Variant report

Variant	nsv946471
Chromosome Location	chr1:161652825-161660573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:306)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:161655349-161655505	K562	blood:	n/a	n/a
2	CEBPB	chr1:161656087-161656256	K562	blood:	n/a	n/a
3	CTCF	chr1:161659460-161659610	GM12872	blood:	n/a	n/a
4	CUX1	chr1:161658503-161658757	K562	blood:	n/a	n/a
5	GATA1	chr1:161658675-161659191	PBDE	blood:	n/a	n/a
6	POLR2A	chr1:161659440-161659512	Gliobla	brain:	n/a	n/a
7	POLR2A	chr1:161659615-161659634	Gliobla	brain:	n/a	n/a
8	POLR2A	chr1:161659422-161659427	Gliobla	brain:	n/a	n/a
9	SPI1	chr1:161658311-161658454	K562	blood:	n/a	n/a
10	ZNF384	chr1:161658827-161659093	K562	blood:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:161654727-161654777	K562	blood:	n/a
2	chr1:161654727-161654777	K562	blood:	n/a
3	chr1:161655029-161655079	HCF	heart:	n/a
4	chr1:161655124-161655174	HMEC	breast:	n/a
5	chr1:161655895-161655945	T-47D	breast:	n/a
6	chr1:161655056-161655106	Hela-S3	cervix:	n/a
7	chr1:161655895-161655945	U87	brain:	n/a
8	chr1:161655124-161655174	ovcar-3	ovarian:	n/a
9	chr1:161655124-161655174	SK-N-SH_RA	brain:	n/a
10	chr1:161655124-161655174	RPTEC	kidney:	n/a
11	chr1:161655029-161655079	ProgFib	skin:	n/a
12	chr1:161655895-161655945	PANC-1	pancreas:	n/a
13	chr1:161654727-161654777	HUVEC	blood vessel:	n/a
14	chr1:161655124-161655174	K562	blood:	n/a
15	chr1:161655056-161655106	HNPCEpiC	eye:	n/a
16	chr1:161654727-161654777	GM12892	blood:	n/a
17	chr1:161655029-161655079	NHDF-neo	bronchial:	n/a
18	chr1:161655056-161655106	AG09309	skin:	n/a
19	chr1:161655124-161655174	H1-hESC	embryonic stem cell:	embryo
20	chr1:161654727-161654777	HRPEpiC	eye:	n/a
21	chr1:161655895-161655945	NB4	blood:	n/a
22	chr1:161655029-161655079	K562	blood:	n/a
23	chr1:161655056-161655106	AoSMC	blood vessel:	n/a
24	chr1:161655029-161655079	HCPEpiC	choroid plexus:	n/a
25	chr1:161655895-161655945	BJ	skin:	n/a
26	chr1:161655124-161655174	BE2_C	brain:	n/a
27	chr1:161655029-161655079	GM12892	blood:	n/a
28	chr1:161654727-161654777	Hela-S3	cervix:	n/a
29	chr1:161654727-161654777	SK-N-MC	brain:	n/a
30	chr1:161655895-161655945	HCPEpiC	choroid plexus:	n/a
31	chr1:161654727-161654777	HepG2	liver:	n/a
32	chr1:161655056-161655106	HIPEpiC	eye:	n/a
33	chr1:161655895-161655945	SK-N-SH_RA	brain:	n/a
34	chr1:161655029-161655079	HRE	kidney:	n/a
35	chr1:161655029-161655079	PANC-1	pancreas:	n/a
36	chr1:161655895-161655945	HRCEpiC	kidney:	n/a
37	chr1:161655124-161655174	GM12891	blood:	n/a
38	chr1:161655124-161655174	NB4	blood:	n/a
39	chr1:161655124-161655174	T-47D	breast:	n/a
40	chr1:161655124-161655174	AG04450	lung:	fetal
41	chr1:161655124-161655174	HCT-116	colon:	n/a
42	chr1:161655029-161655079	NT2-D1	testis:	n/a
43	chr1:161655124-161655174	SAEC	small airway:	n/a
44	chr1:161655029-161655079	CMK	blood:	n/a
45	chr1:161655029-161655079	T-47D	breast:	n/a
46	chr1:161655124-161655174	HEK293	kidney:	embryo
47	chr1:161655056-161655106	Jurkat	blood:	n/a
48	chr1:161655895-161655945	PFSK-1	brain:	n/a
49	chr1:161655029-161655079	NB4	blood:	n/a
50	chr1:161654727-161654777	AG09319	gingival:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161646369..161648546-chr1:161652642..161654817,3	MCF-7	breast:
2	chr1:161652989..161655600-chr1:161660399..161662387,2	K562	blood:
3	chr1:161652344..161653912-chr1:161654635..161656635,2	K562	blood:
4	chr1:161651228..161654448-chr1:161657471..161660197,3	K562	blood:
5	chr1:161657417..161659539-chr1:161696325..161698709,3	K562	blood:
6	chr1:161651228..161654448-chr1:161657471..161660197,3	K562	blood:
7	chr1:161651291..161653505-chr1:161696476..161699114,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FCGR3B-6	chr1:161653495-161655042	NR_002595

No data

Variant related genes	Relation type
RPL31P11	TF binding region
RPL31P11	CpG island
ENSG00000213075	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565853693	chr1:161652827-161652828	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs188921586	chr1:161652851-161652852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551805142	chr1:161652885-161652886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199910769	chr1:161652923-161652924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs111635199	chr1:161652927-161652928	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs56200113	chr1:161652928-161652929	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs537407050	chr1:161652979-161652980	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs147843112	chr1:161653054-161653055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567985540	chr1:161653058-161653059	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114277155	chr1:161653069-161653070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs553329956	chr1:161653102-161653103	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs141350127	chr1:161653115-161653116	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs145184661	chr1:161653199-161653200	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557796774	chr1:161653227-161653228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs560996330	chr1:161653228-161653229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577237651	chr1:161653267-161653268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542987012	chr1:161653287-161653288	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572246520	chr1:161653322-161653323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs115282533	chr1:161653328-161653329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529185639	chr1:161653353-161653354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs16844407	chr1:161653360-161653361	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs544581027	chr1:161653362-161653363	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs193233669	chr1:161653373-161653374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs17404705	chr1:161653380-161653381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs144998538	chr1:161653388-161653389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183802735	chr1:161653405-161653406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201044008	chr1:161653484-161653485	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs397707528	chr1:161653496-161653497	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs201610439	chr1:161653497-161653498	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs530108735	chr1:161653499-161653500	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs551025715	chr1:161653535-161653536	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs567653868	chr1:161653537-161653538	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs114384494	chr1:161653554-161653555	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs186630490	chr1:161653603-161653604	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs566963481	chr1:161653611-161653612	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs12564670	chr1:161653703-161653704	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs11801845	chr1:161653708-161653709	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs61804205	chr1:161653737-161653738	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs543097634	chr1:161653777-161653778	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs571502811	chr1:161653786-161653787	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs556581088	chr1:161653799-161653800	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs143701209	chr1:161653825-161653826	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs542566752	chr1:161653837-161653838	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs550521606	chr1:161653851-161653852	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs559562949	chr1:161653896-161653897	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs572974956	chr1:161653911-161653912	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs545215570	chr1:161653926-161653927	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs191088542	chr1:161653945-161653946	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs369802631	chr1:161653958-161653959	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs567383739	chr1:161653968-161653969	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Liposarcoma	21253554	CNVD
Non-small cell lung cancer	21385341	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ewing''s sarcoma	21437220	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
Retinoblastoma	19183342	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21611746	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	18923191	CNVD
Systemic lupus erythematosus	19220326	CNVD
Systemic lupus erythematosus	19287148	CNVD
Glomerulonephritis	19341492	CNVD
Systemic lupus erythematosus	18559452	CNVD
Systemic autoimmune disease	17597778	CNVD
Glomerulonephritis	17008540	CNVD
Glomerulonephritis	16482158	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Breast cancer	21045282	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Follicular lymphoma	18703704	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Idiopathic thrombocytopenic purpura	17827395	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161648600-161658400	Weak transcription	GM12878-XiMat	blood
2	chr1:161648600-161661000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:161649000-161658800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr1:161654800-161655000	Active TSS	Pancreas	Pancrea
5	chr1:161658400-161658600	Enhancers	K562	blood
6	chr1:161658400-161659000	Enhancers	GM12878-XiMat	blood
7	chr1:161658600-161659200	Flanking Active TSS	K562	blood
8	chr1:161658800-161659000	Enhancers	Primary B cells from peripheral blood	blood
9	chr1:161659200-161659400	Enhancers	K562	blood
10	chr1:161659400-161662600	Weak transcription	K562	blood

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