Variant report

Variant	nsv511623
Chromosome Location	chr19:51400775-51408842
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr19:51399719-51400959	GM12878	blood:	n/a	n/a
2	ATF2	chr19:51399748-51400831	GM12878	blood:	n/a	n/a
3	BATF	chr19:51399841-51400784	GM12878	blood:	n/a	n/a
4	BCLAF1	chr19:51399742-51400846	GM12878	blood:	n/a	n/a
5	BHLHE40	chr19:51399738-51401225	GM12878	blood:	n/a	n/a
6	CBX3	chr19:51402901-51403221	K562	blood:	n/a	n/a
7	CBX3	chr19:51402777-51403266	K562	blood:	n/a	n/a
8	CEBPB	chr19:51399685-51400979	GM12878	blood:	n/a	n/a
9	CEBPB	chr19:51400913-51401149	A549	lung:	n/a	n/a
10	CHD1	chr19:51399763-51401491	GM12878	blood:	n/a	n/a
11	CHD2	chr19:51399758-51401200	GM12878	blood:	n/a	n/a
12	CTCF	chr19:51400920-51401070	GM12870	blood:	n/a	n/a
13	CTCF	chr19:51400974-51401073	GM19240	blood:	n/a	n/a
14	CTCF	chr19:51400988-51401080	LNCaP	prostate:	n/a	n/a
15	CTCF	chr19:51400940-51401090	HMEC	breast:	n/a	n/a
16	CTCF	chr19:51400920-51401070	GM12864	blood:	n/a	n/a
17	CTCF	chr19:51400960-51401110	GM06990	blood:	n/a	n/a
18	CTCF	chr19:51400920-51401070	GM12869	blood:	n/a	n/a
19	CTCF	chr19:51400940-51401090	NHEK	skin:	n/a	n/a
20	CTCF	chr19:51400880-51401030	HCT-116	colon:	n/a	n/a
21	CTCF	chr19:51400936-51401108	GM12891	blood:	n/a	n/a
22	CTCF	chr19:51400940-51401090	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr19:51400903-51401123	GM19238	blood:	n/a	n/a
24	CTCF	chr19:51400937-51401108	NHEK	skin:	n/a	n/a
25	CTCF	chr19:51401000-51401150	GM12873	blood:	n/a	n/a
26	CTCF	chr19:51400900-51401050	GM12874	blood:	n/a	n/a
27	CTCF	chr19:51400965-51401036	GM10248	blood:	n/a	n/a
28	CTCF	chr19:51400860-51401130	GM12869	blood:	n/a	n/a
29	CTCF	chr19:51400920-51401116	MCF-7	breast:	n/a	n/a
30	CTCF	chr19:51400920-51401070	HMEC	breast:	n/a	n/a
31	CTCF	chr19:51400980-51401130	GM12865	blood:	n/a	n/a
32	CTCF	chr19:51400915-51401118	MCF-7	breast:	n/a	n/a
33	CTCF	chr19:51400900-51401050	GM12872	blood:	n/a	n/a
34	CTCF	chr19:51400923-51401079	GM19239	blood:	n/a	n/a
35	CTCF	chr19:51400870-51401314	HCT-116	colon:	n/a	n/a
36	CTCF	chr19:51404137-51404143	GM13976	blood:	n/a	n/a
37	CTCF	chr19:51400940-51401090	GM12875	blood:	n/a	n/a
38	CTCF	chr19:51400926-51401271	MCF-7	breast:	n/a	n/a
39	CTCF	chr19:51400960-51401110	A549	lung:	n/a	n/a
40	CTCF	chr19:51404155-51404190	GM13976	blood:	n/a	n/a
41	CTCF	chr19:51400970-51401089	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr19:51401020-51401170	GM12865	blood:	n/a	n/a
43	CTCF	chr19:51400880-51401030	GM12871	blood:	n/a	n/a
44	CTCF	chr19:51400911-51401120	MCF-7	breast:	n/a	n/a
45	CTCF	chr19:51400860-51401010	HCT-116	colon:	n/a	n/a
46	CTCF	chr19:51400960-51401110	GM12878	blood:	n/a	n/a
47	CTCF	chr19:51400940-51401090	MCF-7	breast:	n/a	n/a
48	CTCF	chr19:51400920-51401070	GM06990	blood:	n/a	n/a
49	CTCF	chr19:51400906-51401130	MCF-7	breast:	n/a	n/a
50	CTCF	chr19:51400960-51401067	GM10266	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51400998-51401048	H1-hESC	embryonic stem cell:	embryo
2	chr19:51400998-51401048	ProgFib	skin:	n/a
3	chr19:51400998-51401048	AG10803	skin:	n/a
4	chr19:51400998-51401048	SK-N-MC	brain:	n/a
5	chr19:51400998-51401048	HCT-116	colon:	n/a
6	chr19:51400998-51401048	Hela-S3	cervix:	n/a
7	chr19:51400998-51401048	PANC-1	pancreas:	n/a
8	chr19:51400998-51401048	SK-N-SH_RA	brain:	n/a
9	chr19:51400998-51401048	BJ	skin:	n/a
10	chr19:51400998-51401048	PrEC	prostate:	n/a
11	chr19:51400998-51401048	LNCaP	prostate:	n/a
12	chr19:51400998-51401048	ovcar-3	ovarian:	n/a
13	chr19:51400998-51401048	AoSMC	blood vessel:	n/a
14	chr19:51400998-51401048	NT2-D1	testis:	n/a
15	chr19:51400998-51401048	NB4	blood:	n/a
16	chr19:51400998-51401048	HRE	kidney:	n/a
17	chr19:51400998-51401048	CMK	blood:	n/a
18	chr19:51400998-51401048	K562	blood:	n/a
19	chr19:51400998-51401048	AG09309	skin:	n/a
20	chr19:51400998-51401048	HEEpiC	esophagus:	n/a
21	chr19:51400998-51401048	IMR90	lung:	fetal
22	chr19:51400998-51401048	BE2_C	brain:	n/a
23	chr19:51400998-51401048	HRPEpiC	eye:	n/a
24	chr19:51400998-51401048	GM12891	blood:	n/a
25	chr19:51400998-51401048	Hepatocyte	liver:	n/a
26	chr19:51400998-51401048	SAEC	small airway:	n/a
27	chr19:51400998-51401048	HUVEC	blood vessel:	n/a
28	chr19:51400998-51401048	HCM	heart:	n/a
29	chr19:51400998-51401048	PFSK-1	brain:	n/a
30	chr19:51400998-51401048	U87	brain:	n/a
31	chr19:51400998-51401048	HepG2	liver:	n/a
32	chr19:51400998-51401048	HCPEpiC	choroid plexus:	n/a
33	chr19:51400998-51401048	NHDF-neo	bronchial:	n/a
34	chr19:51400998-51401048	GM06990	blood:	n/a
35	chr19:51400998-51401048	HL-60	blood:	n/a
36	chr19:51400998-51401048	A549	lung:	n/a
37	chr19:51400998-51401048	AG04450	lung:	fetal
38	chr19:51400998-51401048	HEK293	kidney:	embryo
39	chr19:51400998-51401048	GM12892	blood:	n/a
40	chr19:51400998-51401048	HPAEpiC	pulmonary alveolar:	n/a
41	chr19:51400998-51401048	HMEC	breast:	n/a
42	chr19:51400998-51401048	SKMC	muscle:	n/a
43	chr19:51400998-51401048	GM12878	blood:	n/a
44	chr19:51400998-51401048	AG04449	skin:	fetal
45	chr19:51400998-51401048	HCF	heart:	n/a
46	chr19:51400998-51401048	RPTEC	kidney:	n/a
47	chr19:51400998-51401048	MCF10A-Er-Src	breast:	n/a
48	chr19:51400998-51401048	MCF-7	breast:	n/a
49	chr19:51400998-51401048	AG09319	gingival:	n/a
50	chr19:51400998-51401048	Caco-2	colon:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51391887..51394090-chr19:51400649..51402810,2	MCF-7	breast:
2	chr19:51306246..51308382-chr19:51400037..51401731,2	K562	blood:
3	chr19:51297092..51299196-chr19:51400128..51402648,2	K562	blood:
4	chr19:51405117..51408111-chr19:51411398..51414932,3	MCF-7	breast:
5	chr19:51402463..51404550-chr19:51522904..51525156,2	MCF-7	breast:
6	chr19:51398615..51401717-chr19:51409067..51411982,3	K562	blood:
7	chr19:51305899..51307746-chr19:51399929..51401731,2	K562	blood:
8	chr19:51398902..51402347-chr19:51410482..51413710,3	K562	blood:

No data

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

Extended variants
information (count: 278 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:278 , 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	rs1610231	chr19:51400775-51400776	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2659107	chr19:51400812-51400813	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs193014174	chr19:51400813-51400814	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs1560719	chr19:51400836-51400837	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs115023171	chr19:51400848-51400849	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs577260527	chr19:51400871-51400872	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs143903993	chr19:51400876-51400877	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs369312426	chr19:51400883-51400884	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs144254238	chr19:51400914-51400915	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs531128829	chr19:51400915-51400916	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs541694088	chr19:51400931-51400932	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs561563719	chr19:51400953-51400954	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs528556350	chr19:51400998-51400999	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs114171752	chr19:51400999-51401000	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs561435746	chr19:51401029-51401030	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs114724768	chr19:51401079-51401080	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs148705526	chr19:51401085-51401086	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs371150456	chr19:51401087-51401088	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs116686961	chr19:51401093-51401094	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs374488405	chr19:51401202-51401203	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs537386122	chr19:51401204-51401205	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs142463956	chr19:51401290-51401291	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs200932982	chr19:51401301-51401302	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs374047430	chr19:51401383-51401384	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs573829442	chr19:51401392-51401393	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs10409668	chr19:51401401-51401402	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552994055	chr19:51401467-51401468	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs577320004	chr19:51401470-51401471	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs567187912	chr19:51401506-51401507	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs183457454	chr19:51401517-51401518	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs150896065	chr19:51401528-51401529	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs574343756	chr19:51401561-51401562	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs575514576	chr19:51401564-51401565	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs543055689	chr19:51401608-51401609	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs188115696	chr19:51401617-51401618	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs372064161	chr19:51401641-51401642	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs7250437	chr19:51401656-51401657	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs139718345	chr19:51401676-51401677	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs532670463	chr19:51401692-51401693	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs375995287	chr19:51401739-51401740	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs115887456	chr19:51401744-51401745	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs569303003	chr19:51401776-51401777	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs8104538	chr19:51401797-51401798	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs3875143	chr19:51401807-51401808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs567460263	chr19:51401809-51401810	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534766123	chr19:51401865-51401866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs76732076	chr19:51401927-51401928	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs529193085	chr19:51401955-51401956	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs116777269	chr19:51401960-51401961	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs547263579	chr19:51401968-51401969	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 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:17 , 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	chr19:51399800-51401000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:51399800-51401400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr19:51399800-51401600	Enhancers	HMEC	breast
5	chr19:51399800-51403000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:51400000-51400800	Enhancers	NHEK	skin
7	chr19:51400200-51401000	Flanking Active TSS	GM12878-XiMat	blood
8	chr19:51400600-51402800	Weak transcription	K562	blood
9	chr19:51401000-51401600	Enhancers	GM12878-XiMat	blood
10	chr19:51401400-51402600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr19:51401600-51402400	Weak transcription	GM12878-XiMat	blood
12	chr19:51402400-51403200	Enhancers	GM12878-XiMat	blood
13	chr19:51402600-51402800	Enhancers	Primary B cells from peripheral blood	blood
14	chr19:51402800-51403200	Enhancers	K562	blood
15	chr19:51407200-51408000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:51407400-51407800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr19:51408600-51409400	Weak transcription	GM12878-XiMat	blood

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