Variant report

Variant	esv1010378
Chromosome Location	chr19:51401144-51403251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:64)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:64 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr19:51399738-51401225	GM12878	blood:	n/a	n/a
2	CBX3	chr19:51402901-51403221	K562	blood:	n/a	n/a
3	CBX3	chr19:51402777-51403266	K562	blood:	n/a	n/a
4	CEBPB	chr19:51400913-51401149	A549	lung:	n/a	n/a
5	CHD1	chr19:51399763-51401491	GM12878	blood:	n/a	n/a
6	CHD2	chr19:51399758-51401200	GM12878	blood:	n/a	n/a
7	CTCF	chr19:51401020-51401170	GM12865	blood:	n/a	n/a
8	CTCF	chr19:51401060-51401210	GM12867	blood:	n/a	n/a
9	CTCF	chr19:51401060-51401210	HCT-116	colon:	n/a	n/a
10	CTCF	chr19:51400828-51401197	GM12878	blood:	n/a	n/a
11	CTCF	chr19:51400870-51401314	HCT-116	colon:	n/a	n/a
12	CTCF	chr19:51401000-51401150	GM12873	blood:	n/a	n/a
13	CTCF	chr19:51400926-51401271	MCF-7	breast:	n/a	n/a
14	EBF1	chr19:51400437-51401179	GM12878	blood:	n/a	n/a
15	EBF1	chr19:51399732-51401194	GM12878	blood:	n/a	n/a
16	EBF1	chr19:51399721-51401233	GM12878	blood:	n/a	n/a
17	ELF1	chr19:51402865-51403200	K562	blood:	n/a	chr19:51403060-51403073
18	EP300	chr19:51399746-51401224	GM12878	blood:	n/a	chr19:51400074-51400083
19	EP300	chr19:51399719-51401397	GM12878	blood:	n/a	chr19:51400074-51400083
20	FAM48A	chr19:51401955-51402133	GM12878	blood:	n/a	n/a
21	GABPA	chr19:51402796-51403227	HL-60	blood:	n/a	n/a
22	GABPA	chr19:51402984-51403133	HepG2	liver:	n/a	n/a
23	GABPA	chr19:51403000-51403116	HepG2	liver:	n/a	n/a
24	GABPA	chr19:51402856-51403249	MCF-7	breast:	n/a	n/a
25	GABPA	chr19:51402812-51403257	MCF-7	breast:	n/a	n/a
26	GABPA	chr19:51402784-51403248	SK-N-SH	brain:	n/a	n/a
27	GABPA	chr19:51402929-51403172	Hela-S3	cervix:	n/a	n/a
28	GABPA	chr19:51402705-51403209	A549	lung:	n/a	n/a
29	GABPA	chr19:51402837-51403221	Hela-S3	cervix:	n/a	n/a
30	GABPA	chr19:51402712-51403256	HL-60	blood:	n/a	n/a
31	GABPA	chr19:51402791-51402895	Hela-S3	cervix:	n/a	n/a
32	GABPA	chr19:51402665-51403248	A549	lung:	n/a	n/a
33	GABPA	chr19:51402834-51403244	SK-N-SH	brain:	n/a	n/a
34	GABPA	chr19:51402925-51403214	K562	blood:	n/a	n/a
35	HCFC1	chr19:51402890-51403182	K562	blood:	n/a	n/a
36	IKZF1	chr19:51399524-51401263	GM12878	blood:	n/a	n/a
37	JUND	chr19:51399790-51401173	GM12878	blood:	n/a	chr19:51400073-51400083 chr19:51400073-51400083 chr19:51400072-51400084 chr19:51400073-51400083 chr19:51400072-51400083 chr19:51400031-51400040 chr19:51400073-51400082
38	MAFF	chr19:51402334-51402448	K562	blood:	n/a	n/a
39	MAFK	chr19:51402280-51402535	HepG2	liver:	n/a	n/a
40	MAFK	chr19:51402347-51402526	HepG2	liver:	n/a	n/a
41	MAFK	chr19:51403019-51403199	K562	blood:	n/a	n/a
42	MTA3	chr19:51399656-51401174	GM12878	blood:	n/a	n/a
43	NFIC	chr19:51399736-51401276	GM12878	blood:	n/a	n/a
44	NR2C2	chr19:51402816-51403235	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr19:51401226-51401240	GM12878	blood:	n/a	n/a
46	RAD21	chr19:51400947-51401147	Hela-S3	cervix:	n/a	n/a
47	RAD21	chr19:51400904-51401145	GM12878	blood:	n/a	n/a
48	RAD21	chr19:51400834-51401244	MCF-7	breast:	n/a	n/a
49	RAD21	chr19:51400829-51401355	HCT-116	colon:	n/a	n/a
50	RCOR1	chr19:51401337-51401670	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51306246..51308382-chr19:51400037..51401731,2	K562	blood:
2	chr19:51297092..51299196-chr19:51400128..51402648,2	K562	blood:
3	chr19:51398902..51402347-chr19:51410482..51413710,3	K562	blood:
4	chr19:51398615..51401717-chr19:51409067..51411982,3	K562	blood:
5	chr19:51402463..51404550-chr19:51522904..51525156,2	MCF-7	breast:
6	chr19:51391887..51394090-chr19:51400649..51402810,2	MCF-7	breast:
7	chr19:51305899..51307746-chr19:51399929..51401731,2	K562	blood:

No data

Variant related genes	Relation type
KLKP1	TF binding region
ENSG00000167747	chromatin interactions
ENSG00000129451	chromatin interactions
ENSG00000197588	chromatin interactions
ENSG00000167749	chromatin interactions

Extended variants
information (count: 83 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374488405	chr19:51401202-51401203	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs537386122	chr19:51401204-51401205	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs142463956	chr19:51401290-51401291	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs200932982	chr19:51401301-51401302	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs374047430	chr19:51401383-51401384	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs573829442	chr19:51401392-51401393	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs10409668	chr19:51401401-51401402	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs552994055	chr19:51401467-51401468	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs577320004	chr19:51401470-51401471	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567187912	chr19:51401506-51401507	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs183457454	chr19:51401517-51401518	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs150896065	chr19:51401528-51401529	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs574343756	chr19:51401561-51401562	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs575514576	chr19:51401564-51401565	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs543055689	chr19:51401608-51401609	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs188115696	chr19:51401617-51401618	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs372064161	chr19:51401641-51401642	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs7250437	chr19:51401656-51401657	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs139718345	chr19:51401676-51401677	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs532670463	chr19:51401692-51401693	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs375995287	chr19:51401739-51401740	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs115887456	chr19:51401744-51401745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569303003	chr19:51401776-51401777	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs8104538	chr19:51401797-51401798	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs3875143	chr19:51401807-51401808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs567460263	chr19:51401809-51401810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs534766123	chr19:51401865-51401866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs76732076	chr19:51401927-51401928	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs529193085	chr19:51401955-51401956	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs116777269	chr19:51401960-51401961	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs547263579	chr19:51401968-51401969	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs556073805	chr19:51401988-51401989	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs559152073	chr19:51401989-51401990	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs202004564	chr19:51401997-51401998	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs556515934	chr19:51402021-51402022	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs563335430	chr19:51402040-51402041	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs113835397	chr19:51402058-51402059	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs112321301	chr19:51402066-51402067	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs542942919	chr19:51402084-51402085	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs555203471	chr19:51402085-51402086	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs532238013	chr19:51402087-51402088	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs540787936	chr19:51402098-51402099	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs575357174	chr19:51402112-51402113	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs115037353	chr19:51402222-51402223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs532947421	chr19:51402233-51402234	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs532630700	chr19:51402248-51402249	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs191783006	chr19:51402251-51402252	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs562863689	chr19:51402265-51402266	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs368943230	chr19:51402346-51402347	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs552350101	chr19:51402391-51402392	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51399400-51401400	Enhancers	Primary B cells from peripheral blood	blood
2	chr19:51399800-51401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:51399800-51401600	Enhancers	HMEC	breast
4	chr19:51399800-51403000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr19:51400600-51402800	Weak transcription	K562	blood
6	chr19:51401000-51401600	Enhancers	GM12878-XiMat	blood
7	chr19:51401400-51402600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr19:51401600-51402400	Weak transcription	GM12878-XiMat	blood
9	chr19:51402400-51403200	Enhancers	GM12878-XiMat	blood
10	chr19:51402600-51402800	Enhancers	Primary B cells from peripheral blood	blood
11	chr19:51402800-51403200	Enhancers	K562	blood

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