Variant report

Variant	esv2760517
Chromosome Location	chr19:39530012-39544234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:352)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr19:39536758-39537053	K562	blood:	n/a	n/a
2	ATF3	chr19:39542833-39543390	A549	lung:	n/a	n/a
3	ATF3	chr19:39542898-39543549	A549	lung:	n/a	n/a
4	BCL3	chr19:39542804-39543617	A549	lung:	n/a	n/a
5	BHLHE40	chr19:39543041-39543117	K562	blood:	n/a	n/a
6	BHLHE40	chr19:39536675-39536858	K562	blood:	n/a	n/a
7	BHLHE40	chr19:39542967-39543235	A549	lung:	n/a	n/a
8	BRCA1	chr19:39542979-39543093	Hela-S3	cervix:	n/a	n/a
9	CBX3	chr19:39532193-39532534	K562	blood:	n/a	n/a
10	CEBPB	chr19:39542971-39543154	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr19:39536771-39536840	K562	blood:	n/a	n/a
12	CHD2	chr19:39543016-39543167	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr19:39543341-39543390	K562	blood:	n/a	n/a
14	CTCF	chr19:39542980-39543130	HepG2	liver:	n/a	n/a
15	CTCF	chr19:39542923-39543216	MCF-7	breast:	n/a	n/a
16	CTCF	chr19:39543000-39543150	A549	lung:	n/a	n/a
17	CTCF	chr19:39541880-39542030	GM12871	blood:	n/a	n/a
18	CTCF	chr19:39543020-39543170	Caco-2	colon:	n/a	n/a
19	CTCF	chr19:39542936-39543195	Pancreas_OC	pancreas:	n/a	n/a
20	CTCF	chr19:39542906-39543392	K562	blood:	n/a	n/a
21	CTCF	chr19:39542960-39543110	HCPEpiC	choroid plexus:	n/a	n/a
22	CTCF	chr19:39543000-39543150	AG04449	skin:	n/a	n/a
23	CTCF	chr19:39542925-39543211	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr19:39542918-39543374	MCF-7	breast:	n/a	n/a
25	CTCF	chr19:39543380-39543530	GM12872	blood:	n/a	n/a
26	CTCF	chr19:39542907-39543280	K562	blood:	n/a	n/a
27	CTCF	chr19:39542960-39543110	GM12801	blood:	n/a	n/a
28	CTCF	chr19:39542939-39543228	Medullo	brain:	n/a	n/a
29	CTCF	chr19:39542919-39543220	MCF-7	breast:	n/a	n/a
30	CTCF	chr19:39543000-39543150	NHEK	skin:	n/a	n/a
31	CTCF	chr19:39542950-39543211	GM20000	blood:	n/a	n/a
32	CTCF	chr19:39543020-39543170	GM12870	blood:	n/a	n/a
33	CTCF	chr19:39543400-39543550	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr19:39542916-39543271	GM19240	blood:	n/a	n/a
35	CTCF	chr19:39543060-39543210	GM12872	blood:	n/a	n/a
36	CTCF	chr19:39542560-39542710	SAEC	small airway:	n/a	n/a
37	CTCF	chr19:39543020-39543170	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr19:39542980-39543130	AG10803	skin:	n/a	n/a
39	CTCF	chr19:39542927-39543203	GM13977	blood:	n/a	n/a
40	CTCF	chr19:39542960-39543110	GM12864	blood:	n/a	n/a
41	CTCF	chr19:39542909-39543326	MCF-7	breast:	n/a	n/a
42	CTCF	chr19:39543000-39543150	GM12874	blood:	n/a	n/a
43	CTCF	chr19:39542902-39543238	GM12892	blood:	n/a	n/a
44	CTCF	chr19:39543080-39543230	HCM	heart:	n/a	n/a
45	CTCF	chr19:39542980-39543130	GM12867	blood:	n/a	n/a
46	CTCF	chr19:39542690-39543471	SK-N-SH	brain:	n/a	n/a
47	CTCF	chr19:39542980-39543130	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr19:39542440-39542590	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr19:39542220-39542370	AoAF	blood vessel:	n/a	n/a
50	CTCF	chr19:39542931-39543178	Kidney_OC	kidney:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39522295..39523922-chr19:39537003..39539265,2	K562	blood:
2	chr19:39528736..39531074-chr19:39534796..39537090,2	K562	blood:
3	chr19:39531425..39533053-chr19:39537325..39539768,2	MCF-7	breast:
4	chr19:39521025..39525658-chr19:39535006..39538345,5	MCF-7	breast:
5	chr19:39536592..39538414-chr19:39541757..39543284,2	MCF-7	breast:
6	chr19:39527434..39530385-chr19:39532161..39533802,2	K562	blood:
7	chr19:39542598..39543558-chr19:39574352..39575276,2	MCF-7	breast:
8	chr19:39542686..39543478-chr19:39600712..39601594,2	MCF-7	breast:
9	chr19:39527434..39530385-chr19:39532161..39533802,2	K562	blood:
10	chr19:39519101..39521598-chr19:39532998..39534703,2	K562	blood:
11	chr19:39543748..39546255-chr19:39599767..39602313,2	MCF-7	breast:
12	chr19:39531425..39533053-chr19:39537325..39539768,2	MCF-7	breast:
13	chr19:39536592..39538414-chr19:39541757..39543284,2	MCF-7	breast:
14	chr19:39528736..39531074-chr19:39534796..39537090,2	K562	blood:
15	chr19:39521423..39523663-chr19:39535001..39537936,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251709	TF binding region
ENSG00000161243	chromatin interactions
ENSG00000183760	chromatin interactions
ENSG00000267992	chromatin interactions

Extended variants
information (count: 665 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:665 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10424632	chr19:39530012-39530013	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs578175845	chr19:39530020-39530021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575875998	chr19:39530034-39530035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10424827	chr19:39530096-39530097	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs560666117	chr19:39530097-39530098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527791007	chr19:39530127-39530128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138745251	chr19:39530143-39530144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377294041	chr19:39530177-39530178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201222980	chr19:39530179-39530180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151268171	chr19:39530182-39530183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367879536	chr19:39530195-39530196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139170903	chr19:39530196-39530197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561143067	chr19:39530302-39530303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531705599	chr19:39530323-39530324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549888903	chr19:39530354-39530355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58388175	chr19:39530356-39530357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs59042960	chr19:39530357-39530358	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs55864334	chr19:39530378-39530379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569170172	chr19:39530413-39530414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539347473	chr19:39530424-39530425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551162113	chr19:39530425-39530426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117605227	chr19:39530439-39530440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533656482	chr19:39530452-39530453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149928366	chr19:39530537-39530538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573632725	chr19:39530545-39530546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs75061366	chr19:39530583-39530584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555877815	chr19:39530634-39530635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs35988637	chr19:39530644-39530645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141984235	chr19:39530645-39530646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs578229722	chr19:39530648-39530649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397783242	chr19:39530650-39530651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545670952	chr19:39530668-39530669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34594441	chr19:39530724-39530725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560678509	chr19:39530725-39530726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372647427	chr19:39530775-39530776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182960911	chr19:39530818-39530819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144978874	chr19:39530819-39530820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs487356	chr19:39530839-39530840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs546649995	chr19:39530845-39530846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531699982	chr19:39530880-39530881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187477119	chr19:39530909-39530910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs565043032	chr19:39530923-39530924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145650067	chr19:39530932-39530933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190048298	chr19:39530997-39530998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375940052	chr19:39531003-39531004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs551248241	chr19:39531004-39531005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182684530	chr19:39531023-39531024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146100952	chr19:39531029-39531030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1626050	chr19:39531034-39531035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs567364637	chr19:39531049-39531050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	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
Breast cancer	21509527	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39523400-39535400	Weak transcription	Right Atrium	heart
2	chr19:39526800-39531400	Enhancers	Fetal Intestine Large	intestine
3	chr19:39528600-39530800	Enhancers	Fetal Intestine Small	intestine
4	chr19:39530000-39530800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr19:39530800-39543000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:39535400-39538800	Enhancers	Fetal Intestine Large	intestine
7	chr19:39535400-39538800	Enhancers	Fetal Intestine Small	intestine
8	chr19:39535800-39538800	Enhancers	Duodenum Mucosa	Duodenum
9	chr19:39536200-39536400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr19:39536200-39536400	Active TSS	HepG2	liver
11	chr19:39536200-39536400	Enhancers	K562	blood
12	chr19:39536200-39536600	Enhancers	A549	lung
13	chr19:39536400-39536600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr19:39536400-39536800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr19:39536400-39536800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr19:39536400-39536800	Flanking Bivalent TSS/Enh	HepG2	liver
17	chr19:39536400-39537200	Enhancers	Placenta	Placenta
18	chr19:39536400-39537200	Enhancers	Hela-S3	cervix
19	chr19:39536400-39537400	Flanking Active TSS	K562	blood
20	chr19:39536400-39538200	Enhancers	Stomach Mucosa	stomach
21	chr19:39536600-39536800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr19:39536600-39537000	Flanking Active TSS	A549	lung
23	chr19:39536600-39537400	Enhancers	GM12878-XiMat	blood
24	chr19:39536600-39537600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:39536800-39537000	Bivalent Enhancer	HepG2	liver
26	chr19:39536800-39537200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr19:39536800-39537400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
28	chr19:39537000-39537200	Enhancers	HepG2	liver
29	chr19:39537000-39537600	Enhancers	A549	lung
30	chr19:39537200-39541800	Weak transcription	HepG2	liver
31	chr19:39537400-39538600	Enhancers	K562	blood
32	chr19:39537600-39543000	Weak transcription	A549	lung
33	chr19:39538800-39542200	Weak transcription	Fetal Intestine Large	intestine
34	chr19:39538800-39543000	Weak transcription	Fetal Intestine Small	intestine
35	chr19:39541200-39546400	Weak transcription	Right Atrium	heart
36	chr19:39541800-39542400	Enhancers	HepG2	liver
37	chr19:39541800-39543200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr19:39542000-39542200	Enhancers	Brain Hippocampus Middle	brain
39	chr19:39542200-39543200	Weak transcription	Brain Hippocampus Middle	brain
40	chr19:39542200-39546600	Enhancers	Fetal Intestine Large	intestine
41	chr19:39542400-39542800	Weak transcription	HepG2	liver
42	chr19:39542800-39544000	Enhancers	HepG2	liver
43	chr19:39543000-39543200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:39543000-39543400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:39543000-39543400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
46	chr19:39543000-39543400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:39543000-39543400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:39543000-39543400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr19:39543000-39543400	Enhancers	HMEC	breast
50	chr19:39543000-39543400	Enhancers	NHEK	skin

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