Variant report

Variant	nsv8702
Chromosome Location	chr1:196943852-196954575
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	ATF1	chr1:196945587-196945612	K562	blood:	n/a	n/a
2	CEBPB	chr1:196950086-196950379	A549	lung:	n/a	chr1:196950212-196950223 chr1:196950213-196950222 chr1:196950211-196950222 chr1:196950211-196950224
3	CEBPB	chr1:196950049-196950365	HepG2	liver:	n/a	chr1:196950212-196950223 chr1:196950213-196950222 chr1:196950211-196950222 chr1:196950211-196950224
4	CEBPB	chr1:196949791-196950375	IMR90	lung:	n/a	chr1:196950029-196950040 chr1:196950212-196950223 chr1:196950213-196950222 chr1:196950029-196950042 chr1:196950029-196950040 chr1:196950211-196950222 chr1:196950211-196950224
5	CEBPB	chr1:196950111-196950319	K562	blood:	n/a	chr1:196950212-196950223 chr1:196950213-196950222 chr1:196950211-196950222 chr1:196950211-196950224
6	CTCF	chr1:196951580-196951730	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr1:196945500-196945650	HepG2	liver:	n/a	n/a
8	E2F4	chr1:196946939-196947279	MCF10A-Er-Src	breast:	n/a	chr1:196947017-196947031
9	E2F4	chr1:196943841-196944024	MCF10A-Er-Src	breast:	n/a	n/a
10	FOXA2	chr1:196946463-196946731	HepG2	liver:	n/a	chr1:196946553-196946565 chr1:196946607-196946619
11	JUN	chr1:196943881-196943987	K562	blood:	n/a	n/a
12	MYC	chr1:196951544-196951612	MCF-7	breast:	n/a	n/a
13	MYC	chr1:196946016-196946040	MCF-7	breast:	n/a	n/a
14	POLR2A	chr1:196949250-196949300	Gliobla	brain:	n/a	n/a
15	POLR2A	chr1:196944102-196944124	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr1:196951508-196951618	MCF-7	breast:	n/a	n/a
17	POLR2A	chr1:196948786-196948834	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr1:196951372-196951463	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr1:196944605-196944990	K562	blood:	n/a	n/a
20	RFX5	chr1:196944271-196944400	K562	blood:	n/a	n/a
21	STAT3	chr1:196952461-196952542	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:196946512-196946562	NB4	blood:	n/a
2	chr1:196945530-196945580	HCPEpiC	choroid plexus:	n/a
3	chr1:196946228-196946278	ProgFib	skin:	n/a
4	chr1:196946512-196946562	HEK293	kidney:	embryo
5	chr1:196945845-196945895	MCF-7	breast:	n/a
6	chr1:196945530-196945580	HRPEpiC	eye:	n/a
7	chr1:196945530-196945580	Hepatocyte	liver:	n/a
8	chr1:196946228-196946278	AoSMC	blood vessel:	n/a
9	chr1:196946512-196946562	SK-N-SH	brain:	n/a
10	chr1:196945530-196945580	K562	blood:	n/a
11	chr1:196946228-196946278	HCM	heart:	n/a
12	chr1:196946228-196946278	NH-A	brain:	n/a
13	chr1:196946228-196946278	NHBE	bronchial:	n/a
14	chr1:196945845-196945895	HEK293	kidney:	embryo
15	chr1:196946512-196946562	K562	blood:	n/a
16	chr1:196945530-196945580	MCF-7	breast:	n/a
17	chr1:196945845-196945895	U87	brain:	n/a
18	chr1:196946512-196946562	SAEC	small airway:	n/a
19	chr1:196945845-196945895	H1-hESC	embryonic stem cell:	embryo
20	chr1:196945845-196945895	NH-A	brain:	n/a
21	chr1:196945530-196945580	HEEpiC	esophagus:	n/a
22	chr1:196945845-196945895	ProgFib	skin:	n/a
23	chr1:196945530-196945580	HRE	kidney:	n/a
24	chr1:196945845-196945895	HPAEpiC	pulmonary alveolar:	n/a
25	chr1:196946228-196946278	HCT-116	colon:	n/a
26	chr1:196945530-196945580	AoSMC	blood vessel:	n/a
27	chr1:196945845-196945895	HRCEpiC	kidney:	n/a
28	chr1:196946228-196946278	NB4	blood:	n/a
29	chr1:196946512-196946562	HCF	heart:	n/a
30	chr1:196946512-196946562	PFSK-1	brain:	n/a
31	chr1:196946228-196946278	HAEpiC	amniotic membrane:	n/a
32	chr1:196945530-196945580	NT2-D1	testis:	n/a
33	chr1:196945845-196945895	AG09319	gingival:	n/a
34	chr1:196945530-196945580	HEK293	kidney:	embryo
35	chr1:196946228-196946278	Hela-S3	cervix:	n/a
36	chr1:196946228-196946278	HRE	kidney:	n/a
37	chr1:196945845-196945895	CMK	blood:	n/a
38	chr1:196946228-196946278	HepG2	liver:	n/a
39	chr1:196945530-196945580	HepG2	liver:	n/a
40	chr1:196945845-196945895	HL-60	blood:	n/a
41	chr1:196946228-196946278	T-47D	breast:	n/a
42	chr1:196945530-196945580	GM06990	blood:	n/a
43	chr1:196945530-196945580	HRCEpiC	kidney:	n/a
44	chr1:196946512-196946562	MCF-7	breast:	n/a
45	chr1:196945845-196945895	AoSMC	blood vessel:	n/a
46	chr1:196945530-196945580	BE2_C	brain:	n/a
47	chr1:196945530-196945580	AG09309	skin:	n/a
48	chr1:196945530-196945580	A549	lung:	n/a
49	chr1:196945530-196945580	SK-N-SH_RA	brain:	n/a
50	chr1:196946228-196946278	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:196948203..196950500-chr1:196952266..196955003,2	K562	blood:
2	chr1:196950312..196952870-chr1:196960936..196962928,2	MCF-7	breast:
3	chr1:196948203..196950500-chr1:196952266..196955003,2	K562	blood:

Variant related genes	Relation type
CFHR5	TF binding region
CFHR5	CpG island

Extended variants
information (count: 438 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185829452	chr1:196943925-196943926	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs148715502	chr1:196943946-196943947	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs533184941	chr1:196944078-196944079	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs142278523	chr1:196944090-196944091	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566611537	chr1:196944111-196944112	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs531433366	chr1:196944118-196944119	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs533643075	chr1:196944133-196944134	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs554954472	chr1:196944148-196944149	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549845085	chr1:196944165-196944166	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566877684	chr1:196944180-196944181	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538169495	chr1:196944196-196944197	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs556406348	chr1:196944235-196944236	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs115429171	chr1:196944237-196944238	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs571249711	chr1:196944252-196944253	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs72468005	chr1:196944286-196944287	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs151262520	chr1:196944316-196944317	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs567937687	chr1:196944331-196944332	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs7539363	chr1:196944339-196944340	Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs140622060	chr1:196944355-196944356	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs10801582	chr1:196944357-196944358	Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs543821341	chr1:196944367-196944368	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs562826178	chr1:196944378-196944379	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs77948462	chr1:196944398-196944399	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs116328097	chr1:196944407-196944408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566509795	chr1:196944500-196944501	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs537122126	chr1:196944599-196944600	Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs527385602	chr1:196944653-196944654	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs548640845	chr1:196944664-196944665	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs34650634	chr1:196944683-196944684	Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537483032	chr1:196944706-196944707	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs75816959	chr1:196944722-196944723	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs191030562	chr1:196944734-196944735	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs368419856	chr1:196944780-196944781	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs556164831	chr1:196944783-196944784	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs74188363	chr1:196944860-196944861	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs375783922	chr1:196944942-196944943	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs572517767	chr1:196944945-196944946	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs536756985	chr1:196944949-196944950	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs555132563	chr1:196944963-196944964	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs576580413	chr1:196944966-196944967	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs543887849	chr1:196944974-196944975	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs565128982	chr1:196944978-196944979	Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs146602083	chr1:196945015-196945016	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs372829573	chr1:196945023-196945024	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181820206	chr1:196945032-196945033	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs6702340	chr1:196945050-196945051	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs186052773	chr1:196945133-196945134	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs190468169	chr1:196945198-196945199	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs141362797	chr1:196945230-196945231	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs531296431	chr1:196945290-196945291	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196943600-196944000	Enhancers	Liver	Liver
2	chr1:196944000-196944400	Flanking Active TSS	Liver	Liver
3	chr1:196944400-196944600	Active TSS	Liver	Liver
4	chr1:196944600-196945600	Flanking Active TSS	Liver	Liver
5	chr1:196945600-196949200	Active TSS	Liver	Liver
6	chr1:196946600-196947000	Enhancers	HepG2	liver
7	chr1:196947600-196948400	Enhancers	Fetal Lung	lung
8	chr1:196949200-196950000	Flanking Active TSS	Liver	Liver
9	chr1:196950000-196950600	Enhancers	Liver	Liver
10	chr1:196950600-196952200	Weak transcription	Liver	Liver
11	chr1:196952200-196955600	Strong transcription	Liver	Liver

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