Variant report

Variant	esv3360169
Chromosome Location	chr19:55872639-55873549
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:55873343-55882901	IMR90	lung:	n/a	n/a
2	ZNF263	chr19:55872696-55873536	HEK293-T-REx	kidney:	n/a	chr19:55873292-55873313

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:55873515-55873565	IMR90	lung:	fetal
2	chr19:55873515-55873565	ProgFib	skin:	n/a
3	chr19:55873515-55873565	MCF10A-Er-Src	breast:	n/a
4	chr19:55873515-55873565	SK-N-SH_RA	brain:	n/a
5	chr19:55873515-55873565	GM12891	blood:	n/a
6	chr19:55873515-55873565	PFSK-1	brain:	n/a
7	chr19:55873515-55873565	GM12892	blood:	n/a
8	chr19:55873515-55873565	HMEC	breast:	n/a
9	chr19:55873515-55873565	CMK	blood:	n/a
10	chr19:55873515-55873565	HCT-116	colon:	n/a
11	chr19:55873515-55873565	HRCEpiC	kidney:	n/a
12	chr19:55873515-55873565	GM19239	blood:	n/a
13	chr19:55873515-55873565	GM12878	blood:	n/a
14	chr19:55873515-55873565	LNCaP	prostate:	n/a
15	chr19:55873515-55873565	HCPEpiC	choroid plexus:	n/a
16	chr19:55873515-55873565	HCM	heart:	n/a
17	chr19:55873515-55873565	HEK293	kidney:	embryo
18	chr19:55873515-55873565	PANC-1	pancreas:	n/a
19	chr19:55873515-55873565	AG09309	skin:	n/a
20	chr19:55873515-55873565	RPTEC	kidney:	n/a
21	chr19:55873515-55873565	HPAEpiC	pulmonary alveolar:	n/a
22	chr19:55873515-55873565	Hela-S3	cervix:	n/a
23	chr19:55873515-55873565	PrEC	prostate:	n/a
24	chr19:55873515-55873565	NH-A	brain:	n/a
25	chr19:55873515-55873565	HRE	kidney:	n/a
26	chr19:55873515-55873565	HUVEC	blood vessel:	n/a
27	chr19:55873515-55873565	SK-N-MC	brain:	n/a
28	chr19:55873515-55873565	NB4	blood:	n/a
29	chr19:55873515-55873565	ovcar-3	ovarian:	n/a
30	chr19:55873515-55873565	HEEpiC	esophagus:	n/a
31	chr19:55873515-55873565	HIPEpiC	eye:	n/a
32	chr19:55873515-55873565	HNPCEpiC	eye:	n/a
33	chr19:55873515-55873565	Jurkat	blood:	n/a
34	chr19:55873515-55873565	HRPEpiC	eye:	n/a
35	chr19:55873515-55873565	SAEC	small airway:	n/a
36	chr19:55873515-55873565	AoSMC	blood vessel:	n/a
37	chr19:55873515-55873565	A549	lung:	n/a
38	chr19:55873515-55873565	U87	brain:	n/a
39	chr19:55873515-55873565	SK-N-SH	brain:	n/a
40	chr19:55873515-55873565	SKMC	muscle:	n/a
41	chr19:55873515-55873565	ECC-1	luminal epithelium:	n/a
42	chr19:55873515-55873565	Caco-2	colon:	n/a
43	chr19:55873515-55873565	T-47D	breast:	n/a
44	chr19:55873515-55873565	AG04450	lung:	fetal
45	chr19:55873515-55873565	NHDF-neo	bronchial:	n/a
46	chr19:55873515-55873565	BJ	skin:	n/a
47	chr19:55873515-55873565	HepG2	liver:	n/a
48	chr19:55873515-55873565	AG04449	skin:	fetal
49	chr19:55873515-55873565	GM06990	blood:	n/a
50	chr19:55873515-55873565	NT2-D1	testis:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:55599701..55601283-chr19:55870959..55872935,2	K562	blood:
2	chr19:55872617..55875125-chr19:55881370..55883672,2	K562	blood:
3	chr19:55861836..55864418-chr19:55872988..55875222,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267706	TF binding region
ENSG00000267706	CpG island
ENSG00000160471	chromatin interactions
ENSG00000095752	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558786238	chr19:55872642-55872643	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs372952355	chr19:55872654-55872655	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs115384880	chr19:55872655-55872656	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs114116314	chr19:55872672-55872673	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs57522947	chr19:55872691-55872692	Weak transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540273978	chr19:55872731-55872732	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs73607060	chr19:55872734-55872735	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs368611853	chr19:55872772-55872773	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs532491683	chr19:55872794-55872795	Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs542355769	chr19:55872804-55872805	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546203600	chr19:55872816-55872817	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs370947642	chr19:55872818-55872819	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563163474	chr19:55872837-55872838	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs11673515	chr19:55872864-55872865	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs548778229	chr19:55872913-55872914	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11673554	chr19:55872955-55872956	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs113065599	chr19:55872975-55872976	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529823588	chr19:55872979-55872980	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs386811062	chr19:55872982-55872983	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs71181759	chr19:55872989-55872990	Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs367953842	chr19:55873008-55873009	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs546670788	chr19:55873039-55873040	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs566366101	chr19:55873040-55873041	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs11669717	chr19:55873061-55873062	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs62128175	chr19:55873086-55873087	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs111934766	chr19:55873087-55873088	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs62128176	chr19:55873093-55873094	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs558593913	chr19:55873105-55873106	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs12609952	chr19:55873110-55873111	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs62128177	chr19:55873114-55873115	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs62128178	chr19:55873117-55873118	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs148266819	chr19:55873126-55873127	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs62128179	chr19:55873128-55873129	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs113566130	chr19:55873133-55873134	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs7409433	chr19:55873146-55873147	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs199896111	chr19:55873148-55873149	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs201132105	chr19:55873150-55873151	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs199790070	chr19:55873154-55873155	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs200908828	chr19:55873155-55873156	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs56027570	chr19:55873159-55873160	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs537689399	chr19:55873176-55873177	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs75097423	chr19:55873192-55873193	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs12611363	chr19:55873193-55873194	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs77816829	chr19:55873199-55873200	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs564896027	chr19:55873212-55873213	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs200174852	chr19:55873216-55873217	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs554337258	chr19:55873232-55873233	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs560111896	chr19:55873235-55873236	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs74889920	chr19:55873236-55873237	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs182899885	chr19:55873239-55873240	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55866200-55880600	Weak transcription	Right Atrium	heart
2	chr19:55869800-55874000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:55870200-55873600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr19:55871400-55877000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr19:55871400-55880200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr19:55871800-55874200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:55872000-55873000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:55872000-55874000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr19:55872400-55873600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:55872600-55872800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr19:55873400-55873600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:55873400-55879800	Weak transcription	HSMM	muscle

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