371000	Active TSS	Colon Smooth Muscle	Colon

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