Variant report

Variant	esv14532
Chromosome Location	chr17:60295590-60357269
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:816)
CpG islands
(count:428)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:816 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:60317045-60317325	HepG2	liver:	n/a	n/a
2	ATF3	chr17:60308698-60308927	K562	blood:	n/a	chr17:60308861-60308874
3	BACH1	chr17:60316024-60316224	K562	blood:	n/a	n/a
4	BATF	chr17:60347026-60347224	GM12878	blood:	n/a	n/a
5	BATF	chr17:60342272-60342635	GM12878	blood:	n/a	n/a
6	BATF	chr17:60346379-60346858	GM12878	blood:	n/a	n/a
7	BATF	chr17:60346936-60347141	GM12878	blood:	n/a	n/a
8	BATF	chr17:60346434-60346739	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:60342553-60342849	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:60346541-60346767	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:60336039-60336400	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:60341360-60341525	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:60350711-60350893	GM12878	blood:	n/a	n/a
14	BHLHE40	chr17:60346485-60346772	HepG2	liver:	n/a	n/a
15	BHLHE40	chr17:60352818-60353029	HepG2	liver:	n/a	n/a
16	BHLHE40	chr17:60349418-60349638	HepG2	liver:	n/a	n/a
17	BHLHE40	chr17:60342360-60342706	HepG2	liver:	n/a	n/a
18	CEBPB	chr17:60308837-60308880	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr17:60322469-60322583	A549	lung:	n/a	n/a
20	CEBPB	chr17:60319529-60319789	HepG2	liver:	n/a	n/a
21	CEBPB	chr17:60308642-60309047	K562	blood:	n/a	n/a
22	CEBPB	chr17:60319528-60319728	A549	lung:	n/a	n/a
23	CEBPB	chr17:60296530-60297255	K562	blood:	n/a	chr17:60297052-60297063
24	CEBPB	chr17:60296867-60297185	K562	blood:	n/a	chr17:60297052-60297063
25	CEBPB	chr17:60322504-60322524	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr17:60296580-60296596	A549	lung:	n/a	n/a
27	CEBPB	chr17:60296920-60297195	H1-hESC	embryonic stem cell:	n/a	chr17:60297052-60297063
28	CEBPB	chr17:60308770-60308914	K562	blood:	n/a	n/a
29	CEBPB	chr17:60308847-60308855	A549	lung:	n/a	n/a
30	CEBPB	chr17:60296872-60297240	A549	lung:	n/a	chr17:60297052-60297063
31	CEBPB	chr17:60296871-60297299	A549	lung:	n/a	chr17:60297052-60297063
32	CEBPB	chr17:60296897-60297225	IMR90	lung:	n/a	chr17:60297052-60297063
33	CEBPB	chr17:60322525-60322545	IMR90	lung:	n/a	n/a
34	CEBPB	chr17:60308837-60309029	HepG2	liver:	n/a	n/a
35	CEBPB	chr17:60322405-60322691	K562	blood:	n/a	n/a
36	CEBPB	chr17:60296798-60297295	MCF-7	breast:	n/a	chr17:60297052-60297063
37	CEBPB	chr17:60296991-60297189	Hela-S3	cervix:	n/a	chr17:60297052-60297063
38	CEBPB	chr17:60308828-60309028	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr17:60296883-60297242	HepG2	liver:	n/a	chr17:60297052-60297063
40	CEBPB	chr17:60308671-60309043	K562	blood:	n/a	n/a
41	CEBPB	chr17:60296756-60297220	MCF-7	breast:	n/a	chr17:60297052-60297063
42	CEBPD	chr17:60311319-60311805	K562	blood:	n/a	n/a
43	CEBPD	chr17:60311472-60311807	K562	blood:	n/a	n/a
44	CTCF	chr17:60304020-60304170	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr17:60342360-60342510	HepG2	liver:	n/a	n/a
46	CTCF	chr17:60327314-60327373	Fibrobl	skin:	n/a	n/a
47	CTCF	chr17:60304020-60304170	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr17:60304112-60304200	MCF-7	breast:	n/a	n/a
49	CTCF	chr17:60303971-60304362	K562	blood:	n/a	n/a
50	CTCF	chr17:60303900-60304050	HFF-Myc	foreskin:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:60354306-60354356	SK-N-MC	brain:	n/a
2	chr17:60354306-60354356	SK-N-MC	brain:	n/a
3	chr17:60354306-60354356	BE2_C	brain:	n/a
4	chr17:60349339-60349389	HPAEpiC	pulmonary alveolar:	n/a
5	chr17:60353177-60353227	HUVEC	blood vessel:	n/a
6	chr17:60342517-60342567	HL-60	blood:	n/a
7	chr17:60347626-60347676	HUVEC	blood vessel:	n/a
8	chr17:60349109-60349159	IMR90	lung:	fetal
9	chr17:60348211-60348261	ECC-1	luminal epithelium:	n/a
10	chr17:60354306-60354356	HEK293	kidney:	embryo
11	chr17:60347626-60347676	AoSMC	blood vessel:	n/a
12	chr17:60349339-60349389	ovcar-3	ovarian:	n/a
13	chr17:60342517-60342567	HAEpiC	amniotic membrane:	n/a
14	chr17:60353177-60353227	SAEC	small airway:	n/a
15	chr17:60354306-60354356	SAEC	small airway:	n/a
16	chr17:60353177-60353227	HEEpiC	esophagus:	n/a
17	chr17:60349339-60349389	GM12878	blood:	n/a
18	chr17:60347626-60347676	ProgFib	skin:	n/a
19	chr17:60354306-60354356	GM12892	blood:	n/a
20	chr17:60348211-60348261	SK-N-MC	brain:	n/a
21	chr17:60349339-60349389	HL-60	blood:	n/a
22	chr17:60348211-60348261	Hepatocyte	liver:	n/a
23	chr17:60354306-60354356	K562	blood:	n/a
24	chr17:60349339-60349389	Caco-2	colon:	n/a
25	chr17:60349339-60349389	U87	brain:	n/a
26	chr17:60353177-60353227	ovcar-3	ovarian:	n/a
27	chr17:60349339-60349389	Hepatocyte	liver:	n/a
28	chr17:60353177-60353227	NT2-D1	testis:	n/a
29	chr17:60348211-60348261	HCM	heart:	n/a
30	chr17:60348211-60348261	HAEpiC	amniotic membrane:	n/a
31	chr17:60354306-60354356	HEEpiC	esophagus:	n/a
32	chr17:60354306-60354356	AG09319	gingival:	n/a
33	chr17:60353177-60353227	SK-N-SH_RA	brain:	n/a
34	chr17:60354306-60354356	ProgFib	skin:	n/a
35	chr17:60354306-60354356	AoSMC	blood vessel:	n/a
36	chr17:60349109-60349159	HAEpiC	amniotic membrane:	n/a
37	chr17:60354306-60354356	PrEC	prostate:	n/a
38	chr17:60347626-60347676	GM12891	blood:	n/a
39	chr17:60342517-60342567	K562	blood:	n/a
40	chr17:60342517-60342567	HCPEpiC	choroid plexus:	n/a
41	chr17:60347626-60347676	SK-N-SH_RA	brain:	n/a
42	chr17:60347626-60347676	SAEC	small airway:	n/a
43	chr17:60354306-60354356	HCPEpiC	choroid plexus:	n/a
44	chr17:60342517-60342567	NH-A	brain:	n/a
45	chr17:60347626-60347676	BJ	skin:	n/a
46	chr17:60348211-60348261	H1-hESC	embryonic stem cell:	embryo
47	chr17:60353177-60353227	HIPEpiC	eye:	n/a
48	chr17:60349339-60349389	SK-N-MC	brain:	n/a
49	chr17:60349339-60349389	MCF10A-Er-Src	breast:	n/a
50	chr17:60349339-60349389	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:60186542..60187081-chr17:60304052..60304558,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFCAB3-5	chr17:60339222-60339297	NONHSAT055148
2	lnc-EFCAB3-4	chr17:60353068-60353173	NONHSAT055149
3	lnc-EFCAB3-5	chr17:60337995-60338134	NONHSAT055148
4	lnc-EFCAB3-3	chr17:60354001-60354372	expReg_chr17_10444_+
5	lnc-EFCAB3-4	chr17:60353621-60353920	NONHSAT055149

No data

Variant related genes	Relation type
ENSG00000266647	TF binding region
TBC1D3P2	TF binding region
ENSG00000266365	TF binding region
ENSG00000266647	CpG island
TBC1D3P2	CpG island
ENSG00000266365	CpG island

Extended variants
information (count: 715 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:715 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572926678	chr17:60296619-60296620	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs577431200	chr17:60296651-60296652	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs188829860	chr17:60296663-60296664	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs192544062	chr17:60296728-60296729	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs530808978	chr17:60296736-60296737	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs550641269	chr17:60296754-60296755	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs527965180	chr17:60296776-60296777	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs183622923	chr17:60297058-60297059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148176024	chr17:60297237-60297238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76816809	chr17:60297264-60297265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538148519	chr17:60297311-60297312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554920887	chr17:60297329-60297330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188338179	chr17:60297353-60297354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11657264	chr17:60297393-60297394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140612293	chr17:60310170-60310171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538625888	chr17:60310189-60310190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs530239959	chr17:60310231-60310232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4059229	chr17:60310241-60310242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12451187	chr17:60310261-60310262	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575633319	chr17:60310288-60310289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11658038	chr17:60310335-60310336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs141273998	chr17:60310351-60310352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573841062	chr17:60310412-60310413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190384501	chr17:60310424-60310425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559660318	chr17:60310433-60310434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528417183	chr17:60310443-60310444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544664357	chr17:60310469-60310470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547929076	chr17:60310496-60310497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537925467	chr17:60310504-60310505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564937691	chr17:60310580-60310581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181593039	chr17:60310589-60310590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550211166	chr17:60310608-60310609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71375824	chr17:60310610-60310611	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs530195412	chr17:60310612-60310613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62070759	chr17:60310618-60310619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138109206	chr17:60310628-60310629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539353125	chr17:60310668-60310669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558125942	chr17:60310670-60310671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558670618	chr17:60310681-60310682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149456895	chr17:60310696-60310697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537861310	chr17:60310722-60310723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs555067086	chr17:60310743-60310744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs11658307	chr17:60310792-60310793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs190904718	chr17:60310839-60310840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184239130	chr17:60310866-60310867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553240636	chr17:60310869-60310870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534571486	chr17:60310898-60310899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140361170	chr17:60310900-60310901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187574085	chr17:60310915-60310916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs61193383	chr17:60310921-60310922	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Sensorineural hearing loss	22052739	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
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60296600-60296800	Bivalent Enhancer	HSMMtube	muscle
2	chr17:60297000-60297400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr17:60310000-60312000	Enhancers	K562	blood
4	chr17:60312000-60315600	Weak transcription	K562	blood
5	chr17:60315600-60315800	Enhancers	K562	blood
6	chr17:60315600-60316200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr17:60315600-60316200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:60315800-60316200	Flanking Active TSS	K562	blood
9	chr17:60316000-60317600	Enhancers	HepG2	liver
10	chr17:60316200-60316400	Enhancers	A549	lung
11	chr17:60316200-60317600	Enhancers	K562	blood
12	chr17:60316800-60317600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr17:60317200-60317600	Enhancers	Fetal Lung	lung
14	chr17:60317600-60319400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:60317600-60319400	Weak transcription	K562	blood
16	chr17:60319400-60319800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:60319400-60319800	Enhancers	K562	blood
18	chr17:60319600-60319800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr17:60353000-60353200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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