Variant report

Variant	esv3349332
Chromosome Location	chr19:43237675-43263019
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr19:43246213-43246502	GM12878	blood:	n/a	n/a
2	CEBPB	chr19:43239908-43240549	Hela-S3	cervix:	n/a	n/a
3	CEBPB	chr19:43239891-43240238	IMR90	lung:	n/a	n/a
4	CTCF	chr19:43246255-43246512	Hela-S3	cervix:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
5	CTCF	chr19:43237937-43238012	HepG2	liver:	n/a	n/a
6	CTCF	chr19:43262901-43263138	GM13977	blood:	n/a	n/a
7	CTCF	chr19:43246020-43246170	Hela-S3	cervix:	n/a	chr19:43246062-43246080
8	CTCF	chr19:43262980-43263130	GM12874	blood:	n/a	n/a
9	CTCF	chr19:43246280-43246430	HA-sp	spinal cord:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
10	CTCF	chr19:43246060-43246210	AG04449	skin:	n/a	chr19:43246062-43246080
11	CTCF	chr19:43246300-43246450	HPF	lung:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
12	CTCF	chr19:43246300-43246450	Hela-S3	cervix:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
13	CTCF	chr19:43262920-43263070	GM12864	blood:	n/a	n/a
14	CTCF	chr19:43262927-43263133	GM12892	blood:	n/a	n/a
15	CTCF	chr19:43246300-43246450	Caco-2	colon:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
16	CTCF	chr19:43262941-43263009	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr19:43262560-43262710	GM12865	blood:	n/a	n/a
18	CTCF	chr19:43246245-43246526	Medullo	brain:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
19	CTCF	chr19:43246235-43246528	LNCaP	prostate:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
20	CTCF	chr19:43246240-43246390	HMF	breast:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
21	CTCF	chr19:43237710-43237861	K562	blood:	n/a	n/a
22	CTCF	chr19:43246300-43246450	GM12878	blood:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
23	CTCF	chr19:43246280-43246430	HCT-116	colon:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
24	CTCF	chr19:43262980-43263130	HMEC	breast:	n/a	n/a
25	CTCF	chr19:43246180-43246330	BJ	skin:	n/a	n/a
26	CTCF	chr19:43262960-43263110	GM12864	blood:	n/a	n/a
27	CTCF	chr19:43246600-43246750	BJ	skin:	n/a	n/a
28	CTCF	chr19:43262938-43263052	GM10248	blood:	n/a	n/a
29	CTCF	chr19:43246320-43246470	AG10803	skin:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
30	CTCF	chr19:43256001-43256077	GM19240	blood:	n/a	n/a
31	CTCF	chr19:43237700-43237850	HCT-116	colon:	n/a	n/a
32	CTCF	chr19:43246320-43246470	GM12864	blood:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
33	CTCF	chr19:43246061-43246109	GM12891	blood:	n/a	chr19:43246062-43246080
34	CTCF	chr19:43246260-43246410	NHEK	skin:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
35	CTCF	chr19:43262980-43263130	HEK293	kidney:	n/a	n/a
36	CTCF	chr19:43262894-43263260	K562	blood:	n/a	n/a
37	CTCF	chr19:43246260-43246410	HBMEC	blood vessel:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
38	CTCF	chr19:43241570-43241668	GM10248	blood:	n/a	n/a
39	CTCF	chr19:43246300-43246450	SAEC	small airway:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
40	CTCF	chr19:43242358-43242447	GM10248	blood:	n/a	n/a
41	CTCF	chr19:43246262-43246473	Lung_OC	lung:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
42	CTCF	chr19:43237706-43237986	K562	blood:	n/a	n/a
43	CTCF	chr19:43237685-43238069	MCF-7	breast:	n/a	n/a
44	CTCF	chr19:43246022-43246765	K562	blood:	n/a	chr19:43246360-43246378 chr19:43246062-43246080 chr19:43246366-43246375
45	CTCF	chr19:43246280-43246430	HMEC	breast:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
46	CTCF	chr19:43262540-43262690	AG10803	skin:	n/a	n/a
47	CTCF	chr19:43262980-43263130	HEEpiC	esophagus:	n/a	n/a
48	CTCF	chr19:43246260-43246410	Hela-S3	cervix:	n/a	chr19:43246360-43246378 chr19:43246366-43246375
49	CTCF	chr19:43256001-43256068	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr19:43246134-43246689	A549	lung:	n/a	chr19:43246360-43246378 chr19:43246366-43246375

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:43240516-43240566	K562	blood:	n/a
2	chr19:43240516-43240566	K562	blood:	n/a
3	chr19:43257346-43257396	ovcar-3	ovarian:	n/a
4	chr19:43244635-43244685	MCF10A-Er-Src	breast:	n/a
5	chr19:43245921-43245971	Caco-2	colon:	n/a
6	chr19:43240516-43240566	SK-N-MC	brain:	n/a
7	chr19:43245860-43245910	NHBE	bronchial:	n/a
8	chr19:43245860-43245910	HNPCEpiC	eye:	n/a
9	chr19:43245860-43245910	HCPEpiC	choroid plexus:	n/a
10	chr19:43257346-43257396	PANC-1	pancreas:	n/a
11	chr19:43244635-43244685	GM19239	blood:	n/a
12	chr19:43257346-43257396	Hela-S3	cervix:	n/a
13	chr19:43245860-43245910	AG04450	lung:	fetal
14	chr19:43245921-43245971	HRCEpiC	kidney:	n/a
15	chr19:43245860-43245910	ProgFib	skin:	n/a
16	chr19:43244680-43244730	HEK293	kidney:	embryo
17	chr19:43240516-43240566	GM12878	blood:	n/a
18	chr19:43244635-43244685	GM06990	blood:	n/a
19	chr19:43245921-43245971	AG09319	gingival:	n/a
20	chr19:43245860-43245910	T-47D	breast:	n/a
21	chr19:43240516-43240566	CMK	blood:	n/a
22	chr19:43244680-43244730	HRPEpiC	eye:	n/a
23	chr19:43244680-43244730	CMK	blood:	n/a
24	chr19:43245921-43245971	Hela-S3	cervix:	n/a
25	chr19:43244680-43244730	HL-60	blood:	n/a
26	chr19:43245921-43245971	NT2-D1	testis:	n/a
27	chr19:43245921-43245971	SK-N-SH	brain:	n/a
28	chr19:43245921-43245971	HRPEpiC	eye:	n/a
29	chr19:43257346-43257396	ECC-1	luminal epithelium:	n/a
30	chr19:43257346-43257396	GM12892	blood:	n/a
31	chr19:43244635-43244685	HEK293	kidney:	embryo
32	chr19:43244680-43244730	AG09319	gingival:	n/a
33	chr19:43257346-43257396	HEEpiC	esophagus:	n/a
34	chr19:43257346-43257396	SAEC	small airway:	n/a
35	chr19:43257346-43257396	NHBE	bronchial:	n/a
36	chr19:43244680-43244730	GM12878	blood:	n/a
37	chr19:43245921-43245971	SK-N-SH_RA	brain:	n/a
38	chr19:43245860-43245910	HCM	heart:	n/a
39	chr19:43245921-43245971	NHBE	bronchial:	n/a
40	chr19:43240516-43240566	PrEC	prostate:	n/a
41	chr19:43257346-43257396	MCF10A-Er-Src	breast:	n/a
42	chr19:43240516-43240566	HNPCEpiC	eye:	n/a
43	chr19:43240516-43240566	NT2-D1	testis:	n/a
44	chr19:43245921-43245971	HCT-116	colon:	n/a
45	chr19:43240516-43240566	AoSMC	blood vessel:	n/a
46	chr19:43257346-43257396	RPTEC	kidney:	n/a
47	chr19:43244680-43244730	U87	brain:	n/a
48	chr19:43244680-43244730	AG10803	skin:	n/a
49	chr19:43244680-43244730	AG09309	skin:	n/a
50	chr19:43257346-43257396	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:43197626..43198528-chr19:43245881..43246809,2	MCF-7	breast:
2	chr19:43197619..43198590-chr19:43246174..43246898,3	MCF-7	breast:
3	chr19:43139154..43139986-chr19:43246322..43246897,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PSG3-1	chr19:43256843-43257528	NONHSAT066566
2	lnc-PSG3-1	chr19:43258485-43260276	NONHSAT066566

Variant related genes	Relation type
PSG8	TF binding region
PSG3	TF binding region
PSG8	CpG island
PSG3	CpG island

Extended variants
information (count: 1514 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1514 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28528126	chr19:43237681-43237682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578112054	chr19:43237683-43237684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2353145	chr19:43237690-43237691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560688763	chr19:43237693-43237694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2353144	chr19:43237705-43237706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113382720	chr19:43237744-43237745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs561656743	chr19:43237746-43237747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4030933	chr19:43237764-43237765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550627396	chr19:43237796-43237797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4030932	chr19:43237801-43237802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189243655	chr19:43237819-43237820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs180840275	chr19:43237844-43237845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2353143	chr19:43237884-43237885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2353142	chr19:43237907-43237908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566341424	chr19:43237981-43237982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532239771	chr19:43237994-43237995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186529148	chr19:43237995-43237996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548913577	chr19:43238036-43238037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568890435	chr19:43238053-43238054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537887927	chr19:43238063-43238064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34238157	chr19:43238069-43238070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558149350	chr19:43238133-43238134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs578012778	chr19:43238139-43238140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543822597	chr19:43238194-43238195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534302121	chr19:43238206-43238207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554366815	chr19:43238255-43238256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562137114	chr19:43238258-43238259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377067020	chr19:43238266-43238267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574323716	chr19:43238273-43238274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543337198	chr19:43238275-43238276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563199835	chr19:43238282-43238283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189458723	chr19:43238292-43238293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564113935	chr19:43238315-43238316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532850084	chr19:43238347-43238348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141259771	chr19:43238387-43238388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371639806	chr19:43238395-43238396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559913046	chr19:43238422-43238423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs529082086	chr19:43238437-43238438	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs548851703	chr19:43238439-43238440	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs181731560	chr19:43238452-43238453	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs34900206	chr19:43238460-43238461	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs538162721	chr19:43238484-43238485	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs551437648	chr19:43238492-43238493	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs571624183	chr19:43238493-43238494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs534277667	chr19:43238501-43238502	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186132173	chr19:43238518-43238519	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs574260759	chr19:43238521-43238522	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs7256264	chr19:43238536-43238537	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs566836138	chr19:43238558-43238559	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374019846	chr19:43238559-43238560	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	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	21858162	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
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Cancer	20164920	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43237600-43238400	Weak transcription	Placenta	Placenta
2	chr19:43238400-43241600	Active TSS	Placenta	Placenta
3	chr19:43239000-43240400	Enhancers	NHDF-Ad	bronchial
4	chr19:43239000-43242200	Enhancers	Osteobl	bone
5	chr19:43239000-43242800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr19:43239200-43242000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr19:43239400-43240400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr19:43239400-43242000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr19:43239400-43242200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr19:43239400-43242400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr19:43239400-43242400	Enhancers	HMEC	breast
12	chr19:43239400-43242800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr19:43239800-43240400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:43239800-43242000	Enhancers	NH-A	brain
15	chr19:43239800-43242600	Enhancers	NHEK	skin
16	chr19:43240000-43240200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:43240000-43240200	Enhancers	HSMM	muscle
18	chr19:43240000-43240200	Enhancers	NHLF	lung
19	chr19:43240000-43241000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr19:43240000-43241200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr19:43240000-43242000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr19:43240200-43241000	Weak transcription	NHLF	lung
23	chr19:43240200-43241600	Weak transcription	HSMM	muscle
24	chr19:43240400-43240800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:43240400-43240800	Weak transcription	NHDF-Ad	bronchial
26	chr19:43240400-43241400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:43240400-43241800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:43240800-43242200	Enhancers	NHDF-Ad	bronchial
29	chr19:43240800-43242400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:43241000-43241400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:43241000-43242000	Enhancers	NHLF	lung
32	chr19:43241400-43242000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:43241400-43242200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr19:43241600-43242000	Enhancers	HSMM	muscle
35	chr19:43241600-43243400	Transcr. at gene 5' and 3'	Placenta	Placenta
36	chr19:43241800-43242200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr19:43242800-43243200	Active TSS	Brain Substantia Nigra	brain
38	chr19:43243400-43244600	Active TSS	Placenta	Placenta
39	chr19:43244400-43244600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:43244600-43245000	Weak transcription	Placenta	Placenta
41	chr19:43244600-43245600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:43245000-43246400	Enhancers	Placenta	Placenta
43	chr19:43245400-43245600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:43245600-43246400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:43252800-43253200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:43253000-43253200	Weak transcription	Placenta	Placenta
47	chr19:43253200-43254000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr19:43253200-43254000	Enhancers	Placenta	Placenta
49	chr19:43254000-43261800	Weak transcription	Placenta	Placenta
50	chr19:43261800-43262600	Strong transcription	Placenta	Placenta

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