Variant report

Variant	nsv946179
Chromosome Location	chr1:120007180-120016651
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	ARID3A	chr1:120010654-120011034	HepG2	liver:	n/a	n/a
2	CEBPB	chr1:120010593-120010979	HepG2	liver:	n/a	chr1:120010749-120010760
3	CEBPB	chr1:120010550-120010982	HepG2	liver:	n/a	chr1:120010749-120010760
4	CEBPB	chr1:120010678-120010879	HepG2	liver:	n/a	chr1:120010749-120010760
5	CEBPD	chr1:120010588-120010885	HepG2	liver:	n/a	n/a
6	CEBPD	chr1:120010641-120010880	HepG2	liver:	n/a	n/a
7	CTCF	chr1:120014380-120014530	HEK293	kidney:	n/a	n/a
8	CTCF	chr1:120014327-120014481	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr1:120014360-120014510	HepG2	liver:	n/a	n/a
10	ELK1	chr1:120009308-120009314	Hela-S3	cervix:	n/a	n/a
11	EP300	chr1:120010577-120011042	HepG2	liver:	n/a	n/a
12	FOS	chr1:120012447-120012689	MCF10A-Er-Src	breast:	n/a	chr1:120012563-120012573 chr1:120012564-120012572 chr1:120012563-120012573
13	FOS	chr1:120009928-120010194	MCF10A-Er-Src	breast:	n/a	chr1:120010000-120010007 chr1:120009995-120010006 chr1:120009999-120010007
14	FOS	chr1:120009910-120010170	MCF10A-Er-Src	breast:	n/a	chr1:120010000-120010007 chr1:120009995-120010006 chr1:120009999-120010007
15	FOS	chr1:120012439-120012607	MCF10A-Er-Src	breast:	n/a	chr1:120012563-120012573 chr1:120012564-120012572 chr1:120012563-120012573
16	FOS	chr1:120012408-120012677	MCF10A-Er-Src	breast:	n/a	chr1:120012563-120012573 chr1:120012564-120012572 chr1:120012563-120012573
17	FOS	chr1:120012435-120012566	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr1:120009921-120010187	MCF10A-Er-Src	breast:	n/a	chr1:120010000-120010007 chr1:120009995-120010006 chr1:120009999-120010007
19	FOXA1	chr1:120010649-120011053	HepG2	liver:	n/a	n/a
20	FOXA1	chr1:120010664-120011095	HepG2	liver:	n/a	n/a
21	FOXA1	chr1:120010559-120011039	HepG2	liver:	n/a	n/a
22	FOXA1	chr1:120010524-120011088	HepG2	liver:	n/a	n/a
23	FOXA2	chr1:120010646-120010989	HepG2	liver:	n/a	n/a
24	HDAC2	chr1:120010661-120010973	HepG2	liver:	n/a	chr1:120010884-120010892
25	HDAC2	chr1:120010693-120010995	HepG2	liver:	n/a	chr1:120010884-120010892
26	HNF4A	chr1:120010699-120011079	HepG2	liver:	n/a	n/a
27	HNF4A	chr1:120010778-120010987	HepG2	liver:	n/a	n/a
28	HNF4G	chr1:120010666-120010988	HepG2	liver:	n/a	n/a
29	HNF4G	chr1:120010675-120010984	HepG2	liver:	n/a	n/a
30	MAX	chr1:120015571-120015865	NB4	blood:	n/a	chr1:120015758-120015768
31	MAZ	chr1:120010695-120011119	HepG2	liver:	n/a	chr1:120010767-120010777
32	MYC	chr1:120009882-120010071	MCF10A-Er-Src	breast:	n/a	n/a
33	SP1	chr1:120010610-120011080	HepG2	liver:	n/a	chr1:120010771-120010785 chr1:120010772-120010781 chr1:120010771-120010781

Variant related genes	Relation type
HSD3BP1	TF binding region
GAPDHP23	TF binding region

Extended variants
information (count: 399 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587622281	chr1:120007197-120007198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587704102	chr1:120007240-120007241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376926388	chr1:120007271-120007272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587761661	chr1:120007288-120007289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587630694	chr1:120007319-120007320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587686232	chr1:120007345-120007346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587763006	chr1:120007378-120007379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587650664	chr1:120007381-120007382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587679039	chr1:120007406-120007407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs587765432	chr1:120007447-120007448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs587660305	chr1:120007452-120007453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145751230	chr1:120007502-120007503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4439385	chr1:120007552-120007553	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs587670832	chr1:120007619-120007620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587704749	chr1:120007656-120007657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs147857873	chr1:120007657-120007658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs190774321	chr1:120007659-120007660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587744352	chr1:120007684-120007685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140405817	chr1:120007687-120007688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587677501	chr1:120007698-120007699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587732987	chr1:120007727-120007728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12090844	chr1:120007760-120007761	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs368584779	chr1:120007779-120007780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370257073	chr1:120007793-120007794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12090850	chr1:120007801-120007802	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs587620694	chr1:120007812-120007813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587686055	chr1:120007813-120007814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587774609	chr1:120007824-120007825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs587656223	chr1:120007845-120007846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375692180	chr1:120007866-120007867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11588556	chr1:120007922-120007923	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs143313092	chr1:120007923-120007924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587648457	chr1:120007944-120007945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587707730	chr1:120007953-120007954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587610818	chr1:120007964-120007965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs183012533	chr1:120008013-120008014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375351675	chr1:120008033-120008034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71074416	chr1:120008069-120008070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528257656	chr1:120008071-120008072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148915948	chr1:120008072-120008073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs56316041	chr1:120008074-120008075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376507075	chr1:120008075-120008076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs35956696	chr1:120008077-120008078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11584793	chr1:120008136-120008137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs587601297	chr1:120008145-120008146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587675714	chr1:120008180-120008181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138860755	chr1:120008203-120008204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587610953	chr1:120008213-120008214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587672529	chr1:120008253-120008254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141985086	chr1:120008254-120008255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Medulloblastoma	21979893	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Aetanephric adenomas	20802469	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Systemic lupus erythematosus	21956041	CNVD
Breast cancer	21804112	CNVD
Mental retardation	21062444	CNVD
Myelofibrosis	22110671	CNVD
Emphysema	19352772	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21858162	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120003400-120011800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:120005800-120009200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:120006000-120007200	Weak transcription	NHEK	skin
4	chr1:120006000-120009400	Weak transcription	HMEC	breast
5	chr1:120007200-120007400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:120007200-120007400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:120007200-120007400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr1:120007200-120007600	Enhancers	NHEK	skin
9	chr1:120007600-120009400	Weak transcription	NHEK	skin
10	chr1:120008600-120009000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:120008600-120011200	Enhancers	Adipose Nuclei	Adipose
12	chr1:120008600-120011400	Enhancers	Fetal Intestine Small	intestine
13	chr1:120008600-120012200	Enhancers	Liver	Liver
14	chr1:120008600-120012400	Enhancers	Fetal Intestine Large	intestine
15	chr1:120008800-120009200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr1:120008800-120009200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:120008800-120009400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr1:120008800-120010600	Enhancers	Fetal Lung	lung
19	chr1:120008800-120012200	Enhancers	HepG2	liver
20	chr1:120009200-120010600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:120009400-120010600	Enhancers	HMEC	breast
22	chr1:120009400-120011000	Enhancers	NHEK	skin
23	chr1:120009400-120011200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr1:120009600-120010400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:120009600-120010600	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr1:120009600-120010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:120009600-120011000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:120009800-120010200	Enhancers	Placenta	Placenta
29	chr1:120009800-120011200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr1:120009800-120011200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr1:120010200-120011200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:120010200-120015600	Weak transcription	Placenta	Placenta
33	chr1:120010600-120011200	Enhancers	Pancreas	Pancrea
34	chr1:120010600-120012200	Weak transcription	HMEC	breast
35	chr1:120010600-120012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:120010600-120014600	Weak transcription	Fetal Lung	lung
37	chr1:120010800-120011200	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:120010800-120012000	Enhancers	Fetal Stomach	stomach
39	chr1:120011000-120012000	Weak transcription	NHEK	skin
40	chr1:120011200-120018400	Weak transcription	Pancreas	Pancrea
41	chr1:120011400-120011800	Weak transcription	Fetal Intestine Small	intestine
42	chr1:120011600-120011800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:120011800-120012000	Enhancers	Fetal Intestine Small	intestine
44	chr1:120012000-120014200	Weak transcription	Fetal Stomach	stomach
45	chr1:120012000-120018400	Weak transcription	Fetal Intestine Small	intestine
46	chr1:120012200-120012400	Enhancers	NHEK	skin
47	chr1:120012200-120013200	Enhancers	HMEC	breast
48	chr1:120012200-120017200	Weak transcription	Liver	Liver
49	chr1:120012400-120013000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:120012400-120015400	Weak transcription	Fetal Intestine Large	intestine

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