Variant report

Variant	esv3319227
Chromosome Location	chr19:51508433-51511726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:19)
CpG islands
(count:63)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51508320-51508470	GM12871	blood:	n/a	n/a
2	CTCF	chr19:51508482-51508582	Lung_OC	lung:	n/a	n/a
3	CTCF	chr19:51511053-51511112	GM10266	blood:	n/a	n/a
4	ELF1	chr19:51509795-51510060	K562	blood:	n/a	n/a
5	HDAC2	chr19:51510795-51510997	K562	blood:	n/a	n/a
6	JUN	chr19:51509803-51509939	HepG2	liver:	n/a	chr19:51509838-51509851
7	JUN	chr19:51509656-51509821	K562	blood:	n/a	n/a
8	JUND	chr19:51509715-51510011	HepG2	liver:	n/a	n/a
9	JUND	chr19:51509760-51509880	H1-hESC	embryonic stem cell:	n/a	n/a
10	JUND	chr19:51509785-51509985	K562	blood:	n/a	n/a
11	POLR2A	chr19:51508881-51508928	H1-hESC	embryonic stem cell:	n/a	n/a
12	RCOR1	chr19:51510735-51511119	K562	blood:	n/a	n/a
13	RCOR1	chr19:51508562-51508762	K562	blood:	n/a	n/a
14	RCOR1	chr19:51510839-51511075	K562	blood:	n/a	n/a
15	RCOR1	chr19:51508526-51508899	K562	blood:	n/a	n/a
16	ZNF143	chr19:51510775-51511052	H1-hESC	embryonic stem cell:	n/a	chr19:51510931-51510950 chr19:51510932-51510947
17	ZNF143	chr19:51508525-51508873	K562	blood:	n/a	chr19:51508696-51508715 chr19:51508697-51508712
18	ZNF143	chr19:51508549-51508749	H1-hESC	embryonic stem cell:	n/a	chr19:51508696-51508715 chr19:51508697-51508712
19	ZNF143	chr19:51510786-51511086	K562	blood:	n/a	chr19:51510931-51510950 chr19:51510932-51510947

(count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51508927-51508977	AoSMC	blood vessel:	n/a
2	chr19:51508927-51508977	H1-hESC	embryonic stem cell:	embryo
3	chr19:51508927-51508977	AoSMC	blood vessel:	n/a
4	chr19:51508927-51508977	H1-hESC	embryonic stem cell:	embryo
5	chr19:51508927-51508977	SAEC	small airway:	n/a
6	chr19:51508927-51508977	AG09309	skin:	n/a
7	chr19:51508927-51508977	CMK	blood:	n/a
8	chr19:51508927-51508977	NHBE	bronchial:	n/a
9	chr19:51508927-51508977	GM12891	blood:	n/a
10	chr19:51508927-51508977	AG09319	gingival:	n/a
11	chr19:51508927-51508977	IMR90	lung:	fetal
12	chr19:51508927-51508977	HMEC	breast:	n/a
13	chr19:51508927-51508977	HRPEpiC	eye:	n/a
14	chr19:51508927-51508977	K562	blood:	n/a
15	chr19:51508927-51508977	HUVEC	blood vessel:	n/a
16	chr19:51508927-51508977	GM12878	blood:	n/a
17	chr19:51508927-51508977	ovcar-3	ovarian:	n/a
18	chr19:51508927-51508977	AG04449	skin:	fetal
19	chr19:51508927-51508977	GM19239	blood:	n/a
20	chr19:51508927-51508977	GM12892	blood:	n/a
21	chr19:51508927-51508977	MCF-7	breast:	n/a
22	chr19:51508927-51508977	PFSK-1	brain:	n/a
23	chr19:51508927-51508977	SKMC	muscle:	n/a
24	chr19:51508927-51508977	HNPCEpiC	eye:	n/a
25	chr19:51508927-51508977	HCT-116	colon:	n/a
26	chr19:51508927-51508977	HIPEpiC	eye:	n/a
27	chr19:51508927-51508977	ECC-1	luminal epithelium:	n/a
28	chr19:51508927-51508977	HEEpiC	esophagus:	n/a
29	chr19:51508927-51508977	NB4	blood:	n/a
30	chr19:51508927-51508977	HPAEpiC	pulmonary alveolar:	n/a
31	chr19:51508927-51508977	T-47D	breast:	n/a
32	chr19:51508927-51508977	HCPEpiC	choroid plexus:	n/a
33	chr19:51508927-51508977	BE2_C	brain:	n/a
34	chr19:51508927-51508977	HL-60	blood:	n/a
35	chr19:51508927-51508977	HCF	heart:	n/a
36	chr19:51508927-51508977	HAEpiC	amniotic membrane:	n/a
37	chr19:51508927-51508977	SK-N-MC	brain:	n/a
38	chr19:51508927-51508977	U87	brain:	n/a
39	chr19:51508927-51508977	HRCEpiC	kidney:	n/a
40	chr19:51508927-51508977	AG04450	lung:	fetal
41	chr19:51508927-51508977	RPTEC	kidney:	n/a
42	chr19:51508927-51508977	Jurkat	blood:	n/a
43	chr19:51508927-51508977	GM06990	blood:	n/a
44	chr19:51508927-51508977	NHDF-neo	bronchial:	n/a
45	chr19:51508927-51508977	Caco-2	colon:	n/a
46	chr19:51508927-51508977	SK-N-SH_RA	brain:	n/a
47	chr19:51508927-51508977	SK-N-SH	brain:	n/a
48	chr19:51508927-51508977	A549	lung:	n/a
49	chr19:51508927-51508977	ProgFib	skin:	n/a
50	chr19:51508927-51508977	PANC-1	pancreas:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51509564..51511935-chr19:51512603..51515013,2	K562	blood:
2	chr19:51511667..51513229-chr19:51517144..51519553,2	MCF-7	breast:

No data

Variant related genes	Relation type
KLK8	TF binding region
ENSG00000269741	TF binding region
KLK8	CpG island
ENSG00000269741	CpG island
ENSG00000213022	chromatin interactions
ENSG00000268739	chromatin interactions

Extended variants
information (count: 149 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115883102	chr19:51508456-51508457	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs377343171	chr19:51508464-51508465	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs566741046	chr19:51508499-51508500	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs80253708	chr19:51508519-51508520	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs553268643	chr19:51508580-51508581	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs2569473	chr19:51508621-51508622	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs577700424	chr19:51508627-51508628	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs187191037	chr19:51508703-51508704	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs113916351	chr19:51508713-51508714	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs11672663	chr19:51508721-51508722	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs538410748	chr19:51508723-51508724	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs556789923	chr19:51508749-51508750	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs575251653	chr19:51508775-51508776	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs181163991	chr19:51508860-51508861	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs10401205	chr19:51508886-51508887	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs373760666	chr19:51508894-51508895	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs10426081	chr19:51508896-51508897	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540957119	chr19:51508927-51508928	Weak transcription	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
19	rs199549709	chr19:51508978-51508979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113915632	chr19:51508984-51508985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577532552	chr19:51509035-51509036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544752621	chr19:51509078-51509079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs137993095	chr19:51509109-51509110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530251549	chr19:51509119-51509120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11673588	chr19:51509158-51509159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560139674	chr19:51509161-51509162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200118661	chr19:51509180-51509181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144461714	chr19:51509189-51509190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562144225	chr19:51509190-51509191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533715288	chr19:51509192-51509193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191664749	chr19:51509215-51509216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200310627	chr19:51509279-51509280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561180999	chr19:51509290-51509291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370345510	chr19:51509328-51509329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571167764	chr19:51509339-51509340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183499733	chr19:51509340-51509341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150507579	chr19:51509366-51509367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs113832971	chr19:51509381-51509382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370163597	chr19:51509382-51509383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs60620559	chr19:51509410-51509411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542339922	chr19:51509445-51509446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568561524	chr19:51509452-51509453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138674427	chr19:51509476-51509477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373762977	chr19:51509501-51509502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573024555	chr19:51509523-51509524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs185356028	chr19:51509527-51509528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537527492	chr19:51509548-51509549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533738181	chr19:51509584-51509585	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs559306074	chr19:51509589-51509590	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78981292	chr19:51509595-51509596	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51506000-51509200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr19:51506000-51509600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr19:51506200-51509600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr19:51506200-51509600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:51506400-51509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:51506400-51509400	Weak transcription	HMEC	breast
7	chr19:51506400-51509600	Weak transcription	NHEK	skin
8	chr19:51507200-51512400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:51509200-51510600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:51509400-51510200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr19:51509400-51510800	Enhancers	HMEC	breast
12	chr19:51509600-51510200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr19:51509600-51510200	Enhancers	NHEK	skin
14	chr19:51509600-51510400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:51509600-51510400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:51510200-51512000	Weak transcription	NHEK	skin
17	chr19:51510200-51512400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:51510200-51517000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr19:51510400-51512200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:51510600-51512200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:51510800-51512000	Weak transcription	HMEC	breast

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