Variant report

Variant	nsv946501
Chromosome Location	chr1:171308582-171310811
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:171308546-171308751	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr1:171308594-171308712	MCF-7	breast:	n/a	n/a
3	CTCF	chr1:171308483-171308854	MCF-7	breast:	n/a	n/a
4	CTCF	chr1:171308640-171308779	K562	blood:	n/a	n/a
5	CTCF	chr1:171308700-171308850	RPTEC	kidney:	n/a	n/a
6	CTCF	chr1:171308578-171308830	A549	lung:	n/a	n/a
7	CTCF	chr1:171308480-171308630	NHEK	skin:	n/a	n/a
8	CTCF	chr1:171308550-171308849	MCF-7	breast:	n/a	n/a
9	CTCF	chr1:171308640-171308755	LNCaP	prostate:	n/a	n/a
10	CTCF	chr1:171308647-171308737	GM12878	blood:	n/a	n/a
11	CTCF	chr1:171308668-171308754	Kidney_OC	kidney:	n/a	n/a
12	CTCF	chr1:171308622-171308775	ProgFib	skin:	n/a	n/a
13	CTCF	chr1:171308656-171308688	Fibrobl	skin:	n/a	n/a
14	CTCF	chr1:171308680-171308830	MCF-7	breast:	n/a	n/a
15	CTCF	chr1:171308554-171308816	MCF-7	breast:	n/a	n/a
16	CTCF	chr1:171308605-171308767	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr1:171308626-171308712	MCF-7	breast:	n/a	n/a
18	CTCF	chr1:171308740-171308890	MCF-7	breast:	n/a	n/a
19	CTCF	chr1:171308643-171308714	NHEK	skin:	n/a	n/a
20	CTCF	chr1:171308585-171308912	A549	lung:	n/a	n/a
21	CTCF	chr1:171308573-171308805	Gliobla	brain:	n/a	n/a
22	CTCF	chr1:171308614-171308792	HepG2	liver:	n/a	n/a
23	CTCF	chr1:171308980-171309130	AG09319	gingival:	n/a	n/a
24	CTCF	chr1:171308595-171308714	MCF-7	breast:	n/a	n/a
25	CTCF	chr1:171308621-171308684	GM13977	blood:	n/a	n/a
26	CTCF	chr1:171308593-171308733	A549	lung:	n/a	n/a
27	CTCF	chr1:171308629-171308768	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr1:171308480-171308630	RPTEC	kidney:	n/a	n/a
29	CTCF	chr1:171308654-171308675	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr1:171308692-171308735	LNCaP	prostate:	n/a	n/a
31	CTCF	chr1:171308720-171308870	A549	lung:	n/a	n/a
32	POLR2A	chr1:171308869-171308881	MCF-7	breast:	n/a	n/a
33	RAD21	chr1:171308494-171308859	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:171309093-171309143	ovcar-3	ovarian:	n/a
2	chr1:171308645-171308695	SAEC	small airway:	n/a
3	chr1:171308645-171308695	HEK293	kidney:	embryo
4	chr1:171309093-171309143	CMK	blood:	n/a
5	chr1:171308645-171308695	GM12891	blood:	n/a
6	chr1:171308645-171308695	AG04450	lung:	fetal
7	chr1:171309093-171309143	SAEC	small airway:	n/a
8	chr1:171309093-171309143	AG09319	gingival:	n/a
9	chr1:171309093-171309143	HCF	heart:	n/a
10	chr1:171308645-171308695	HCM	heart:	n/a
11	chr1:171308645-171308695	HepG2	liver:	n/a
12	chr1:171308645-171308695	GM19239	blood:	n/a
13	chr1:171308645-171308695	Caco-2	colon:	n/a
14	chr1:171308645-171308695	K562	blood:	n/a
15	chr1:171308645-171308695	ovcar-3	ovarian:	n/a
16	chr1:171308645-171308695	MCF-7	breast:	n/a
17	chr1:171309093-171309143	Hela-S3	cervix:	n/a
18	chr1:171309093-171309143	HCT-116	colon:	n/a
19	chr1:171309093-171309143	HRE	kidney:	n/a
20	chr1:171308645-171308695	SKMC	muscle:	n/a
21	chr1:171309093-171309143	HRPEpiC	eye:	n/a
22	chr1:171308645-171308695	ECC-1	luminal epithelium:	n/a
23	chr1:171309093-171309143	MCF10A-Er-Src	breast:	n/a
24	chr1:171309093-171309143	GM12892	blood:	n/a
25	chr1:171309093-171309143	Hepatocyte	liver:	n/a
26	chr1:171308645-171308695	U87	brain:	n/a
27	chr1:171309093-171309143	H1-hESC	embryonic stem cell:	embryo
28	chr1:171309093-171309143	AG09309	skin:	n/a
29	chr1:171309093-171309143	SK-N-SH_RA	brain:	n/a
30	chr1:171309093-171309143	AG10803	skin:	n/a
31	chr1:171308645-171308695	SK-N-SH_RA	brain:	n/a
32	chr1:171309093-171309143	NHDF-neo	bronchial:	n/a
33	chr1:171308645-171308695	NH-A	brain:	n/a
34	chr1:171308645-171308695	Hepatocyte	liver:	n/a
35	chr1:171309093-171309143	AoSMC	blood vessel:	n/a
36	chr1:171309093-171309143	ECC-1	luminal epithelium:	n/a
37	chr1:171308645-171308695	AoSMC	blood vessel:	n/a
38	chr1:171308645-171308695	HRCEpiC	kidney:	n/a
39	chr1:171309093-171309143	T-47D	breast:	n/a
40	chr1:171308645-171308695	AG09309	skin:	n/a
41	chr1:171309093-171309143	ProgFib	skin:	n/a
42	chr1:171308645-171308695	MCF10A-Er-Src	breast:	n/a
43	chr1:171308645-171308695	AG10803	skin:	n/a
44	chr1:171309093-171309143	NB4	blood:	n/a
45	chr1:171309093-171309143	NHBE	bronchial:	n/a
46	chr1:171308645-171308695	PFSK-1	brain:	n/a
47	chr1:171309093-171309143	HEEpiC	esophagus:	n/a
48	chr1:171308645-171308695	A549	lung:	n/a
49	chr1:171309093-171309143	HL-60	blood:	n/a
50	chr1:171308645-171308695	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171308429..171309488-chr1:171373955..171374861,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225704	TF binding region
ENSG00000225704	CpG island

Extended variants
information (count: 77 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571792410	chr1:171308590-171308591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542342406	chr1:171308595-171308596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560542968	chr1:171308627-171308628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs61731205	chr1:171308666-171308667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184305603	chr1:171308766-171308767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs551650246	chr1:171308784-171308785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565141783	chr1:171308789-171308790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2223477	chr1:171308832-171308833	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs547535989	chr1:171308834-171308835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71635698	chr1:171308850-171308851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565773404	chr1:171308867-171308868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs45556934	chr1:171308881-171308882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs45589839	chr1:171308897-171308898	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs530551371	chr1:171308927-171308928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567767389	chr1:171308979-171308980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373762925	chr1:171308988-171308989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs112304338	chr1:171309028-171309029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188751580	chr1:171309049-171309050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs45552638	chr1:171309050-171309051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578169337	chr1:171309077-171309078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12057885	chr1:171309078-171309079	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs554319673	chr1:171309151-171309152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567312436	chr1:171309164-171309165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572350980	chr1:171309182-171309183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542305799	chr1:171309200-171309201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs45447795	chr1:171309222-171309223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs55809312	chr1:171309248-171309249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575736907	chr1:171309282-171309283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532902589	chr1:171309303-171309304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146261362	chr1:171309310-171309311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532423574	chr1:171309389-171309390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs540997332	chr1:171309544-171309545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111790068	chr1:171309547-171309548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553308289	chr1:171309578-171309579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562515231	chr1:171309590-171309591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs529871676	chr1:171309603-171309604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12737633	chr1:171309619-171309620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs567732235	chr1:171309705-171309706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142602653	chr1:171309793-171309794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538851866	chr1:171309796-171309797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550131821	chr1:171309862-171309863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571579363	chr1:171309878-171309879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376448141	chr1:171309888-171309889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539314713	chr1:171309907-171309908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554208185	chr1:171310036-171310037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150988379	chr1:171310195-171310196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372946607	chr1:171310285-171310286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569046127	chr1:171310287-171310288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575373263	chr1:171310288-171310289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75519125	chr1:171310297-171310298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	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
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
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	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
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
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
Neuroblastoma	18923191	CNVD
Soft tissue tumor	16732325	CNVD
Cancer	17060936	CNVD
Lung cancer	16740712	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Williams-beuren syndrome	16971481	CNVD
Developmental delay	21147756	CNVD
Burkitt''s lymphoma	20823134	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	20409316	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171284000-171312200	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:171284200-171313600	Weak transcription	Right Ventricle	heart
3	chr1:171284200-171313800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:171286800-171309200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:171288400-171313000	Weak transcription	Gastric	stomach
6	chr1:171288600-171312400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:171289400-171309600	Weak transcription	Primary B cells from cord blood	blood
8	chr1:171289400-171313400	Weak transcription	Fetal Lung	lung
9	chr1:171289600-171309000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:171289600-171309000	Weak transcription	Pancreas	Pancrea
11	chr1:171289600-171313000	Weak transcription	Adipose Nuclei	Adipose
12	chr1:171289800-171309000	Weak transcription	Spleen	Spleen
13	chr1:171289800-171309200	Weak transcription	Left Ventricle	heart
14	chr1:171289800-171312600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:171289800-171313000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:171290000-171309200	Weak transcription	Ovary	ovary
17	chr1:171299200-171312400	Weak transcription	Fetal Intestine Small	intestine
18	chr1:171299800-171314200	Weak transcription	Aorta	Aorta
19	chr1:171302400-171313200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:171302800-171313000	Weak transcription	Fetal Intestine Large	intestine
21	chr1:171305600-171315200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:171308400-171311600	Weak transcription	Liver	Liver

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