Variant report

Variant	esv1807810
Chromosome Location	chr17:60328722-60352980
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:579)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:579 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr17:60346434-60346739	GM12878	blood:	n/a	n/a
2	BATF	chr17:60342272-60342635	GM12878	blood:	n/a	n/a
3	BATF	chr17:60346379-60346858	GM12878	blood:	n/a	n/a
4	BATF	chr17:60347026-60347224	GM12878	blood:	n/a	n/a
5	BATF	chr17:60346936-60347141	GM12878	blood:	n/a	n/a
6	BCL11A	chr17:60350711-60350893	GM12878	blood:	n/a	n/a
7	BCL11A	chr17:60341360-60341525	GM12878	blood:	n/a	n/a
8	BCL11A	chr17:60346541-60346767	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:60336039-60336400	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:60342553-60342849	GM12878	blood:	n/a	n/a
11	BHLHE40	chr17:60349418-60349638	HepG2	liver:	n/a	n/a
12	BHLHE40	chr17:60352818-60353029	HepG2	liver:	n/a	n/a
13	BHLHE40	chr17:60342360-60342706	HepG2	liver:	n/a	n/a
14	BHLHE40	chr17:60346485-60346772	HepG2	liver:	n/a	n/a
15	CTCF	chr17:60342360-60342510	HEK293	kidney:	n/a	n/a
16	CTCF	chr17:60342523-60342635	GM12891	blood:	n/a	n/a
17	CTCF	chr17:60342502-60342702	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr17:60342508-60342618	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr17:60342416-60342701	MCF-7	breast:	n/a	n/a
20	CTCF	chr17:60342485-60342678	Gliobla	brain:	n/a	n/a
21	CTCF	chr17:60342527-60342608	GM13977	blood:	n/a	n/a
22	CTCF	chr17:60342510-60342633	GM12878	blood:	n/a	n/a
23	CTCF	chr17:60342409-60342705	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr17:60342400-60342550	A549	lung:	n/a	n/a
25	CTCF	chr17:60342418-60342702	MCF-7	breast:	n/a	n/a
26	CTCF	chr17:60342509-60342635	Medullo	brain:	n/a	n/a
27	CTCF	chr17:60342360-60342510	HepG2	liver:	n/a	n/a
28	CTCF	chr17:60342501-60342670	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr17:60335944-60335991	Lung_OC	lung:	n/a	n/a
30	CTCF	chr17:60342314-60342729	K562	blood:	n/a	n/a
31	CTCF	chr17:60342400-60342550	HCT-116	colon:	n/a	n/a
32	CTCF	chr17:60342253-60342803	A549	lung:	n/a	n/a
33	CTCF	chr17:60342529-60342660	K562	blood:	n/a	n/a
34	CTCF	chr17:60342471-60342669	A549	lung:	n/a	n/a
35	CTCF	chr17:60342450-60342705	LNCaP	prostate:	n/a	n/a
36	CTCF	chr17:60342360-60342510	HCT-116	colon:	n/a	n/a
37	CTCF	chr17:60342408-60342697	MCF-7	breast:	n/a	n/a
38	CTCF	chr17:60342530-60342553	GM10266	blood:	n/a	n/a
39	CTCF	chr17:60342517-60342634	GM19240	blood:	n/a	n/a
40	CTCF	chr17:60342420-60342570	RPTEC	kidney:	n/a	n/a
41	CTCF	chr17:60342553-60342618	Lung_OC	lung:	n/a	n/a
42	CTCF	chr17:60342528-60342640	GM19238	blood:	n/a	n/a
43	CTCF	chr17:60342558-60342621	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr17:60342540-60342625	GM19239	blood:	n/a	n/a
45	CTCF	chr17:60342513-60342654	GM12892	blood:	n/a	n/a
46	CTCF	chr17:60342340-60342490	HEK293	kidney:	n/a	n/a
47	CTCF	chr17:60342290-60342820	A549	lung:	n/a	n/a
48	CTCF	chr17:60342511-60342652	Fibrobl	skin:	n/a	n/a
49	CTCF	chr17:60342506-60342510	NHEK	skin:	n/a	n/a
50	CTCF	chr17:60341931-60343023	A549	lung:	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	chr17:60349339-60349389	GM12878	blood:	n/a
2	chr17:60349339-60349389	GM12878	blood:	n/a
3	chr17:60342517-60342567	HL-60	blood:	n/a
4	chr17:60342517-60342567	GM12878	blood:	n/a
5	chr17:60349339-60349389	SK-N-SH_RA	brain:	n/a
6	chr17:60342517-60342567	AG09309	skin:	n/a
7	chr17:60348211-60348261	SK-N-MC	brain:	n/a
8	chr17:60348211-60348261	BE2_C	brain:	n/a
9	chr17:60349339-60349389	RPTEC	kidney:	n/a
10	chr17:60349109-60349159	Hepatocyte	liver:	n/a
11	chr17:60349109-60349159	K562	blood:	n/a
12	chr17:60348211-60348261	HRPEpiC	eye:	n/a
13	chr17:60349339-60349389	HEEpiC	esophagus:	n/a
14	chr17:60347626-60347676	Caco-2	colon:	n/a
15	chr17:60342517-60342567	AG09319	gingival:	n/a
16	chr17:60349109-60349159	HIPEpiC	eye:	n/a
17	chr17:60342517-60342567	NHDF-neo	bronchial:	n/a
18	chr17:60349339-60349389	H1-hESC	embryonic stem cell:	embryo
19	chr17:60342517-60342567	HCT-116	colon:	n/a
20	chr17:60349109-60349159	PrEC	prostate:	n/a
21	chr17:60347626-60347676	NT2-D1	testis:	n/a
22	chr17:60347626-60347676	HPAEpiC	pulmonary alveolar:	n/a
23	chr17:60342517-60342567	AG10803	skin:	n/a
24	chr17:60349109-60349159	SK-N-MC	brain:	n/a
25	chr17:60349339-60349389	GM12891	blood:	n/a
26	chr17:60347626-60347676	SAEC	small airway:	n/a
27	chr17:60348211-60348261	CMK	blood:	n/a
28	chr17:60348211-60348261	AG10803	skin:	n/a
29	chr17:60348211-60348261	HRE	kidney:	n/a
30	chr17:60349109-60349159	Hela-S3	cervix:	n/a
31	chr17:60342517-60342567	ProgFib	skin:	n/a
32	chr17:60349339-60349389	SK-N-MC	brain:	n/a
33	chr17:60349109-60349159	HMEC	breast:	n/a
34	chr17:60347626-60347676	HIPEpiC	eye:	n/a
35	chr17:60348211-60348261	AoSMC	blood vessel:	n/a
36	chr17:60349339-60349389	AG04449	skin:	fetal
37	chr17:60348211-60348261	A549	lung:	n/a
38	chr17:60347626-60347676	HRPEpiC	eye:	n/a
39	chr17:60349339-60349389	BE2_C	brain:	n/a
40	chr17:60348211-60348261	HCF	heart:	n/a
41	chr17:60347626-60347676	SK-N-MC	brain:	n/a
42	chr17:60349109-60349159	HRCEpiC	kidney:	n/a
43	chr17:60347626-60347676	A549	lung:	n/a
44	chr17:60347626-60347676	PANC-1	pancreas:	n/a
45	chr17:60349109-60349159	ProgFib	skin:	n/a
46	chr17:60348211-60348261	HEEpiC	esophagus:	n/a
47	chr17:60349109-60349159	AG09319	gingival:	n/a
48	chr17:60349339-60349389	NHBE	bronchial:	n/a
49	chr17:60349339-60349389	PFSK-1	brain:	n/a
50	chr17:60342517-60342567	PrEC	prostate:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EFCAB3-5	chr17:60337995-60338134	NONHSAT055148
2	lnc-EFCAB3-5	chr17:60339222-60339297	NONHSAT055148

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: 211 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:211 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545616202	chr17:60333180-60333181	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs138775239	chr17:60333187-60333188	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs528866754	chr17:60333188-60333189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201289155	chr17:60333191-60333192	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs575940209	chr17:60333192-60333193	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149391997	chr17:60333195-60333196	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144792586	chr17:60333229-60333230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs199577208	chr17:60333232-60333233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs530133044	chr17:60333266-60333267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs555105943	chr17:60333311-60333312	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs576467649	chr17:60333323-60333324	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs543831417	chr17:60333338-60333339	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs560665466	chr17:60333346-60333347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs185916089	chr17:60333382-60333383	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs6504094	chr17:60333385-60333386	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs200221405	chr17:60333889-60333890	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs574865265	chr17:60333896-60333897	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs540667426	chr17:60333903-60333904	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs189984397	chr17:60333940-60333941	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs117361313	chr17:60333960-60333961	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545986837	chr17:60333969-60333970	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs182599896	chr17:60333984-60333985	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs8082085	chr17:60334091-60334092	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs530638072	chr17:60334298-60334299	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs562624877	chr17:60334349-60334350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs143631473	chr17:60334416-60334417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs567255066	chr17:60334444-60334445	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs2942255	chr17:60334499-60334500	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs185789881	chr17:60334563-60334564	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201729010	chr17:60335117-60335118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs4383212	chr17:60335190-60335191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs4349213	chr17:60335236-60335237	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs546569153	chr17:60335262-60335263	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs375306102	chr17:60335266-60335267	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs560128500	chr17:60335269-60335270	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs141959322	chr17:60335283-60335284	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs569420268	chr17:60335294-60335295	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs552270380	chr17:60335326-60335327	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs568937970	chr17:60335349-60335350	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs367561990	chr17:60335364-60335365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs538448909	chr17:60335377-60335378	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs371739006	chr17:60335382-60335383	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs548751476	chr17:60335411-60335412	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs530559961	chr17:60335421-60335422	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs184173938	chr17:60335431-60335432	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs534547286	chr17:60335436-60335437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs554150880	chr17:60335439-60335440	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs368529987	chr17:60335942-60335943	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs71357019	chr17:60335967-60335968	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs200805740	chr17:60335991-60335992	Inactive region	TF binding 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
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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