Variant report

Variant	esv1008734
Chromosome Location	chr19:40337724-40338205
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	ARID3A	chr19:40337324-40337798	K562	blood:	n/a	n/a
2	BCL3	chr19:40335911-40337944	A549	lung:	n/a	chr19:40337140-40337153 chr19:40337204-40337213
3	BHLHE40	chr19:40336310-40337948	K562	blood:	n/a	n/a
4	CBX3	chr19:40336761-40338029	K562	blood:	n/a	n/a
5	CEBPB	chr19:40338022-40338258	K562	blood:	n/a	chr19:40338126-40338139 chr19:40338126-40338137 chr19:40338128-40338137
6	CEBPB	chr19:40338017-40338406	HepG2	liver:	n/a	chr19:40338126-40338139 chr19:40338126-40338137 chr19:40338128-40338137
7	CEBPB	chr19:40338002-40338294	IMR90	lung:	n/a	chr19:40338126-40338139 chr19:40338126-40338137 chr19:40338128-40338137
8	CEBPD	chr19:40336651-40338130	K562	blood:	n/a	n/a
9	CTCF	chr19:40334289-40338535	A549	lung:	n/a	chr19:40336774-40336782 chr19:40336634-40336647
10	E2F6	chr19:40336088-40337728	A549	lung:	n/a	chr19:40336371-40336378 chr19:40336371-40336378 chr19:40336367-40336379 chr19:40337100-40337109 chr19:40336368-40336379 chr19:40337021-40337030 chr19:40336371-40336378
11	E2F6	chr19:40336116-40337933	H1-hESC	embryonic stem cell:	n/a	chr19:40336371-40336378 chr19:40336371-40336378 chr19:40336367-40336379 chr19:40337100-40337109 chr19:40336368-40336379 chr19:40337021-40337030 chr19:40336371-40336378
12	ELF1	chr19:40337573-40337962	K562	blood:	n/a	n/a
13	EP300	chr19:40337190-40337978	K562	blood:	n/a	n/a
14	FOSL2	chr19:40336456-40337736	A549	lung:	n/a	n/a
15	FOXA1	chr19:40338143-40338479	HepG2	liver:	n/a	n/a
16	FOXA1	chr19:40338108-40338439	HepG2	liver:	n/a	n/a
17	FOXA1	chr19:40338078-40338490	HepG2	liver:	n/a	n/a
18	FOXA1	chr19:40338131-40338507	T-47D	breast:	n/a	n/a
19	FOXA1	chr19:40338044-40338573	HepG2	liver:	n/a	n/a
20	FOXA2	chr19:40338133-40338513	HepG2	liver:	n/a	n/a
21	GABPA	chr19:40337553-40337877	K562	blood:	n/a	n/a
22	GATA2	chr19:40337555-40337985	K562	blood:	n/a	n/a
23	GATA2	chr19:40337460-40338016	K562	blood:	n/a	n/a
24	GATA3	chr19:40338112-40338688	MCF-7	breast:	n/a	n/a
25	HCFC1	chr19:40336050-40338190	Hela-S3	cervix:	n/a	n/a
26	HCFC1	chr19:40336735-40337870	K562	blood:	n/a	n/a
27	HDAC2	chr19:40337606-40337930	K562	blood:	n/a	n/a
28	IRF1	chr19:40336420-40337941	K562	blood:	n/a	chr19:40337204-40337224 chr19:40337206-40337220 chr19:40336845-40336859 chr19:40337275-40337292 chr19:40337061-40337075
29	IRF1	chr19:40336786-40337955	K562	blood:	n/a	chr19:40337204-40337224 chr19:40337206-40337220 chr19:40336845-40336859 chr19:40337275-40337292 chr19:40337061-40337075
30	JUND	chr19:40336862-40337907	K562	blood:	n/a	n/a
31	MAFK	chr19:40337082-40337921	K562	blood:	n/a	n/a
32	MAX	chr19:40336027-40337737	A549	lung:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
33	MAX	chr19:40337600-40337883	K562	blood:	n/a	n/a
34	MAX	chr19:40336208-40337914	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
35	MAX	chr19:40337564-40338012	K562	blood:	n/a	n/a
36	MAX	chr19:40334506-40337825	A549	lung:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
37	MAZ	chr19:40337601-40337962	K562	blood:	n/a	n/a
38	MXI1	chr19:40336790-40337905	K562	blood:	n/a	n/a
39	MXI1	chr19:40335904-40338023	SK-N-SH	brain:	n/a	n/a
40	MYC	chr19:40336719-40338032	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
41	MYC	chr19:40336050-40337953	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
42	MYC	chr19:40336360-40337904	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
43	MYC	chr19:40336192-40338009	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
44	MYC	chr19:40334790-40338257	A549	lung:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
45	MYC	chr19:40336277-40338032	K562	blood:	n/a	chr19:40337007-40337014 chr19:40337006-40337015
46	NR2F2	chr19:40336195-40338018	K562	blood:	n/a	n/a
47	NRF1	chr19:40336689-40337865	SK-N-SH	brain:	n/a	chr19:40337020-40337034 chr19:40337096-40337110 chr19:40337020-40337031 chr19:40337020-40337031 chr19:40337099-40337113 chr19:40337099-40337110 chr19:40337027-40337036
48	PML	chr19:40336704-40337871	K562	blood:	n/a	n/a
49	PML	chr19:40337545-40337992	K562	blood:	n/a	n/a
50	POLR2A	chr19:40337717-40337757	ProgFib	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40338074-40338124	HAEpiC	amniotic membrane:	n/a
2	chr19:40338074-40338124	T-47D	breast:	n/a
3	chr19:40338074-40338124	HRCEpiC	kidney:	n/a
4	chr19:40338074-40338124	HCPEpiC	choroid plexus:	n/a
5	chr19:40338074-40338124	U87	brain:	n/a
6	chr19:40338074-40338124	GM12878	blood:	n/a
7	chr19:40338074-40338124	ovcar-3	ovarian:	n/a
8	chr19:40338074-40338124	PrEC	prostate:	n/a
9	chr19:40338074-40338124	GM12891	blood:	n/a
10	chr19:40338074-40338124	CMK	blood:	n/a
11	chr19:40338074-40338124	SKMC	muscle:	n/a
12	chr19:40338074-40338124	RPTEC	kidney:	n/a
13	chr19:40338074-40338124	NB4	blood:	n/a
14	chr19:40338074-40338124	PFSK-1	brain:	n/a
15	chr19:40338074-40338124	NH-A	brain:	n/a
16	chr19:40338074-40338124	HEEpiC	esophagus:	n/a
17	chr19:40338074-40338124	AG09319	gingival:	n/a
18	chr19:40338074-40338124	HRE	kidney:	n/a
19	chr19:40338074-40338124	AG10803	skin:	n/a
20	chr19:40338074-40338124	PANC-1	pancreas:	n/a
21	chr19:40338074-40338124	ProgFib	skin:	n/a
22	chr19:40338074-40338124	Hela-S3	cervix:	n/a
23	chr19:40338074-40338124	BE2_C	brain:	n/a
24	chr19:40338074-40338124	BJ	skin:	n/a
25	chr19:40338074-40338124	AoSMC	blood vessel:	n/a
26	chr19:40338074-40338124	NHBE	bronchial:	n/a
27	chr19:40338074-40338124	K562	blood:	n/a
28	chr19:40338074-40338124	HCF	heart:	n/a
29	chr19:40338074-40338124	H1-hESC	embryonic stem cell:	embryo
30	chr19:40338074-40338124	GM12892	blood:	n/a
31	chr19:40338074-40338124	SK-N-SH	brain:	n/a
32	chr19:40338074-40338124	HUVEC	blood vessel:	n/a
33	chr19:40338074-40338124	Jurkat	blood:	n/a
34	chr19:40338074-40338124	Hepatocyte	liver:	n/a
35	chr19:40338074-40338124	HEK293	kidney:	embryo
36	chr19:40338074-40338124	GM06990	blood:	n/a
37	chr19:40338074-40338124	HL-60	blood:	n/a
38	chr19:40338074-40338124	ECC-1	luminal epithelium:	n/a
39	chr19:40338074-40338124	NT2-D1	testis:	n/a
40	chr19:40338074-40338124	HRPEpiC	eye:	n/a
41	chr19:40338074-40338124	AG04450	lung:	fetal
42	chr19:40338074-40338124	HMEC	breast:	n/a
43	chr19:40338074-40338124	LNCaP	prostate:	n/a
44	chr19:40338074-40338124	MCF-7	breast:	n/a
45	chr19:40338074-40338124	MCF10A-Er-Src	breast:	n/a
46	chr19:40338074-40338124	AG09309	skin:	n/a
47	chr19:40338074-40338124	SK-N-MC	brain:	n/a
48	chr19:40338074-40338124	IMR90	lung:	fetal
49	chr19:40338074-40338124	NHDF-neo	bronchial:	n/a
50	chr19:40338074-40338124	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40327985..40330266-chr19:40338198..40340868,2	MCF-7	breast:
2	chr19:40330455..40332873-chr19:40336316..40338752,3	MCF-7	breast:
3	chr19:40337506..40339114-chr19:40356435..40358897,2	MCF-7	breast:
4	chr19:40337126..40339206-chr19:40352976..40355937,2	K562	blood:
5	chr19:40321340..40326326-chr19:40333108..40338214,12	MCF-7	breast:
6	chr19:40322842..40325581-chr19:40335629..40338491,6	MCF-7	breast:
7	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
8	chr19:40337132..40339013-chr19:40340235..40342919,2	MCF-7	breast:
9	chr19:39926041..39928299-chr19:40334872..40337810,2	MCF-7	breast:
10	chr19:39925314..39927864-chr19:40336547..40338108,2	K562	blood:
11	chr19:40327506..40332289-chr19:40333216..40337866,9	MCF-7	breast:
12	chr19:40338036..40340893-chr19:40348527..40351769,3	MCF-7	breast:
13	chr19:40294943..40296744-chr19:40337305..40340033,2	MCF-7	breast:

Variant related genes	Relation type
FBL	TF binding region
FBL	CpG island
ENSG00000105193	chromatin interactions
ENSG00000105204	chromatin interactions
ENSG00000013275	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000196235	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527369107	chr19:40337735-40337736	Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs140082187	chr19:40337763-40337764	Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs113596244	chr19:40337774-40337775	Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs182274321	chr19:40337790-40337791	Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs553474373	chr19:40337808-40337809	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs531492401	chr19:40337841-40337842	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs549807577	chr19:40337899-40337900	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs553980500	chr19:40337925-40337926	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs573062130	chr19:40337936-40337937	Flanking Active TSS Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs571514946	chr19:40338027-40338028	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs12986238	chr19:40338048-40338049	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs558116761	chr19:40338068-40338069	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs188063810	chr19:40338074-40338075	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs532419846	chr19:40338116-40338117	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs534050476	chr19:40338122-40338123	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs555407426	chr19:40338131-40338132	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs573906749	chr19:40338153-40338154	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs12972914	chr19:40338188-40338189	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs554527116	chr19:40338200-40338201	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Lung cancer	21569311	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
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40334800-40337800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:40335800-40337800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr19:40335800-40338000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr19:40336000-40337800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr19:40336200-40337800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr19:40336600-40337800	Active TSS	Brain Anterior Caudate	brain
7	chr19:40336600-40337800	Active TSS	Colonic Mucosa	Colon
8	chr19:40336600-40338400	Active TSS	Stomach Mucosa	stomach
9	chr19:40337200-40337800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr19:40337200-40337800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr19:40337200-40337800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:40337200-40337800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr19:40337200-40337800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr19:40337200-40337800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr19:40337200-40337800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr19:40337200-40337800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:40337200-40337800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr19:40337200-40337800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr19:40337200-40337800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr19:40337200-40337800	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr19:40337200-40337800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr19:40337200-40337800	Enhancers	Small Intestine	intestine
23	chr19:40337200-40337800	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr19:40337200-40337800	Flanking Active TSS	Thymus	Thymus
25	chr19:40337200-40337800	Flanking Active TSS	A549	lung
26	chr19:40337200-40337800	Flanking Active TSS	Dnd41	blood
27	chr19:40337200-40337800	Flanking Active TSS	Hela-S3	cervix
28	chr19:40337200-40337800	Flanking Active TSS	Osteobl	bone
29	chr19:40337200-40338000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr19:40337200-40338000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr19:40337200-40338000	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr19:40337200-40338000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr19:40337200-40338000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr19:40337200-40338000	Flanking Active TSS	HepG2	liver
35	chr19:40337200-40338000	Flanking Active TSS	NHEK	skin
36	chr19:40337200-40338200	Flanking Active TSS	K562	blood
37	chr19:40337200-40338400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr19:40337400-40337800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
39	chr19:40337400-40337800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr19:40337400-40337800	Flanking Active TSS	Brain Angular Gyrus	brain
41	chr19:40337400-40337800	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr19:40337400-40337800	Flanking Active TSS	Brain Substantia Nigra	brain
43	chr19:40337400-40337800	Enhancers	Esophagus	oesophagus
44	chr19:40337400-40338000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr19:40337400-40338000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr19:40337400-40338000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr19:40337400-40338000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:40337400-40338000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr19:40337400-40338000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:40337400-40338000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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