Variant report

Variant	nsv946394
Chromosome Location	chr1:153017705-153029390
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:153021559-153021593	MCF-7	breast:	n/a	n/a
2	CTCF	chr1:153028820-153028970	HEK293	kidney:	n/a	n/a
3	CTCF	chr1:153028760-153028910	HEEpiC	esophagus:	n/a	n/a
4	CTCF	chr1:153028747-153028824	MCF-7	breast:	n/a	n/a
5	CTCF	chr1:153028840-153028990	WERI-Rb-1	eye:	n/a	n/a
6	CTCF	chr1:153028720-153028870	NHEK	skin:	n/a	n/a
7	CTCF	chr1:153021595-153021606	K562	blood:	n/a	n/a
8	CTCF	chr1:153028820-153028970	HEEpiC	esophagus:	n/a	n/a
9	CTCF	chr1:153027024-153027130	GM20000	blood:	n/a	n/a
10	CTCF	chr1:153028820-153028970	MCF-7	breast:	n/a	n/a
11	CTCF	chr1:153028800-153028950	HMEC	breast:	n/a	n/a
12	CTCF	chr1:153021543-153021615	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F4	chr1:153019006-153019251	MCF10A-Er-Src	breast:	n/a	n/a
14	FOS	chr1:153019001-153019356	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr1:153018939-153019362	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr1:153018939-153019424	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr1:153019001-153019424	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA3	chr1:153018095-153018295	SH-SY5Y	brain:	n/a	n/a
19	JUND	chr1:153023327-153023585	K562	blood:	n/a	n/a
20	MYC	chr1:153018888-153019356	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr1:153018934-153019307	MCF10A-Er-Src	breast:	n/a	n/a
22	PAX5	chr1:153021213-153021465	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:153022461-153022483	MCF-7	breast:	n/a	n/a
24	POLR2A	chr1:153027083-153027546	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr1:153027807-153028278	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr1:153021927-153022008	MCF-7	breast:	n/a	n/a
27	POLR2A	chr1:153021713-153021884	A549	lung:	n/a	n/a
28	POLR2A	chr1:153022497-153022509	MCF-7	breast:	n/a	n/a
29	POLR2A	chr1:153021888-153021897	MCF-7	breast:	n/a	n/a
30	POLR2A	chr1:153022366-153022445	MCF-7	breast:	n/a	n/a
31	POLR2A	chr1:153022145-153022335	Gliobla	brain:	n/a	n/a
32	POLR2A	chr1:153021528-153021836	MCF-7	breast:	n/a	n/a
33	POLR2A	chr1:153022348-153022358	MCF-7	breast:	n/a	n/a
34	POLR2A	chr1:153022340-153022433	H1-hESC	embryonic stem cell:	n/a	n/a
35	STAT3	chr1:153018899-153019299	MCF10A-Er-Src	breast:	n/a	n/a
36	STAT3	chr1:153018936-153019284	MCF10A-Er-Src	breast:	n/a	n/a
37	STAT3	chr1:153018905-153019290	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr1:153018964-153019284	MCF10A-Er-Src	breast:	n/a	n/a
39	ZNF263	chr1:153028046-153028355	HEK293-T-REx	kidney:	n/a	chr1:153028182-153028203

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:153029005-153029055	HCPEpiC	choroid plexus:	n/a
2	chr1:153029005-153029055	Jurkat	blood:	n/a
3	chr1:153029005-153029055	HCT-116	colon:	n/a
4	chr1:153029005-153029055	HRCEpiC	kidney:	n/a
5	chr1:153029005-153029055	BJ	skin:	n/a
6	chr1:153029005-153029055	SAEC	small airway:	n/a
7	chr1:153029005-153029055	SK-N-MC	brain:	n/a
8	chr1:153029005-153029055	IMR90	lung:	fetal
9	chr1:153029005-153029055	AG09309	skin:	n/a
10	chr1:153029005-153029055	Hepatocyte	liver:	n/a
11	chr1:153029005-153029055	Caco-2	colon:	n/a
12	chr1:153029005-153029055	GM12878	blood:	n/a
13	chr1:153029005-153029055	HEK293	kidney:	embryo
14	chr1:153029005-153029055	T-47D	breast:	n/a
15	chr1:153029005-153029055	BE2_C	brain:	n/a
16	chr1:153029005-153029055	AG04449	skin:	fetal
17	chr1:153029005-153029055	HUVEC	blood vessel:	n/a
18	chr1:153029005-153029055	PANC-1	pancreas:	n/a
19	chr1:153029005-153029055	AG04450	lung:	fetal
20	chr1:153029005-153029055	HIPEpiC	eye:	n/a
21	chr1:153029005-153029055	PrEC	prostate:	n/a
22	chr1:153029005-153029055	HRPEpiC	eye:	n/a
23	chr1:153029005-153029055	A549	lung:	n/a
24	chr1:153029005-153029055	SKMC	muscle:	n/a
25	chr1:153029005-153029055	NB4	blood:	n/a
26	chr1:153029005-153029055	ECC-1	luminal epithelium:	n/a
27	chr1:153029005-153029055	GM19239	blood:	n/a
28	chr1:153029005-153029055	HRE	kidney:	n/a
29	chr1:153029005-153029055	K562	blood:	n/a
30	chr1:153029005-153029055	SK-N-SH	brain:	n/a
31	chr1:153029005-153029055	NHBE	bronchial:	n/a
32	chr1:153029005-153029055	HEEpiC	esophagus:	n/a
33	chr1:153029005-153029055	HepG2	liver:	n/a
34	chr1:153029005-153029055	NT2-D1	testis:	n/a
35	chr1:153029005-153029055	AG10803	skin:	n/a
36	chr1:153029005-153029055	PFSK-1	brain:	n/a
37	chr1:153029005-153029055	CMK	blood:	n/a
38	chr1:153029005-153029055	NH-A	brain:	n/a
39	chr1:153029005-153029055	GM12891	blood:	n/a
40	chr1:153029005-153029055	MCF-7	breast:	n/a
41	chr1:153029005-153029055	HAEpiC	amniotic membrane:	n/a
42	chr1:153029005-153029055	ovcar-3	ovarian:	n/a
43	chr1:153029005-153029055	HCM	heart:	n/a
44	chr1:153029005-153029055	H1-hESC	embryonic stem cell:	embryo
45	chr1:153029005-153029055	SK-N-SH_RA	brain:	n/a
46	chr1:153029005-153029055	HCF	heart:	n/a
47	chr1:153029005-153029055	HNPCEpiC	eye:	n/a
48	chr1:153029005-153029055	HPAEpiC	pulmonary alveolar:	n/a
49	chr1:153029005-153029055	NHDF-neo	bronchial:	n/a
50	chr1:153029005-153029055	MCF10A-Er-Src	breast:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153020357..153022432-chr1:153024274..153025794,2	K562	blood:
2	chr1:153023664..153025787-chr1:153028264..153031002,2	K562	blood:
3	chr1:153020357..153022432-chr1:153024274..153025794,2	K562	blood:

No data

Variant related genes	Relation type
SPRR2D	TF binding region
SPRR2D	CpG island
ENSG00000241794	chromatin interactions

Extended variants
information (count: 484 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143948142	chr1:153017731-153017732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542702315	chr1:153017753-153017754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554610285	chr1:153017845-153017846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73022340	chr1:153017908-153017909	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148628047	chr1:153017937-153017938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541485867	chr1:153017969-153017970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75974291	chr1:153017970-153017971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142071326	chr1:153018043-153018044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559783884	chr1:153018113-153018114	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs74835499	chr1:153018117-153018118	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs183841312	chr1:153018131-153018132	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187886555	chr1:153018159-153018160	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs551845745	chr1:153018163-153018164	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs192977212	chr1:153018172-153018173	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs534414906	chr1:153018202-153018203	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs547744345	chr1:153018214-153018215	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs184221030	chr1:153018238-153018239	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs376945048	chr1:153018306-153018307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536923545	chr1:153018317-153018318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556606917	chr1:153018321-153018322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs576566698	chr1:153018333-153018334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539282438	chr1:153018368-153018369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371307463	chr1:153018385-153018386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572527107	chr1:153018414-153018415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73022341	chr1:153018433-153018434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs140734704	chr1:153018468-153018469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4433340	chr1:153018525-153018526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543683599	chr1:153018560-153018561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563474632	chr1:153018601-153018602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532172605	chr1:153018605-153018606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551904592	chr1:153018606-153018607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559130257	chr1:153018636-153018637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs578145667	chr1:153018702-153018703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375033588	chr1:153018710-153018711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528142251	chr1:153018714-153018715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548004322	chr1:153018715-153018716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568026254	chr1:153018805-153018806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536682813	chr1:153018892-153018893	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs80254859	chr1:153018904-153018905	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs4041337	chr1:153018913-153018914	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539344865	chr1:153018931-153018932	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs113455077	chr1:153018943-153018944	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs186670467	chr1:153019005-153019006	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs115897002	chr1:153019015-153019016	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs530913798	chr1:153019034-153019035	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs535097844	chr1:153019068-153019069	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs3856020	chr1:153019087-153019088	Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs78177625	chr1:153019102-153019103	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs543498545	chr1:153019136-153019137	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs72704886	chr1:153019170-153019171	Enhancers	TF binding region	1 gene(s)	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
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
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153015800-153018000	Weak transcription	NHEK	skin
2	chr1:153016600-153018000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:153018000-153019800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:153018000-153019800	Enhancers	NHEK	skin
5	chr1:153019400-153030000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:153021800-153022600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:153021800-153022600	Enhancers	Esophagus	oesophagus
8	chr1:153028200-153028400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:153028400-153030000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:153028600-153030000	Active TSS	Esophagus	oesophagus
11	chr1:153028800-153029000	Enhancers	K562	blood
12	chr1:153029000-153030400	Weak transcription	K562	blood

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