Variant report

Variant	nsv947506
Chromosome Location	chr1:152203216-152223222
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	chr1:152217020-152217170	AoAF	blood vessel:	n/a	n/a
2	E2F4	chr1:152213173-152213360	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr1:152217142-152217393	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr1:152217087-152217636	MCF10A-Er-Src	breast:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
5	FOS	chr1:152217108-152217656	MCF10A-Er-Src	breast:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
6	FOS	chr1:152217070-152217741	MCF10A-Er-Src	breast:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
7	FOS	chr1:152217127-152217647	MCF10A-Er-Src	breast:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
8	GATA3	chr1:152217233-152217681	SK-N-SH	brain:	n/a	chr1:152217502-152217511
9	GATA3	chr1:152219068-152219219	SH-SY5Y	brain:	n/a	n/a
10	IRF3	chr1:152220329-152220432	GM12878	blood:	n/a	n/a
11	JUND	chr1:152217174-152217854	SK-N-SH	brain:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217502-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
12	JUND	chr1:152217136-152217677	Hela-S3	cervix:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217502-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
13	JUND	chr1:152217318-152217680	HepG2	liver:	n/a	chr1:152217504-152217512 chr1:152217504-152217513 chr1:152217502-152217513 chr1:152217504-152217511 chr1:152217503-152217512 chr1:152217502-152217514
14	JUND	chr1:152217440-152217470	K562	blood:	n/a	n/a
15	MYC	chr1:152219154-152219211	MCF10A-Er-Src	breast:	n/a	n/a
16	MYC	chr1:152217076-152217405	MCF10A-Er-Src	breast:	n/a	n/a
17	POLR2A	chr1:152207010-152207015	K562	blood:	n/a	n/a
18	POLR2A	chr1:152206347-152206414	K562	blood:	n/a	n/a
19	POLR2A	chr1:152208157-152208276	K562	blood:	n/a	n/a
20	POLR2A	chr1:152207586-152207790	K562	blood:	n/a	n/a
21	POLR2A	chr1:152214942-152215251	K562	blood:	n/a	n/a
22	POLR2A	chr1:152215933-152216083	K562	blood:	n/a	n/a
23	POLR2A	chr1:152205041-152205455	K562	blood:	n/a	n/a
24	POLR2A	chr1:152223172-152223257	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:152217233-152217464	K562	blood:	n/a	n/a
26	POLR2A	chr1:152211206-152213192	K562	blood:	n/a	n/a
27	RFX5	chr1:152206167-152206174	K562	blood:	n/a	n/a
28	RFX5	chr1:152211911-152211913	K562	blood:	n/a	n/a
29	STAT3	chr1:152217204-152217457	MCF10A-Er-Src	breast:	n/a	chr1:152217313-152217322 chr1:152217312-152217321
30	STAT3	chr1:152220484-152220569	MCF10A-Er-Src	breast:	n/a	chr1:152220488-152220497 chr1:152220489-152220498 chr1:152220486-152220500
31	STAT3	chr1:152220174-152220222	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr1:152217197-152217508	MCF10A-Er-Src	breast:	n/a	chr1:152217313-152217322 chr1:152217312-152217321
33	STAT3	chr1:152220067-152220185	MCF10A-Er-Src	breast:	n/a	n/a
34	STAT3	chr1:152208065-152208265	MCF10A-Er-Src	breast:	n/a	n/a
35	STAT3	chr1:152213052-152213099	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF7L2	chr1:152207528-152207664	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152214610..152216817-chr1:152217355..152219873,2	K562	blood:
2	chr1:152214610..152216817-chr1:152217355..152219873,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LCE5A-2	chr1:152221371-152221488	ENSG00000237975

Variant related genes	Relation type
FLG-AS1	TF binding region
PLSCR4	miRNA target sites

Extended variants
information (count: 558 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:558 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570212102	chr1:152207629-152207630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201762619	chr1:152207642-152207643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201906187	chr1:152207661-152207662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577800951	chr1:152207733-152207734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540429784	chr1:152207745-152207746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566965153	chr1:152207812-152207813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139756814	chr1:152207832-152207833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574004242	chr1:152207841-152207842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12034289	chr1:152207975-152207976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs12034291	chr1:152207994-152207995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542608404	chr1:152208042-152208043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562504234	chr1:152208092-152208093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560283717	chr1:152208095-152208096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181999957	chr1:152208142-152208143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184461521	chr1:152208143-152208144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370908297	chr1:152208179-152208180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144446518	chr1:152208201-152208202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74605895	chr1:152208205-152208206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190137637	chr1:152208292-152208293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376294539	chr1:152208296-152208297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529559155	chr1:152208297-152208298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12071425	chr1:152208304-152208305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12072520	chr1:152208305-152208306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548944052	chr1:152208311-152208312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571750595	chr1:152208345-152208346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568955678	chr1:152208360-152208361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56206350	chr1:152208374-152208375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545446696	chr1:152208390-152208391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563764548	chr1:152208441-152208442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538327621	chr1:152208462-152208463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557931005	chr1:152208531-152208532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72506293	chr1:152208542-152208543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34748881	chr1:152208543-152208544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571715745	chr1:152208610-152208611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181110807	chr1:152208625-152208626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11581805	chr1:152208660-152208661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573965045	chr1:152208680-152208681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199936592	chr1:152208702-152208703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55873880	chr1:152208827-152208828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542974161	chr1:152208841-152208842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563066999	chr1:152208878-152208879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186389696	chr1:152208888-152208889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545001709	chr1:152208946-152208947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4845751	chr1:152208997-152208998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs113719311	chr1:152209025-152209026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374116367	chr1:152209044-152209045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548541510	chr1:152209077-152209078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189328532	chr1:152209081-152209082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529539210	chr1:152209129-152209130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs180930168	chr1:152209224-152209225	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152207600-152215400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:152215400-152215600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:152215600-152216600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:152216600-152218000	Enhancers	NHEK	skin
5	chr1:152216600-152218200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:152216600-152218600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:152217000-152217600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:152217000-152217600	Enhancers	HMEC	breast
9	chr1:152217000-152217800	Enhancers	NHDF-Ad	bronchial
10	chr1:152217000-152217800	Enhancers	Osteobl	bone
11	chr1:152217000-152218600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:152217400-152217600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:152217400-152218000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:152217600-152220000	Weak transcription	HMEC	breast
15	chr1:152218000-152219800	Weak transcription	NHEK	skin
16	chr1:152218000-152220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:152218200-152220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:152218600-152219200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:152218600-152219200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:152218600-152224600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:152218800-152223200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:152219400-152230200	Weak transcription	Ovary	ovary
23	chr1:152219800-152224400	Enhancers	NHEK	skin
24	chr1:152220000-152220600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:152220000-152220800	Enhancers	HMEC	breast
26	chr1:152220000-152221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:152220000-152221600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:152220600-152224000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:152220800-152230400	Weak transcription	Brain Angular Gyrus	brain
30	chr1:152221000-152222200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:152221600-152222600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:152222200-152225600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr1:152222600-152224400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:152223200-152224400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:152223200-152230400	Weak transcription	Stomach Smooth Muscle	stomach

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