Variant report

Variant	esv1815960
Chromosome Location	chr19:35856422-35866793
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:153)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:153 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:35865850-35866169	K562	blood:	n/a	n/a
2	ATF1	chr19:35865921-35866194	K562	blood:	n/a	n/a
3	ATF3	chr19:35865963-35866126	K562	blood:	n/a	n/a
4	ATF3	chr19:35865822-35866257	K562	blood:	n/a	n/a
5	BHLHE40	chr19:35865989-35866016	GM12878	blood:	n/a	n/a
6	BHLHE40	chr19:35865883-35866242	K562	blood:	n/a	n/a
7	CBX3	chr19:35865901-35866279	K562	blood:	n/a	n/a
8	CEBPB	chr19:35861320-35861547	K562	blood:	n/a	chr19:35861400-35861411
9	CEBPB	chr19:35861266-35861524	A549	lung:	n/a	chr19:35861400-35861411
10	CEBPB	chr19:35861291-35861545	IMR90	lung:	n/a	chr19:35861400-35861411
11	CEBPB	chr19:35864457-35864718	HepG2	liver:	n/a	n/a
12	CEBPB	chr19:35861294-35861521	HepG2	liver:	n/a	chr19:35861400-35861411
13	CEBPB	chr19:35864499-35864730	K562	blood:	n/a	n/a
14	CTCF	chr19:35862357-35862469	NHEK	skin:	n/a	n/a
15	CTCF	chr19:35862313-35862536	GM19240	blood:	n/a	n/a
16	CTCF	chr19:35862325-35862487	K562	blood:	n/a	n/a
17	CTCF	chr19:35862440-35862488	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr19:35862400-35862454	GM20000	blood:	n/a	n/a
19	CTCF	chr19:35862487-35862490	MCF-7	breast:	n/a	n/a
20	CTCF	chr19:35862296-35862574	GM19239	blood:	n/a	n/a
21	CTCF	chr19:35862361-35862470	MCF-7	breast:	n/a	n/a
22	CTCF	chr19:35862626-35862782	GM12891	blood:	n/a	n/a
23	CTCF	chr19:35862340-35862508	A549	lung:	n/a	n/a
24	CTCF	chr19:35865920-35866070	HRE	kidney:	n/a	n/a
25	CTCF	chr19:35862323-35862373	GM20000	blood:	n/a	n/a
26	CTCF	chr19:35862319-35862524	Gliobla	brain:	n/a	n/a
27	CTCF	chr19:35862387-35862486	MCF-7	breast:	n/a	n/a
28	CTCF	chr19:35862431-35862518	GM13976	blood:	n/a	n/a
29	CTCF	chr19:35862518-35862521	Fibrobl	skin:	n/a	n/a
30	CTCF	chr19:35862336-35862493	MCF-7	breast:	n/a	n/a
31	CTCF	chr19:35862640-35862675	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr19:35862100-35862172	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr19:35862239-35862573	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr19:35862524-35862566	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr19:35862328-35862517	Fibrobl	skin:	n/a	n/a
36	CTCF	chr19:35862354-35862478	MCF-7	breast:	n/a	n/a
37	CTCF	chr19:35862308-35862525	GM12892	blood:	n/a	n/a
38	CTCF	chr19:35862351-35862447	HepG2	liver:	n/a	n/a
39	CTCF	chr19:35862332-35862460	GM12878	blood:	n/a	n/a
40	CTCF	chr19:35862297-35862532	MCF-7	breast:	n/a	n/a
41	CTCF	chr19:35862198-35862537	K562	blood:	n/a	n/a
42	CTCF	chr19:35862244-35862528	K562	blood:	n/a	n/a
43	CTCF	chr19:35862115-35862183	GM13976	blood:	n/a	n/a
44	CTCF	chr19:35862354-35862464	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr19:35862417-35862550	GM13977	blood:	n/a	n/a
46	CTCF	chr19:35862329-35862490	GM19238	blood:	n/a	n/a
47	CTCF	chr19:35862259-35862545	GM12891	blood:	n/a	n/a
48	CUX1	chr19:35865956-35866005	GM12878	blood:	n/a	n/a
49	EBF1	chr19:35862613-35862922	GM12878	blood:	n/a	n/a
50	EBF1	chr19:35865784-35865786	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:35861862-35861912	NB4	blood:	n/a
2	chr19:35861862-35861912	SAEC	small airway:	n/a
3	chr19:35861862-35861912	AG09319	gingival:	n/a
4	chr19:35861862-35861912	HepG2	liver:	n/a
5	chr19:35861862-35861912	HRE	kidney:	n/a
6	chr19:35861862-35861912	PANC-1	pancreas:	n/a
7	chr19:35861862-35861912	GM06990	blood:	n/a
8	chr19:35861862-35861912	A549	lung:	n/a
9	chr19:35861862-35861912	HEEpiC	esophagus:	n/a
10	chr19:35861862-35861912	GM12878	blood:	n/a
11	chr19:35861862-35861912	Jurkat	blood:	n/a
12	chr19:35861862-35861912	HUVEC	blood vessel:	n/a
13	chr19:35861862-35861912	H1-hESC	embryonic stem cell:	embryo
14	chr19:35861862-35861912	HRPEpiC	eye:	n/a
15	chr19:35861862-35861912	HCPEpiC	choroid plexus:	n/a
16	chr19:35861862-35861912	SKMC	muscle:	n/a
17	chr19:35861862-35861912	ProgFib	skin:	n/a
18	chr19:35861862-35861912	HNPCEpiC	eye:	n/a
19	chr19:35861862-35861912	GM12892	blood:	n/a
20	chr19:35861862-35861912	MCF-7	breast:	n/a
21	chr19:35861862-35861912	IMR90	lung:	fetal
22	chr19:35861862-35861912	NH-A	brain:	n/a
23	chr19:35861862-35861912	GM12891	blood:	n/a
24	chr19:35861862-35861912	PrEC	prostate:	n/a
25	chr19:35861862-35861912	SK-N-SH_RA	brain:	n/a
26	chr19:35861862-35861912	CMK	blood:	n/a
27	chr19:35861862-35861912	T-47D	breast:	n/a
28	chr19:35861862-35861912	AG09309	skin:	n/a
29	chr19:35861862-35861912	Hela-S3	cervix:	n/a
30	chr19:35861862-35861912	LNCaP	prostate:	n/a
31	chr19:35861862-35861912	NHBE	bronchial:	n/a
32	chr19:35861862-35861912	HAEpiC	amniotic membrane:	n/a
33	chr19:35861862-35861912	HL-60	blood:	n/a
34	chr19:35861862-35861912	HCM	heart:	n/a
35	chr19:35861862-35861912	SK-N-SH	brain:	n/a
36	chr19:35861862-35861912	Hepatocyte	liver:	n/a
37	chr19:35861862-35861912	HCT-116	colon:	n/a
38	chr19:35861862-35861912	BJ	skin:	n/a
39	chr19:35861862-35861912	HRCEpiC	kidney:	n/a
40	chr19:35861862-35861912	PFSK-1	brain:	n/a
41	chr19:35861862-35861912	AoSMC	blood vessel:	n/a
42	chr19:35861862-35861912	ovcar-3	ovarian:	n/a
43	chr19:35861862-35861912	HPAEpiC	pulmonary alveolar:	n/a
44	chr19:35861862-35861912	HIPEpiC	eye:	n/a
45	chr19:35861862-35861912	AG10803	skin:	n/a
46	chr19:35861862-35861912	AG04449	skin:	fetal
47	chr19:35861862-35861912	HEK293	kidney:	embryo
48	chr19:35861862-35861912	SK-N-MC	brain:	n/a
49	chr19:35861862-35861912	MCF10A-Er-Src	breast:	n/a
50	chr19:35861862-35861912	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr19:35866654..35868491-chr19:35868954..35871337,2	K562	blood:
2	chr19:35865310..35868154-chr19:35869837..35872073,2	K562	blood:
3	chr19:35864467..35867206-chr19:35939200..35941045,2	MCF-7	breast:
4	chr19:35847716..35849933-chr19:35855045..35856568,2	MCF-7	breast:

No data

Variant related genes	Relation type
GPR42	TF binding region
GPR42	CpG island
ENSG00000185897	chromatin interactions
ENSG00000126262	chromatin interactions

Extended variants
information (count: 243 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:243 , 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	rs575516273	chr19:35856430-35856431	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544508743	chr19:35856451-35856452	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112274436	chr19:35856458-35856459	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375632182	chr19:35856459-35856460	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530150430	chr19:35856467-35856468	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs540680735	chr19:35856496-35856497	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs558638741	chr19:35856503-35856504	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs560491154	chr19:35856557-35856558	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552554606	chr19:35856558-35856559	Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs8101971	chr19:35856570-35856571	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs552593715	chr19:35856596-35856597	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs10401894	chr19:35860422-35860423	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs4806139	chr19:35860458-35860459	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs55802006	chr19:35860462-35860463	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs571265023	chr19:35860495-35860496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs192527563	chr19:35860508-35860509	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs75694299	chr19:35860547-35860548	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs184801435	chr19:35860585-35860586	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs150424296	chr19:35860631-35860632	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138239795	chr19:35860635-35860636	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs544661220	chr19:35860648-35860649	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs569652713	chr19:35860661-35860662	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs117745285	chr19:35860672-35860673	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs2312584	chr19:35860689-35860690	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs551980006	chr19:35860699-35860700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs78095447	chr19:35860701-35860702	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs190002424	chr19:35860805-35860806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs77640168	chr19:35860816-35860817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs78070184	chr19:35861286-35861287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs567471205	chr19:35861317-35861318	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537097344	chr19:35861436-35861437	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs114061824	chr19:35861443-35861444	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs369726033	chr19:35861493-35861494	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs8103476	chr19:35861506-35861507	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs112640961	chr19:35861541-35861542	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs546398882	chr19:35861630-35861631	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs558728245	chr19:35861642-35861643	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs10652244	chr19:35861651-35861652	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs10651644	chr19:35861652-35861653	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372771664	chr19:35861653-35861654	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs397813321	chr19:35861654-35861655	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200728205	chr19:35861656-35861657	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs370397611	chr19:35861689-35861690	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs11881816	chr19:35861695-35861696	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs12973766	chr19:35861715-35861716	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs112288237	chr19:35861718-35861719	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs543890872	chr19:35861720-35861721	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs560908307	chr19:35861771-35861772	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs187268583	chr19:35861862-35861863	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs567614052	chr19:35861875-35861876	Inactive region	CpG island	1 gene(s)	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
Pleomorphic liposarcoma	18784837	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
Ovarian cancer	21397856	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Neurodevelopmental disorder	22521361	CNVD
Endometrial cancer	23636398	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	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
Gastric cancer	21811585	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35856400-35856600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
2	chr19:35864200-35864400	Enhancers	GM12878-XiMat	blood
3	chr19:35864200-35865800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr19:35864400-35864600	Bivalent Enhancer	K562	blood
5	chr19:35864400-35865400	Weak transcription	GM12878-XiMat	blood
6	chr19:35865000-35867200	Enhancers	K562	blood
7	chr19:35865200-35866000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
8	chr19:35865200-35866600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr19:35865400-35867200	Enhancers	Stomach Mucosa	stomach
10	chr19:35865400-35869000	Enhancers	GM12878-XiMat	blood
11	chr19:35865600-35866200	Enhancers	Ovary	ovary
12	chr19:35865600-35866400	Enhancers	HepG2	liver
13	chr19:35865800-35866000	Bivalent Enhancer	A549	lung
14	chr19:35865800-35870200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:35866000-35867000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr19:35866200-35866800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:35866400-35866800	Weak transcription	HepG2	liver
18	chr19:35866400-35868400	Enhancers	Primary B cells from peripheral blood	blood

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