Variant report

Variant	nsv962239
Chromosome Location	chr17:60377053-60392201
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	CEBPB	chr17:60383745-60383860	HepG2	liver:	n/a	chr17:60383834-60383847 chr17:60383836-60383847 chr17:60383834-60383845
2	E2F4	chr17:60385105-60385265	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr17:60381120-60381369	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr17:60386960-60387033	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr17:60388506-60388698	MCF10A-Er-Src	breast:	n/a	n/a
6	FOXA1	chr17:60384568-60385030	HepG2	liver:	n/a	chr17:60384762-60384777
7	FOXA1	chr17:60384647-60384882	HepG2	liver:	n/a	chr17:60384762-60384777
8	FOXA1	chr17:60384514-60384926	HepG2	liver:	n/a	chr17:60384762-60384777
9	FOXA1	chr17:60384642-60384974	HepG2	liver:	n/a	chr17:60384762-60384777
10	FOXA2	chr17:60384674-60384859	HepG2	liver:	n/a	n/a
11	FOXA2	chr17:60384595-60385077	A549	lung:	n/a	n/a
12	GATA3	chr17:60384535-60385062	MCF-7	breast:	n/a	n/a
13	KAP1	chr17:60384608-60385164	HEK293	kidney:	n/a	n/a
14	KAP1	chr17:60384640-60384918	U2OS	brain:	n/a	n/a
15	MAFK	chr17:60380938-60381157	HepG2	liver:	n/a	n/a
16	MAFK	chr17:60380917-60381128	HepG2	liver:	n/a	n/a
17	MYC	chr17:60386887-60387088	MCF10A-Er-Src	breast:	n/a	n/a
18	NFYA	chr17:60386742-60386929	GM12878	blood:	n/a	n/a
19	NR2F2	chr17:60384430-60384967	MCF-7	breast:	n/a	n/a
20	POLR2A	chr17:60381244-60381425	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr17:60385084-60385415	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr17:60378073-60378139	ProgFib	skin:	n/a	n/a
23	POLR2A	chr17:60385036-60385441	H1-neurons	neurons:	n/a	n/a
24	REST	chr17:60385034-60385395	H1-neurons	neurons:	n/a	n/a
25	STAT3	chr17:60386913-60386936	MCF10A-Er-Src	breast:	n/a	n/a
26	STAT3	chr17:60377680-60377869	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr17:60386552-60386628	MCF10A-Er-Src	breast:	n/a	n/a
28	STAT3	chr17:60386947-60387064	MCF10A-Er-Src	breast:	n/a	chr17:60387044-60387055
29	STAT3	chr17:60387091-60387111	MCF10A-Er-Src	breast:	n/a	n/a
30	TCF7L2	chr17:60384543-60384896	HEK293	kidney:	n/a	n/a
31	ZNF263	chr17:60387225-60387466	HEK293-T-REx	kidney:	n/a	chr17:60387380-60387401

No.	Distal block	Cell Line	Cell type
1	chr10:102756121..102758163-chr17:60389261..60390875,2	MCF-7	breast:
2	chr17:60376068..60377977-chr17:60387444..60389081,2	MCF-7	breast:
3	chr17:60378073..60380516-chr17:60388051..60389639,2	MCF-7	breast:
4	chr17:60387371..60389325-chr17:60391804..60394700,2	MCF-7	breast:
5	chr17:60378073..60380516-chr17:60388051..60389639,2	MCF-7	breast:
6	chr17:60387132..60388706-chr17:60393027..60395897,2	K562	blood:
7	chr17:60376068..60377977-chr17:60387444..60389081,2	MCF-7	breast:
8	chr17:60387371..60389325-chr17:60391804..60394700,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC053481.1-2	chr17:60384813-60385182	ncRnaDb_ncrna_FR286847_1

Variant related genes	Relation type
ENSG00000263887	TF binding region
ENSG00000107816	chromatin interactions

Extended variants
information (count: 165 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:165 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528090505	chr17:60377856-60377857	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs374116063	chr17:60378075-60378076	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs566038284	chr17:60378090-60378091	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs75870878	chr17:60378094-60378095	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs186406719	chr17:60378099-60378100	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529256080	chr17:60384843-60384844	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs541633986	chr17:60384866-60384867	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs564490350	chr17:60384867-60384868	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs533690733	chr17:60384875-60384876	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs550251394	chr17:60384907-60384908	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs570352038	chr17:60384910-60384911	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs529338240	chr17:60384953-60384954	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs73329403	chr17:60384968-60384969	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs113375800	chr17:60384997-60384998	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs200872451	chr17:60384998-60384999	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs10642716	chr17:60385006-60385007	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs10642717	chr17:60385007-60385008	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs10682823	chr17:60385029-60385030	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs375855811	chr17:60385031-60385032	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs566199490	chr17:60385072-60385073	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs185874147	chr17:60385075-60385076	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs550738189	chr17:60385090-60385091	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs28716486	chr17:60385092-60385093	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs374753855	chr17:60385123-60385124	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs570506420	chr17:60385133-60385134	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs539617128	chr17:60385141-60385142	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs556079051	chr17:60385159-60385160	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs575916852	chr17:60385203-60385204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116767748	chr17:60385262-60385263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73992015	chr17:60385293-60385294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs139826833	chr17:60385312-60385313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs8080209	chr17:60385358-60385359	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs564708715	chr17:60385362-60385363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs578137464	chr17:60385396-60385397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75800343	chr17:60385419-60385420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370698832	chr17:60385496-60385497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs36008948	chr17:60385583-60385584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563996892	chr17:60385591-60385592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574329967	chr17:60386613-60386614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544989132	chr17:60386628-60386629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542685590	chr17:60386647-60386648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs193092343	chr17:60386673-60386674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553424725	chr17:60386686-60386687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573461196	chr17:60386692-60386693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368896067	chr17:60386801-60386802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184159250	chr17:60386803-60386804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146320326	chr17:60386822-60386823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187543034	chr17:60386847-60386848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62069149	chr17:60386860-60386861	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79510651	chr17:60386876-60386877	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60384800-60385600	Enhancers	Fetal Intestine Small	intestine
2	chr17:60385000-60385200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr17:60385000-60385400	Enhancers	Fetal Intestine Large	intestine
4	chr17:60385000-60385400	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr17:60386600-60387200	Enhancers	NHEK	skin
6	chr17:60387200-60387600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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