Variant report

Variant	esv3449231
Chromosome Location	chr17:60421272-60448431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:60435377-60435476	GM13976	blood:	n/a	n/a
2	CTCF	chr17:60424035-60424052	GM10248	blood:	n/a	n/a
3	CTCF	chr17:60434546-60434622	Lung_OC	lung:	n/a	n/a
4	CTCF	chr17:60424018-60424030	GM10248	blood:	n/a	n/a
5	CTCF	chr17:60426418-60426470	Lung_OC	lung:	n/a	n/a
6	EP300	chr17:60447178-60447195	K562	blood:	n/a	n/a
7	FOXA2	chr17:60435021-60435156	HepG2	liver:	n/a	n/a
8	JUN	chr17:60443615-60443841	HepG2	liver:	n/a	chr17:60443743-60443756
9	JUND	chr17:60443567-60443922	HepG2	liver:	n/a	n/a
10	POLR2A	chr17:60434625-60434725	MCF-7	breast:	n/a	n/a
11	POLR2A	chr17:60436591-60436736	K562	blood:	n/a	n/a
12	POLR2A	chr17:60434734-60434741	MCF-7	breast:	n/a	n/a
13	POLR2A	chr17:60438919-60439119	K562	blood:	n/a	n/a
14	POLR2A	chr17:60434747-60434753	MCF-7	breast:	n/a	n/a
15	SP1	chr17:60434947-60435261	HepG2	liver:	n/a	n/a
16	ZBTB33	chr17:60435046-60435277	HepG2	liver:	n/a	n/a
17	ZNF143	chr17:60443402-60443409	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:60447682-60447732	U87	brain:	n/a
2	chr17:60447682-60447732	IMR90	lung:	fetal
3	chr17:60447682-60447732	BJ	skin:	n/a
4	chr17:60447682-60447732	Caco-2	colon:	n/a
5	chr17:60447682-60447732	HNPCEpiC	eye:	n/a
6	chr17:60447682-60447732	ProgFib	skin:	n/a
7	chr17:60447682-60447732	PFSK-1	brain:	n/a
8	chr17:60447682-60447732	HAEpiC	amniotic membrane:	n/a
9	chr17:60447682-60447732	NT2-D1	testis:	n/a
10	chr17:60447682-60447732	HUVEC	blood vessel:	n/a
11	chr17:60447682-60447732	T-47D	breast:	n/a
12	chr17:60447682-60447732	SAEC	small airway:	n/a
13	chr17:60447682-60447732	AG09309	skin:	n/a
14	chr17:60447682-60447732	LNCaP	prostate:	n/a
15	chr17:60447682-60447732	A549	lung:	n/a
16	chr17:60447682-60447732	HRE	kidney:	n/a
17	chr17:60447682-60447732	HCT-116	colon:	n/a
18	chr17:60447682-60447732	HCPEpiC	choroid plexus:	n/a
19	chr17:60447682-60447732	MCF10A-Er-Src	breast:	n/a
20	chr17:60447682-60447732	RPTEC	kidney:	n/a
21	chr17:60447682-60447732	NB4	blood:	n/a
22	chr17:60447682-60447732	GM19239	blood:	n/a
23	chr17:60447682-60447732	AG04449	skin:	fetal
24	chr17:60447682-60447732	Jurkat	blood:	n/a
25	chr17:60447682-60447732	AG09319	gingival:	n/a
26	chr17:60447682-60447732	GM12891	blood:	n/a
27	chr17:60447682-60447732	BE2_C	brain:	n/a
28	chr17:60447682-60447732	K562	blood:	n/a
29	chr17:60447682-60447732	Hepatocyte	liver:	n/a
30	chr17:60447682-60447732	HMEC	breast:	n/a
31	chr17:60447682-60447732	ovcar-3	ovarian:	n/a
32	chr17:60447682-60447732	AG04450	lung:	fetal
33	chr17:60447682-60447732	CMK	blood:	n/a
34	chr17:60447682-60447732	NHBE	bronchial:	n/a
35	chr17:60447682-60447732	AG10803	skin:	n/a
36	chr17:60447682-60447732	HIPEpiC	eye:	n/a
37	chr17:60447682-60447732	HEEpiC	esophagus:	n/a
38	chr17:60447682-60447732	PANC-1	pancreas:	n/a
39	chr17:60447682-60447732	NH-A	brain:	n/a
40	chr17:60447682-60447732	H1-hESC	embryonic stem cell:	embryo
41	chr17:60447682-60447732	HCF	heart:	n/a
42	chr17:60447682-60447732	HRPEpiC	eye:	n/a
43	chr17:60447682-60447732	MCF-7	breast:	n/a
44	chr17:60447682-60447732	HPAEpiC	pulmonary alveolar:	n/a
45	chr17:60447682-60447732	AoSMC	blood vessel:	n/a
46	chr17:60447682-60447732	Hela-S3	cervix:	n/a
47	chr17:60447682-60447732	SK-N-MC	brain:	n/a
48	chr17:60447682-60447732	SK-N-SH_RA	brain:	n/a
49	chr17:60447682-60447732	HL-60	blood:	n/a
50	chr17:60447682-60447732	SKMC	muscle:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60434774..60436701-chr17:60442498..60445434,2	K562	blood:
2	chr17:60434774..60436701-chr17:60442498..60445434,2	K562	blood:
3	chr17:60441571..60445666-chr17:60460958..60463527,3	MCF-7	breast:
4	chr17:60445165..60447055-chr17:60455052..60457949,2	K562	blood:
5	chr17:60414589..60417517-chr17:60420559..60422547,2	K562	blood:
6	chr17:60445717..60447471-chr17:60465899..60467791,2	MCF-7	breast:
7	chr17:60447670..60450051-chr17:60455728..60457295,2	MCF-7	breast:
8	chr17:60421307..60423372-chr17:60428567..60430379,2	K562	blood:
9	chr17:60444116..60447469-chr17:60452945..60456072,3	MCF-7	breast:
10	chr17:60432068..60434312-chr17:60444916..60447644,2	MCF-7	breast:
11	chr17:60429751..60432202-chr17:60447188..60450154,2	MCF-7	breast:
12	chr17:60421652..60423800-chr17:60428152..60430021,2	MCF-7	breast:
13	chr17:60421307..60423372-chr17:60428567..60430379,2	K562	blood:
14	chr17:60421652..60423800-chr17:60428152..60430021,2	MCF-7	breast:

No data

Variant related genes	Relation type
EFCAB3	TF binding region
EFCAB3	CpG island
ENSG00000172421	chromatin interactions

Extended variants
information (count: 276 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:276 , 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	rs184039482	chr17:60421425-60421426	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs116581376	chr17:60421485-60421486	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs376430940	chr17:60421487-60421488	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs976029	chr17:60421528-60421529	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs547190267	chr17:60421553-60421554	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs564139785	chr17:60421564-60421565	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs78740848	chr17:60421628-60421629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533566798	chr17:60421655-60421656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550360534	chr17:60421661-60421662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77690522	chr17:60421704-60421705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527891216	chr17:60421717-60421718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549595435	chr17:60421720-60421721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77830385	chr17:60421794-60421795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs188823044	chr17:60421857-60421858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181562218	chr17:60421867-60421868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79957773	chr17:60421872-60421873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557851700	chr17:60421905-60421906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9889346	chr17:60421914-60421915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371249137	chr17:60421933-60421934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186095346	chr17:60421959-60421960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs954561	chr17:60429776-60429777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs185407967	chr17:60429824-60429825	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111572691	chr17:60429844-60429845	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs533366132	chr17:60429871-60429872	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs954560	chr17:60429907-60429908	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
26	rs563724753	chr17:60429935-60429936	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529641432	chr17:60429975-60429976	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs549390299	chr17:60430013-60430014	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs558699441	chr17:60430062-60430063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75191017	chr17:60430063-60430064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs577025412	chr17:60430086-60430087	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377266675	chr17:60430093-60430094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551483760	chr17:60430098-60430099	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs954562	chr17:60430128-60430129	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
35	rs56344250	chr17:60430148-60430149	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs114305162	chr17:60430151-60430152	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574498177	chr17:60430234-60430235	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs569727399	chr17:60430282-60430283	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs117768667	chr17:60430285-60430286	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs57586755	chr17:60430346-60430347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs572090722	chr17:60430366-60430367	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369581596	chr17:60430376-60430377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574582625	chr17:60430419-60430420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540981931	chr17:60430465-60430466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs557898063	chr17:60430470-60430471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs58795203	chr17:60430496-60430497	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs57191842	chr17:60430515-60430516	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116674270	chr17:60430538-60430539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs370277147	chr17:60430584-60430585	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529450954	chr17:60430591-60430592	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60421400-60421600	Bivalent Enhancer	HSMMtube	muscle
2	chr17:60421400-60422000	Enhancers	Fetal Intestine Small	intestine
3	chr17:60421600-60422000	Enhancers	Fetal Intestine Large	intestine
4	chr17:60429800-60430000	Bivalent Enhancer	A549	lung

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