Variant report

Variant	nsv437180
Chromosome Location	chr1:152759678-152773905
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	CTCF	chr1:152769160-152769310	GM12869	blood:	n/a	n/a
2	CTCF	chr1:152772992-152773083	GM10266	blood:	n/a	n/a
3	CTCF	chr1:152769087-152769143	Fibrobl	skin:	n/a	n/a
4	FOS	chr1:152773863-152774161	MCF10A-Er-Src	breast:	n/a	chr1:152774008-152774016 chr1:152774007-152774017 chr1:152774006-152774018
5	FOS	chr1:152773870-152774066	MCF10A-Er-Src	breast:	n/a	chr1:152774008-152774016 chr1:152774007-152774017 chr1:152774006-152774018
6	IRF1	chr1:152771838-152771869	K562	blood:	n/a	n/a
7	MAFF	chr1:152773839-152774176	HepG2	liver:	n/a	chr1:152773999-152774017 chr1:152774005-152774019
8	MAFF	chr1:152773860-152774158	K562	blood:	n/a	chr1:152773999-152774017 chr1:152774005-152774019
9	MAFK	chr1:152773863-152774181	K562	blood:	n/a	chr1:152774009-152774018 chr1:152774008-152774018 chr1:152774006-152774015 chr1:152774002-152774022 chr1:152774005-152774019 chr1:152774004-152774020 chr1:152774001-152774017 chr1:152774001-152774016
10	MAFK	chr1:152773121-152773159	HepG2	liver:	n/a	n/a
11	MAFK	chr1:152773827-152774195	HepG2	liver:	n/a	chr1:152774009-152774018 chr1:152774008-152774018 chr1:152774006-152774015 chr1:152774002-152774022 chr1:152774005-152774019 chr1:152774004-152774020 chr1:152774001-152774017 chr1:152774001-152774016
12	MAFK	chr1:152773841-152774182	IMR90	lung:	n/a	chr1:152774009-152774018 chr1:152774008-152774018 chr1:152774006-152774015 chr1:152774002-152774022 chr1:152774005-152774019 chr1:152774004-152774020 chr1:152774001-152774017 chr1:152774001-152774016
13	MAFK	chr1:152766742-152766841	HepG2	liver:	n/a	chr1:152766787-152766803 chr1:152766788-152766802 chr1:152766791-152766801 chr1:152766785-152766805 chr1:152766792-152766801 chr1:152766789-152766798 chr1:152766784-152766800
14	MAFK	chr1:152773842-152774192	HepG2	liver:	n/a	chr1:152774009-152774018 chr1:152774008-152774018 chr1:152774006-152774015 chr1:152774002-152774022 chr1:152774005-152774019 chr1:152774004-152774020 chr1:152774001-152774017 chr1:152774001-152774016
15	MYC	chr1:152769224-152769300	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr1:152770872-152770963	Gliobla	brain:	n/a	n/a
17	POLR2A	chr1:152760649-152760777	Gliobla	brain:	n/a	n/a
18	POLR2A	chr1:152760407-152760482	Gliobla	brain:	n/a	n/a
19	RFX5	chr1:152772783-152772834	K562	blood:	n/a	n/a
20	SPI1	chr1:152760090-152760329	K562	blood:	n/a	n/a
21	SPI1	chr1:152770565-152770690	K562	blood:	n/a	n/a
22	STAT3	chr1:152773902-152774102	MCF10A-Er-Src	breast:	n/a	n/a
23	ZC3H11A	chr1:152763084-152763093	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152768476-152768526	GM06990	blood:	n/a
2	chr1:152769246-152769296	BJ	skin:	n/a
3	chr1:152769896-152769946	ProgFib	skin:	n/a
4	chr1:152770502-152770552	H1-hESC	embryonic stem cell:	embryo
5	chr1:152770502-152770552	Caco-2	colon:	n/a
6	chr1:152760341-152760391	HCPEpiC	choroid plexus:	n/a
7	chr1:152768267-152768317	AG10803	skin:	n/a
8	chr1:152759772-152759822	MCF10A-Er-Src	breast:	n/a
9	chr1:152768727-152768777	SKMC	muscle:	n/a
10	chr1:152759772-152759822	NT2-D1	testis:	n/a
11	chr1:152769246-152769296	PANC-1	pancreas:	n/a
12	chr1:152770520-152770570	NH-A	brain:	n/a
13	chr1:152759772-152759822	U87	brain:	n/a
14	chr1:152760341-152760391	AoSMC	blood vessel:	n/a
15	chr1:152759772-152759822	HRCEpiC	kidney:	n/a
16	chr1:152759772-152759822	GM19239	blood:	n/a
17	chr1:152770502-152770552	GM12878	blood:	n/a
18	chr1:152769246-152769296	CMK	blood:	n/a
19	chr1:152759772-152759822	HAEpiC	amniotic membrane:	n/a
20	chr1:152769896-152769946	AG09319	gingival:	n/a
21	chr1:152760341-152760391	SKMC	muscle:	n/a
22	chr1:152770520-152770570	MCF10A-Er-Src	breast:	n/a
23	chr1:152769246-152769296	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:152760341-152760391	HAEpiC	amniotic membrane:	n/a
25	chr1:152768476-152768526	HCT-116	colon:	n/a
26	chr1:152760341-152760391	HL-60	blood:	n/a
27	chr1:152768476-152768526	HIPEpiC	eye:	n/a
28	chr1:152760341-152760391	SK-N-MC	brain:	n/a
29	chr1:152770520-152770570	ovcar-3	ovarian:	n/a
30	chr1:152759772-152759822	PANC-1	pancreas:	n/a
31	chr1:152768476-152768526	U87	brain:	n/a
32	chr1:152768267-152768317	MCF10A-Er-Src	breast:	n/a
33	chr1:152768476-152768526	HRE	kidney:	n/a
34	chr1:152768476-152768526	SK-N-MC	brain:	n/a
35	chr1:152760341-152760391	AG09309	skin:	n/a
36	chr1:152768727-152768777	HRPEpiC	eye:	n/a
37	chr1:152769896-152769946	HEK293	kidney:	embryo
38	chr1:152769896-152769946	HAEpiC	amniotic membrane:	n/a
39	chr1:152759772-152759822	HRE	kidney:	n/a
40	chr1:152768267-152768317	HRCEpiC	kidney:	n/a
41	chr1:152769246-152769296	AG10803	skin:	n/a
42	chr1:152768267-152768317	Caco-2	colon:	n/a
43	chr1:152770520-152770570	SKMC	muscle:	n/a
44	chr1:152759772-152759822	T-47D	breast:	n/a
45	chr1:152769896-152769946	LNCaP	prostate:	n/a
46	chr1:152768267-152768317	PrEC	prostate:	n/a
47	chr1:152768727-152768777	HCPEpiC	choroid plexus:	n/a
48	chr1:152769896-152769946	Caco-2	colon:	n/a
49	chr1:152770520-152770570	HCT-116	colon:	n/a
50	chr1:152770502-152770552	AG10803	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152758579..152760547-chr1:152770579..152772468,2	MCF-7	breast:
2	chr1:152769863..152772434-chr1:152783643..152785689,2	MCF-7	breast:

Variant related genes	Relation type
LCE1D	TF binding region
LCE1D	CpG island
ENSG00000186226	chromatin interactions
ENSG00000196734	chromatin interactions

Extended variants
information (count: 245 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:245 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1034109	chr1:152759678-152759679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs548438042	chr1:152759714-152759715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201673645	chr1:152759726-152759727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs199640672	chr1:152759737-152759738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368823755	chr1:152759754-152759755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201115499	chr1:152759773-152759774	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs375762230	chr1:152759775-152759776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs368894637	chr1:152759777-152759778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146608407	chr1:152759787-152759788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559529029	chr1:152759793-152759794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528518200	chr1:152759797-152759798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373179760	chr1:152765680-152765681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547006758	chr1:152765707-152765708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571894933	chr1:152765785-152765786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532821072	chr1:152765804-152765805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577131474	chr1:152765855-152765856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs376317260	chr1:152765880-152765881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553083551	chr1:152765884-152765885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77815219	chr1:152765907-152765908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573023221	chr1:152765918-152765919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183457621	chr1:152765971-152765972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561541602	chr1:152765993-152765994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575031076	chr1:152765994-152765995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551218390	chr1:152766143-152766144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4845485	chr1:152766239-152766240	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs536645919	chr1:152766288-152766289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546956229	chr1:152766308-152766309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs139442521	chr1:152766311-152766312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs546014518	chr1:152766369-152766370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374311866	chr1:152766398-152766399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188326362	chr1:152766457-152766458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536756692	chr1:152766473-152766474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4845323	chr1:152766481-152766482	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs548521421	chr1:152766506-152766507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149853136	chr1:152766507-152766508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566802440	chr1:152766605-152766606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145853104	chr1:152766619-152766620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181847234	chr1:152766631-152766632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570792251	chr1:152766656-152766657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539641747	chr1:152766663-152766664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553244987	chr1:152766668-152766669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79960326	chr1:152766672-152766673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535201565	chr1:152766682-152766683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555317881	chr1:152766747-152766748	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs184819502	chr1:152766778-152766779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs543840623	chr1:152766799-152766800	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs557207860	chr1:152766915-152766916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577163151	chr1:152766977-152766978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545975826	chr1:152767040-152767041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559527173	chr1:152767048-152767049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
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
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
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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152759200-152759800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152759400-152759800	Enhancers	HMEC	breast
3	chr1:152765600-152765800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr1:152765800-152766000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:152766000-152767800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:152766800-152767800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:152767600-152769600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:152767800-152769000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:152768000-152769000	Enhancers	Brain Hippocampus Middle	brain
10	chr1:152769400-152769800	Enhancers	Spleen	Spleen
11	chr1:152769600-152770200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:152770200-152770400	Enhancers	Cortex derived primary cultured neurospheres	brain

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