Variant report

Variant	nsv524465
Chromosome Location	chr19:51360087-51363398
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:51362299-51362577	MCF-7	breast:	n/a	n/a
2	CTCF	chr19:51362306-51362309	MCF-7	breast:	n/a	n/a
3	CTCF	chr19:51362311-51362594	MCF-7	breast:	n/a	n/a
4	CTCF	chr19:51362272-51362580	MCF-7	breast:	n/a	n/a
5	CTCF	chr19:51362435-51362575	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr19:51362320-51362470	MCF-7	breast:	n/a	n/a
7	CTCF	chr19:51362393-51362562	MCF-7	breast:	n/a	n/a
8	CTCF	chr19:51362400-51362550	NHEK	skin:	n/a	n/a
9	CTCF	chr19:51362413-51362597	LNCaP	prostate:	n/a	n/a
10	CTCF	chr19:51362437-51362572	MCF-7	breast:	n/a	n/a
11	ELF1	chr19:51363194-51363500	K562	blood:	n/a	chr19:51363339-51363352
12	JUND	chr19:51361758-51361958	HepG2	liver:	n/a	chr19:51361852-51361861 chr19:51361853-51361860 chr19:51361850-51361861
13	MAX	chr19:51362100-51362479	MCF-7	breast:	n/a	n/a
14	MYC	chr19:51361480-51361483	MCF-7	breast:	n/a	n/a
15	MYC	chr19:51362504-51362524	MCF-7	breast:	n/a	n/a
16	MYC	chr19:51362354-51362406	MCF-7	breast:	n/a	n/a
17	MYC	chr19:51362530-51362580	MCF-7	breast:	n/a	n/a
18	MYC	chr19:51362236-51362423	MCF-7	breast:	n/a	n/a
19	MYC	chr19:51362642-51362650	MCF-7	breast:	n/a	n/a
20	MYC	chr19:51361494-51361506	MCF-7	breast:	n/a	n/a
21	MYC	chr19:51362409-51362419	MCF-7	breast:	n/a	n/a
22	MYC	chr19:51362261-51362472	MCF-7	breast:	n/a	n/a
23	POLR2A	chr19:51361725-51361728	MCF-7	breast:	n/a	n/a
24	POLR2A	chr19:51362413-51362511	MCF-7	breast:	n/a	n/a
25	POLR2A	chr19:51362538-51362962	MCF-7	breast:	n/a	n/a
26	POLR2A	chr19:51361760-51361773	MCF-7	breast:	n/a	n/a
27	POLR2A	chr19:51361802-51361856	MCF-7	breast:	n/a	n/a
28	POLR2A	chr19:51363263-51363328	MCF-7	breast:	n/a	n/a
29	SIN3A	chr19:51362172-51362313	H1-hESC	embryonic stem cell:	n/a	n/a
30	TBP	chr19:51363149-51363250	K562	blood:	n/a	n/a
31	TCF12	chr19:51362195-51362462	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:51362954-51363004	Caco-2	colon:	n/a
2	chr19:51362954-51363004	LNCaP	prostate:	n/a
3	chr19:51362954-51363004	RPTEC	kidney:	n/a
4	chr19:51362954-51363004	PFSK-1	brain:	n/a
5	chr19:51362954-51363004	PANC-1	pancreas:	n/a
6	chr19:51362954-51363004	AG10803	skin:	n/a
7	chr19:51362954-51363004	HAEpiC	amniotic membrane:	n/a
8	chr19:51362954-51363004	NT2-D1	testis:	n/a
9	chr19:51362954-51363004	PrEC	prostate:	n/a
10	chr19:51362954-51363004	HCF	heart:	n/a
11	chr19:51362954-51363004	ProgFib	skin:	n/a
12	chr19:51362954-51363004	U87	brain:	n/a
13	chr19:51362954-51363004	A549	lung:	n/a
14	chr19:51362954-51363004	HL-60	blood:	n/a
15	chr19:51362954-51363004	BJ	skin:	n/a
16	chr19:51362954-51363004	ECC-1	luminal epithelium:	n/a
17	chr19:51362954-51363004	NHDF-neo	bronchial:	n/a
18	chr19:51362954-51363004	HCPEpiC	choroid plexus:	n/a
19	chr19:51362954-51363004	AG09309	skin:	n/a
20	chr19:51362954-51363004	SK-N-MC	brain:	n/a
21	chr19:51362954-51363004	MCF-7	breast:	n/a
22	chr19:51362954-51363004	T-47D	breast:	n/a
23	chr19:51362954-51363004	HRE	kidney:	n/a
24	chr19:51362954-51363004	AG09319	gingival:	n/a
25	chr19:51362954-51363004	HCM	heart:	n/a
26	chr19:51362954-51363004	HNPCEpiC	eye:	n/a
27	chr19:51362954-51363004	AoSMC	blood vessel:	n/a
28	chr19:51362954-51363004	AG04450	lung:	fetal
29	chr19:51362954-51363004	HMEC	breast:	n/a
30	chr19:51362954-51363004	NB4	blood:	n/a
31	chr19:51362954-51363004	HEEpiC	esophagus:	n/a
32	chr19:51362954-51363004	GM12878	blood:	n/a
33	chr19:51362954-51363004	Hela-S3	cervix:	n/a
34	chr19:51362954-51363004	HIPEpiC	eye:	n/a
35	chr19:51362954-51363004	HepG2	liver:	n/a
36	chr19:51362954-51363004	SK-N-SH	brain:	n/a
37	chr19:51362954-51363004	Hepatocyte	liver:	n/a
38	chr19:51362954-51363004	AG04449	skin:	fetal
39	chr19:51362954-51363004	NH-A	brain:	n/a
40	chr19:51362954-51363004	SAEC	small airway:	n/a
41	chr19:51362954-51363004	BE2_C	brain:	n/a
42	chr19:51362954-51363004	SKMC	muscle:	n/a
43	chr19:51362954-51363004	MCF10A-Er-Src	breast:	n/a
44	chr19:51362954-51363004	HPAEpiC	pulmonary alveolar:	n/a
45	chr19:51362954-51363004	Jurkat	blood:	n/a
46	chr19:51362954-51363004	GM12892	blood:	n/a
47	chr19:51362954-51363004	HEK293	kidney:	embryo
48	chr19:51362954-51363004	GM12891	blood:	n/a
49	chr19:51362954-51363004	K562	blood:	n/a
50	chr19:51362954-51363004	SK-N-SH_RA	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51357627..51359895-chr19:51362884..51364661,2	K562	blood:
2	chr19:51300732..51302357-chr19:51358771..51360545,2	K562	blood:
3	chr19:51335920..51338243-chr19:51361874..51364781,2	K562	blood:
4	chr19:51296075..51301998-chr19:51356744..51362542,6	K562	blood:

No data

Variant related genes	Relation type
KLK2	TF binding region
KLK3	TF binding region
KLK2	CpG island
KLK3	CpG island
ENSG00000142515	chromatin interactions
ENSG00000268375	chromatin interactions
ENSG00000174562	chromatin interactions

Extended variants
information (count: 227 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs1061476	chr19:51360087-51360088	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs112526646	chr19:51360092-51360093	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1061477	chr19:51360096-51360097	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs572763492	chr19:51360097-51360098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531392134	chr19:51360141-51360142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185263651	chr19:51360144-51360145	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532525400	chr19:51360145-51360146	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370778081	chr19:51360167-51360168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111443720	chr19:51360216-51360217	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550802310	chr19:51360244-51360245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562639546	chr19:51360276-51360277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530161760	chr19:51360279-51360280	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540393407	chr19:51360280-51360281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs3180017	chr19:51360351-51360352	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566830870	chr19:51360367-51360368	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs527689854	chr19:51360373-51360374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs578067733	chr19:51360399-51360400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs560492067	chr19:51360401-51360402	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs191177367	chr19:51360414-51360415	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs368857038	chr19:51360415-51360416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372296728	chr19:51360416-51360417	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs376594258	chr19:51360417-51360418	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560911495	chr19:51360418-51360419	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs367739584	chr19:51360419-51360420	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544196970	chr19:51360433-51360434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183843178	chr19:51360435-51360436	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs567190839	chr19:51360439-51360440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs113476261	chr19:51360440-51360441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372329134	chr19:51360445-51360446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs143944639	chr19:51360464-51360465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562883894	chr19:51360520-51360521	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs34314580	chr19:51360533-51360534	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs557224433	chr19:51360676-51360677	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs147384587	chr19:51360743-51360744	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs530333270	chr19:51360744-51360745	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112956468	chr19:51360759-51360760	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs266877	chr19:51360768-51360769	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112258520	chr19:51360770-51360771	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs187193902	chr19:51360787-51360788	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs374752282	chr19:51360788-51360789	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539854914	chr19:51360811-51360812	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs266876	chr19:51360818-51360819	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs62113212	chr19:51360840-51360841	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544376828	chr19:51360856-51360857	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562775417	chr19:51360872-51360873	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs147998938	chr19:51360893-51360894	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs191988185	chr19:51360952-51360953	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs112225901	chr19:51360959-51360960	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs560392991	chr19:51361074-51361075	Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs570507509	chr19:51361094-51361095	Bivalent Enhancer Enhancers Weak transcription	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
Adenoid cystic carcinoma	18698036	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51358000-51361400	Weak transcription	Pancreas	Pancrea
2	chr19:51359400-51360600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:51360600-51361200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
4	chr19:51360600-51361200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr19:51360600-51361400	Enhancers	GM12878-XiMat	blood
6	chr19:51360600-51362800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr19:51360600-51363000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr19:51361000-51361400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr19:51361000-51361400	Weak transcription	Esophagus	oesophagus
10	chr19:51361000-51362000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr19:51361200-51361600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
12	chr19:51361400-51361600	Bivalent Enhancer	Right Ventricle	heart
13	chr19:51361400-51362800	Enhancers	Pancreas	Pancrea
14	chr19:51361400-51364800	Enhancers	Esophagus	oesophagus
15	chr19:51361600-51363000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr19:51361800-51362000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr19:51361800-51362600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr19:51362000-51362200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
19	chr19:51362000-51362200	Bivalent Enhancer	Fetal Intestine Large	intestine
20	chr19:51362000-51362800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr19:51362200-51362400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr19:51362400-51362600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
23	chr19:51362600-51363000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr19:51362800-51364400	Weak transcription	Pancreas	Pancrea

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