Variant report

Variant	nsv946306
Chromosome Location	chr1:146942304-146961078
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr1:146951617-146951977	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:146951703-146951885	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:146947265-146947660	MCF-7	breast:	n/a	n/a
4	CEBPB	chr1:146951625-146951976	HepG2	liver:	n/a	n/a
5	CHD1	chr1:146947489-146947497	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr1:146945551-146945666	GM13977	blood:	n/a	n/a
7	CTCF	chr1:146943740-146943890	HCT-116	colon:	n/a	n/a
8	EP300	chr1:146947832-146947923	K562	blood:	n/a	n/a
9	EP300	chr1:146950178-146950667	T-47D	breast:	n/a	n/a
10	EP300	chr1:146950258-146950656	T-47D	breast:	n/a	n/a
11	ESR1	chr1:146950252-146950694	T-47D	breast:	n/a	n/a
12	ESR1	chr1:146950329-146950626	T-47D	breast:	n/a	n/a
13	FOS	chr1:146950312-146950667	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr1:146950308-146950678	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr1:146947305-146947603	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:146947284-146947614	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:146951559-146951594	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:146947295-146947614	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr1:146947297-146947614	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr1:146951559-146951624	MCF10A-Er-Src	breast:	n/a	n/a
21	FOSL2	chr1:146947202-146947720	MCF-7	breast:	n/a	n/a
22	FOXA1	chr1:146950245-146950578	T-47D	breast:	n/a	n/a
23	FOXA1	chr1:146950299-146950689	T-47D	breast:	n/a	n/a
24	GATA3	chr1:146942271-146942415	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr1:146950190-146950650	T-47D	breast:	n/a	n/a
26	GATA3	chr1:146950175-146950785	MCF-7	breast:	n/a	n/a
27	GATA3	chr1:146950310-146950607	MCF-7	breast:	n/a	n/a
28	GATA3	chr1:146950193-146950695	T-47D	breast:	n/a	n/a
29	HNF4A	chr1:146951645-146951961	HepG2	liver:	n/a	chr1:146951826-146951841 chr1:146951859-146951874
30	HNF4A	chr1:146951649-146952023	HepG2	liver:	n/a	chr1:146951826-146951841 chr1:146951859-146951874
31	HNF4G	chr1:146951677-146951976	HepG2	liver:	n/a	chr1:146951825-146951840 chr1:146951860-146951875
32	MAX	chr1:146958843-146958850	NB4	blood:	n/a	n/a
33	MXI1	chr1:146957065-146957079	GM12878	blood:	n/a	n/a
34	MYC	chr1:146944882-146945091	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr1:146950335-146950603	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr1:146944783-146945108	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr1:146958814-146958922	GM12878	blood:	n/a	n/a
38	POLR2A	chr1:146958632-146958724	MCF-7	breast:	n/a	n/a
39	POLR2A	chr1:146959291-146959362	K562	blood:	n/a	n/a
40	POLR2A	chr1:146958644-146958764	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:146949799-146950126	H1-neurons	neurons:	n/a	n/a
42	SP1	chr1:146951604-146952009	HepG2	liver:	n/a	n/a
43	SPI1	chr1:146958676-146958873	K562	blood:	n/a	n/a
44	STAT3	chr1:146950341-146950550	MCF10A-Er-Src	breast:	n/a	n/a
45	STAT3	chr1:146957309-146957371	MCF10A-Er-Src	breast:	n/a	n/a
46	STAT3	chr1:146954459-146954659	MCF10A-Er-Src	breast:	n/a	n/a
47	STAT3	chr1:146949726-146949922	MCF10A-Er-Src	breast:	n/a	n/a
48	STAT3	chr1:146947358-146947458	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146955799..146957380-chr1:146959586..146961423,2	MCF-7	breast:
2	chr1:146955799..146957380-chr1:146959586..146961423,2	MCF-7	breast:
3	chr1:146940268..146942026-chr1:146942081..146944197,2	K562	blood:
4	chr1:146951494..146954097-chr1:146954266..146956750,2	MCF-7	breast:
5	chr1:146951931..146954437-chr1:146958626..146960616,2	MCF-7	breast:
6	chr1:146747867..146750269-chr1:146957396..146960272,2	MCF-7	breast:
7	chr1:146941146..146943405-chr1:146951283..146953581,2	MCF-7	breast:
8	chr1:146941146..146943405-chr1:146951283..146953581,2	MCF-7	breast:
9	chr1:146957529..146959986-chr1:146962255..146966212,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACP6-1	chr1:146950210-146950727	NONHSAT006035

No data

Variant related genes	Relation type
OR13Z3P	TF binding region
ENSG00000272480	chromatin interactions

Extended variants
information (count: 873 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:873 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587654212	chr1:146942312-146942313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147165752	chr1:146942316-146942317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587690575	chr1:146942411-146942412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs139359476	chr1:146942412-146942413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370234835	chr1:146942443-146942444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs74760543	chr1:146942445-146942446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191496991	chr1:146942447-146942448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2644577	chr1:146942486-146942487	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs587720388	chr1:146942488-146942489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150024826	chr1:146942493-146942494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587675617	chr1:146942555-146942556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs587708895	chr1:146942578-146942579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs144372722	chr1:146942603-146942604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs374336713	chr1:146942606-146942607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184148882	chr1:146942660-146942661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587666703	chr1:146942675-146942676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2803524	chr1:146942698-146942699	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs587646014	chr1:146942747-146942748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6682637	chr1:146942788-146942789	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs587760156	chr1:146942798-146942799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs587655980	chr1:146942799-146942800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2803523	chr1:146942800-146942801	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs114384311	chr1:146942802-146942803	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587614703	chr1:146942837-146942838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145414120	chr1:146942844-146942845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587757993	chr1:146942883-146942884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs6674761	chr1:146942884-146942885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188640914	chr1:146942885-146942886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377309479	chr1:146942889-146942890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372965005	chr1:146942930-146942931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587713808	chr1:146942966-146942967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587596304	chr1:146942999-146943000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587643146	chr1:146943023-146943024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587725779	chr1:146943057-146943058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587623164	chr1:146943082-146943083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs142607879	chr1:146943132-146943133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587758347	chr1:146943151-146943152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146436775	chr1:146943183-146943184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111810666	chr1:146943197-146943198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587740598	chr1:146943238-146943239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587621680	chr1:146943239-146943240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587693603	chr1:146943259-146943260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587734614	chr1:146943286-146943287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587630538	chr1:146943293-146943294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141696613	chr1:146943322-146943323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs75297365	chr1:146943326-146943327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386635260	chr1:146943343-146943344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2353952	chr1:146943344-146943345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs115412432	chr1:146943382-146943383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112787814	chr1:146943395-146943396	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:156)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146942000-146944800	Enhancers	Adipose Nuclei	Adipose
2	chr1:146942200-146943400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:146943200-146943400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:146943400-146944400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:146943600-146944600	Enhancers	Liver	Liver
6	chr1:146944000-146945800	Enhancers	Fetal Intestine Small	intestine
7	chr1:146944400-146945400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:146944400-146945600	Enhancers	Fetal Intestine Large	intestine
9	chr1:146944600-146945000	Enhancers	Fetal Kidney	kidney
10	chr1:146944600-146945000	Enhancers	Fetal Lung	lung
11	chr1:146944600-146945400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:146944600-146945400	Flanking Active TSS	Liver	Liver
13	chr1:146944600-146945400	Enhancers	Hela-S3	cervix
14	chr1:146944800-146945200	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr1:146945000-146945200	Flanking Active TSS	Duodenum Mucosa	Duodenum
16	chr1:146945200-146945400	Enhancers	Adipose Nuclei	Adipose
17	chr1:146945400-146946600	Enhancers	Liver	Liver
18	chr1:146945600-146947600	Weak transcription	Fetal Intestine Large	intestine
19	chr1:146945800-146951000	Weak transcription	Fetal Intestine Small	intestine
20	chr1:146946600-146946800	Flanking Active TSS	Liver	Liver
21	chr1:146946800-146947000	Enhancers	Liver	Liver
22	chr1:146947000-146947200	Flanking Active TSS	Liver	Liver
23	chr1:146947200-146947600	Enhancers	Liver	Liver
24	chr1:146947600-146950400	Weak transcription	Liver	Liver
25	chr1:146949400-146951200	Weak transcription	Fetal Intestine Large	intestine
26	chr1:146950400-146951000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:146950400-146953000	Enhancers	Liver	Liver
28	chr1:146951000-146952600	Enhancers	Fetal Intestine Small	intestine
29	chr1:146951200-146952800	Enhancers	Fetal Intestine Large	intestine
30	chr1:146951400-146952800	Enhancers	HepG2	liver
31	chr1:146951800-146952400	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:146953000-146953800	Weak transcription	Liver	Liver
33	chr1:146953800-146954000	Enhancers	Liver	Liver
34	chr1:146954000-146963000	Weak transcription	Liver	Liver
35	chr1:146956400-146957000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:146956400-146957200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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