Variant report

Variant	esv3411589
Chromosome Location	chr19:18939302-18941700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr19:18941442-18941653	NB4	blood:	n/a	chr19:18941571-18941581
2	POLR2A	chr19:18940727-18940787	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:18941685-18941766	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:18940631-18940830	GM12878	blood:	n/a	n/a
5	RCOR1	chr19:18941546-18941631	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18939991-18940041	NB4	blood:	n/a
2	chr19:18939991-18940041	Jurkat	blood:	n/a
3	chr19:18939991-18940041	AG09319	gingival:	n/a
4	chr19:18939991-18940041	HL-60	blood:	n/a
5	chr19:18939991-18940041	Caco-2	colon:	n/a
6	chr19:18939991-18940041	HNPCEpiC	eye:	n/a
7	chr19:18939991-18940041	PANC-1	pancreas:	n/a
8	chr19:18939991-18940041	HCPEpiC	choroid plexus:	n/a
9	chr19:18939991-18940041	SK-N-MC	brain:	n/a
10	chr19:18939991-18940041	HUVEC	blood vessel:	n/a
11	chr19:18939991-18940041	Hepatocyte	liver:	n/a
12	chr19:18939991-18940041	HCT-116	colon:	n/a
13	chr19:18939991-18940041	GM06990	blood:	n/a
14	chr19:18939991-18940041	HRE	kidney:	n/a
15	chr19:18939991-18940041	LNCaP	prostate:	n/a
16	chr19:18939991-18940041	MCF10A-Er-Src	breast:	n/a
17	chr19:18939991-18940041	AG09309	skin:	n/a
18	chr19:18939991-18940041	HEK293	kidney:	embryo
19	chr19:18939991-18940041	NHDF-neo	bronchial:	n/a
20	chr19:18939991-18940041	SAEC	small airway:	n/a
21	chr19:18939991-18940041	HRCEpiC	kidney:	n/a
22	chr19:18939991-18940041	HEEpiC	esophagus:	n/a
23	chr19:18939991-18940041	H1-hESC	embryonic stem cell:	embryo
24	chr19:18939991-18940041	RPTEC	kidney:	n/a
25	chr19:18939991-18940041	NT2-D1	testis:	n/a
26	chr19:18939991-18940041	NH-A	brain:	n/a
27	chr19:18939991-18940041	A549	lung:	n/a
28	chr19:18939991-18940041	AG10803	skin:	n/a
29	chr19:18939991-18940041	GM12878	blood:	n/a
30	chr19:18939991-18940041	ECC-1	luminal epithelium:	n/a
31	chr19:18939991-18940041	GM12892	blood:	n/a
32	chr19:18939991-18940041	HAEpiC	amniotic membrane:	n/a
33	chr19:18939991-18940041	MCF-7	breast:	n/a
34	chr19:18939991-18940041	GM19239	blood:	n/a
35	chr19:18939991-18940041	HRPEpiC	eye:	n/a
36	chr19:18939991-18940041	HCF	heart:	n/a
37	chr19:18939991-18940041	Hela-S3	cervix:	n/a
38	chr19:18939991-18940041	PrEC	prostate:	n/a
39	chr19:18939991-18940041	T-47D	breast:	n/a
40	chr19:18939991-18940041	U87	brain:	n/a
41	chr19:18939991-18940041	HMEC	breast:	n/a
42	chr19:18939991-18940041	BJ	skin:	n/a
43	chr19:18939991-18940041	SK-N-SH	brain:	n/a
44	chr19:18939991-18940041	HIPEpiC	eye:	n/a
45	chr19:18939991-18940041	AoSMC	blood vessel:	n/a
46	chr19:18939991-18940041	HCM	heart:	n/a
47	chr19:18939991-18940041	BE2_C	brain:	n/a
48	chr19:18939991-18940041	AG04449	skin:	fetal
49	chr19:18939991-18940041	GM12891	blood:	n/a
50	chr19:18939991-18940041	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18937238..18939878-chr19:18941413..18942979,2	MCF-7	breast:

No data

Variant related genes	Relation type
UPF1	TF binding region
UPF1	CpG island
ENSG00000005007	chromatin interactions

Extended variants
information (count: 31 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146561421	chr19:18939309-18939310	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs574306410	chr19:18939367-18939368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs138776676	chr19:18939411-18939412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs149514710	chr19:18939478-18939479	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs4808859	chr19:18939497-18939498	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188332727	chr19:18939541-18939542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs538393299	chr19:18939658-18939659	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs528396242	chr19:18939659-18939660	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs578026641	chr19:18939668-18939669	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561379429	chr19:18939696-18939697	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192660725	chr19:18939749-18939750	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530033735	chr19:18939758-18939759	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs148280920	chr19:18939768-18939769	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570143164	chr19:18939776-18939777	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs532626558	chr19:18939807-18939808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs74505744	chr19:18939846-18939847	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs192661469	chr19:18939992-18939993	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
18	rs75712180	chr19:18940655-18940656	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs77571635	chr19:18940656-18940657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs539193768	chr19:18940672-18940673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs552782399	chr19:18940676-18940677	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs12984055	chr19:18940697-18940698	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs535272598	chr19:18940709-18940710	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs80199940	chr19:18941447-18941448	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs116706277	chr19:18941459-18941460	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs574133921	chr19:18941535-18941536	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143973230	chr19:18941586-18941587	Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs543139060	chr19:18941602-18941603	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs563008548	chr19:18941611-18941612	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs145973686	chr19:18941659-18941660	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187569903	chr19:18941700-18941701	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18941400-18941600	Enhancers	Spleen	Spleen
2	chr19:18941600-18942200	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr19:18941600-18942200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:18941600-18943800	Active TSS	Duodenum Mucosa	Duodenum

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