Variant report

Variant	esv3422017
Chromosome Location	chr19:41384512-41387760
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:41386211-41386665	K562	blood:	n/a	n/a
2	CTCF	chr19:41386288-41386587	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr19:41386284-41386617	K562	blood:	n/a	n/a
4	CTCF	chr19:41386312-41386552	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr19:41387561-41387588	LNCaP	prostate:	n/a	n/a
6	CTCF	chr19:41386384-41386566	K562	blood:	n/a	n/a
7	CTCF	chr19:41386320-41386470	HEK293	kidney:	n/a	n/a
8	CTCF	chr19:41386233-41386588	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr19:41386434-41386449	K562	blood:	n/a	n/a
10	CTCF	chr19:41386301-41386581	K562	blood:	n/a	n/a
11	GATA2	chr19:41387355-41387455	SH-SY5Y	brain:	n/a	chr19:41387370-41387377 chr19:41387370-41387380 chr19:41387368-41387378 chr19:41387370-41387377 chr19:41387368-41387377 chr19:41387370-41387377
12	MAX	chr19:41386259-41386608	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:41386273-41386431	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:41386101-41386269	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr19:41386159-41386584	H1-hESC	embryonic stem cell:	n/a	n/a
16	RAD21	chr19:41386294-41386634	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr19:41386302-41386499	K562	blood:	n/a	n/a
18	RAD21	chr19:41386373-41386596	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr19:41386283-41386608	H1-hESC	embryonic stem cell:	n/a	n/a
20	ZNF263	chr19:41384603-41384719	HEK293-T-REx	kidney:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41386507-41386557	HL-60	blood:	n/a
2	chr19:41386507-41386557	HL-60	blood:	n/a
3	chr19:41386507-41386557	MCF10A-Er-Src	breast:	n/a
4	chr19:41386507-41386557	SAEC	small airway:	n/a
5	chr19:41386507-41386557	BE2_C	brain:	n/a
6	chr19:41386507-41386557	HRCEpiC	kidney:	n/a
7	chr19:41386441-41386491	H1-hESC	embryonic stem cell:	embryo
8	chr19:41385865-41385915	NHDF-neo	bronchial:	n/a
9	chr19:41385865-41385915	NT2-D1	testis:	n/a
10	chr19:41385865-41385915	HUVEC	blood vessel:	n/a
11	chr19:41386507-41386557	NH-A	brain:	n/a
12	chr19:41386507-41386557	NHDF-neo	bronchial:	n/a
13	chr19:41386507-41386557	ProgFib	skin:	n/a
14	chr19:41386441-41386491	SK-N-SH_RA	brain:	n/a
15	chr19:41385865-41385915	T-47D	breast:	n/a
16	chr19:41385865-41385915	AG09319	gingival:	n/a
17	chr19:41386507-41386557	SK-N-SH	brain:	n/a
18	chr19:41386441-41386491	AG09319	gingival:	n/a
19	chr19:41385865-41385915	SK-N-SH_RA	brain:	n/a
20	chr19:41385865-41385915	PrEC	prostate:	n/a
21	chr19:41386441-41386491	GM12891	blood:	n/a
22	chr19:41386507-41386557	LNCaP	prostate:	n/a
23	chr19:41385865-41385915	HCT-116	colon:	n/a
24	chr19:41385865-41385915	Hepatocyte	liver:	n/a
25	chr19:41386507-41386557	SK-N-MC	brain:	n/a
26	chr19:41386441-41386491	T-47D	breast:	n/a
27	chr19:41385865-41385915	ProgFib	skin:	n/a
28	chr19:41386507-41386557	HRPEpiC	eye:	n/a
29	chr19:41385865-41385915	H1-hESC	embryonic stem cell:	embryo
30	chr19:41386441-41386491	HNPCEpiC	eye:	n/a
31	chr19:41385865-41385915	AG04450	lung:	fetal
32	chr19:41385865-41385915	AoSMC	blood vessel:	n/a
33	chr19:41386507-41386557	PrEC	prostate:	n/a
34	chr19:41386441-41386491	AG04450	lung:	fetal
35	chr19:41386507-41386557	HMEC	breast:	n/a
36	chr19:41386441-41386491	U87	brain:	n/a
37	chr19:41386441-41386491	GM12878	blood:	n/a
38	chr19:41386507-41386557	HepG2	liver:	n/a
39	chr19:41385865-41385915	HCM	heart:	n/a
40	chr19:41385865-41385915	AG10803	skin:	n/a
41	chr19:41386507-41386557	MCF-7	breast:	n/a
42	chr19:41386441-41386491	HRE	kidney:	n/a
43	chr19:41385865-41385915	HMEC	breast:	n/a
44	chr19:41386507-41386557	SK-N-SH_RA	brain:	n/a
45	chr19:41386441-41386491	HEEpiC	esophagus:	n/a
46	chr19:41385865-41385915	GM12878	blood:	n/a
47	chr19:41386507-41386557	Jurkat	blood:	n/a
48	chr19:41385865-41385915	ECC-1	luminal epithelium:	n/a
49	chr19:41386441-41386491	A549	lung:	n/a
50	chr19:41385865-41385915	RPTEC	kidney:	n/a

No data

Variant related genes	Relation type
CYP2A7	TF binding region
CYP2A7	CpG island

Extended variants
information (count: 275 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546871198	chr19:41384521-41384522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113986398	chr19:41384533-41384534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535417801	chr19:41384542-41384543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144617542	chr19:41384569-41384570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568938238	chr19:41384577-41384578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4453619	chr19:41384578-41384579	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs147884612	chr19:41384589-41384590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553233666	chr19:41384630-41384631	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs4079367	chr19:41384637-41384638	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs191003934	chr19:41384644-41384645	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs372855525	chr19:41384647-41384648	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs369173002	chr19:41384648-41384649	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs575296850	chr19:41384659-41384660	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs140346884	chr19:41384668-41384669	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564470109	chr19:41384673-41384674	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs4079366	chr19:41384675-41384676	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs540089737	chr19:41384676-41384677	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs141169022	chr19:41384686-41384687	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372835097	chr19:41384689-41384690	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs534092727	chr19:41384691-41384692	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs186817628	chr19:41384692-41384693	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs117539170	chr19:41384702-41384703	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs374712130	chr19:41384724-41384725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568874033	chr19:41384743-41384744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140403519	chr19:41384760-41384761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369508713	chr19:41384764-41384765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551444191	chr19:41384769-41384770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112946838	chr19:41384781-41384782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191637615	chr19:41384786-41384787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146496348	chr19:41384798-41384799	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373269963	chr19:41384811-41384812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149073318	chr19:41384821-41384822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs140997835	chr19:41384822-41384823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535758188	chr19:41384838-41384839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145739973	chr19:41384841-41384842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370478567	chr19:41384871-41384872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375259444	chr19:41384883-41384884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368143024	chr19:41384885-41384886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575591454	chr19:41384914-41384915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183421221	chr19:41384956-41384957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375655919	chr19:41384967-41384968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs538519437	chr19:41385030-41385031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573277855	chr19:41385031-41385032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs2431407	chr19:41385061-41385062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs12981337	chr19:41385115-41385116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4803389	chr19:41385132-41385133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs529154733	chr19:41385183-41385184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544511938	chr19:41385187-41385188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562809201	chr19:41385201-41385202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532923946	chr19:41385223-41385224	Weak transcription	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
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
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
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41382600-41386200	Weak transcription	Lung	lung
2	chr19:41383200-41387000	Weak transcription	Liver	Liver
3	chr19:41384400-41384800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:41385600-41386000	Weak transcription	Ovary	ovary
5	chr19:41386000-41386200	Enhancers	Ovary	ovary
6	chr19:41386200-41386400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr19:41386200-41386600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr19:41386200-41386600	Enhancers	Lung	lung
9	chr19:41386200-41386600	Flanking Active TSS	Ovary	ovary
10	chr19:41386400-41386600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr19:41386400-41386600	Enhancers	Adipose Nuclei	Adipose
12	chr19:41386400-41386600	Bivalent Enhancer	Fetal Intestine Small	intestine
13	chr19:41386400-41386600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr19:41386400-41387000	Bivalent Enhancer	Fetal Intestine Large	intestine
15	chr19:41386600-41387800	Weak transcription	Lung	lung
16	chr19:41386800-41387000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:41387000-41387200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr19:41387000-41388400	Enhancers	Fetal Intestine Large	intestine
19	chr19:41387000-41389800	Enhancers	Liver	Liver

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