Variant report

Variant	esv11151
Chromosome Location	chr19:21749930-21766243
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:21756597-21757002	K562	blood:	n/a	n/a
2	ATF1	chr19:21756594-21757067	K562	blood:	n/a	n/a
3	ATF3	chr19:21756520-21757045	K562	blood:	n/a	n/a
4	BHLHE40	chr19:21756673-21757583	K562	blood:	n/a	n/a
5	CBX3	chr19:21756514-21757083	K562	blood:	n/a	n/a
6	CEBPB	chr19:21759510-21759606	K562	blood:	n/a	n/a
7	CEBPB	chr19:21756603-21757299	K562	blood:	n/a	n/a
8	CEBPB	chr19:21750808-21751049	K562	blood:	n/a	n/a
9	CEBPB	chr19:21750847-21750982	K562	blood:	n/a	n/a
10	CEBPB	chr19:21756680-21757218	K562	blood:	n/a	n/a
11	CEBPB	chr19:21756463-21757311	K562	blood:	n/a	n/a
12	CHD2	chr19:21752031-21752238	H1-hESC	embryonic stem cell:	n/a	n/a
13	CREB1	chr19:21756576-21757234	K562	blood:	n/a	n/a
14	CREB1	chr19:21756465-21757280	K562	blood:	n/a	n/a
15	CTCF	chr19:21757218-21757312	Lung_OC	lung:	n/a	n/a
16	CTCF	chr19:21764536-21764601	Kidney_OC	kidney:	n/a	n/a
17	CTCF	chr19:21764680-21764830	K562	blood:	n/a	n/a
18	CTCF	chr19:21764774-21764931	K562	blood:	n/a	n/a
19	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
20	CUX1	chr19:21759134-21759150	GM12878	blood:	n/a	n/a
21	CUX1	chr19:21756568-21756943	K562	blood:	n/a	n/a
22	E2F4	chr19:21750186-21750225	MCF10A-Er-Src	breast:	n/a	n/a
23	EGR1	chr19:21756699-21757045	K562	blood:	n/a	n/a
24	EGR1	chr19:21756687-21757036	K562	blood:	n/a	n/a
25	ELF1	chr19:21751794-21752441	MCF-7	breast:	n/a	n/a
26	ELF1	chr19:21751768-21752387	MCF-7	breast:	n/a	n/a
27	EP300	chr19:21756584-21757170	K562	blood:	n/a	n/a
28	EP300	chr19:21762482-21762569	GM12878	blood:	n/a	n/a
29	FOSL1	chr19:21756681-21757013	K562	blood:	n/a	chr19:21756822-21756833
30	FOSL1	chr19:21756741-21757060	K562	blood:	n/a	chr19:21756822-21756833
31	FOXA2	chr19:21750825-21751193	A549	lung:	n/a	n/a
32	GABPA	chr19:21751655-21752522	MCF-7	breast:	n/a	n/a
33	GABPA	chr19:21751741-21752336	MCF-7	breast:	n/a	n/a
34	HCFC1	chr19:21756670-21757018	K562	blood:	n/a	n/a
35	HEY1	chr19:21751782-21752096	K562	blood:	n/a	n/a
36	HEY1	chr19:21751803-21752127	HepG2	liver:	n/a	n/a
37	HEY1	chr19:21751841-21751988	HepG2	liver:	n/a	n/a
38	HEY1	chr19:21751817-21752053	K562	blood:	n/a	n/a
39	IRF1	chr19:21757706-21757716	K562	blood:	n/a	n/a
40	IRF1	chr19:21756643-21757004	K562	blood:	n/a	n/a
41	JUN	chr19:21755367-21755523	HepG2	liver:	n/a	chr19:21755447-21755460
42	JUN	chr19:21756645-21757073	K562	blood:	n/a	n/a
43	JUN	chr19:21756635-21757045	K562	blood:	n/a	n/a
44	JUN	chr19:21756654-21756875	HepG2	liver:	n/a	n/a
45	JUN	chr19:21757506-21757726	HepG2	liver:	n/a	chr19:21757615-21757628
46	JUN	chr19:21756402-21757858	K562	blood:	n/a	chr19:21757615-21757628
47	JUN	chr19:21756642-21756999	K562	blood:	n/a	n/a
48	JUN	chr19:21756636-21757082	K562	blood:	n/a	n/a
49	JUND	chr19:21756650-21756946	HepG2	liver:	n/a	chr19:21756822-21756833
50	JUND	chr19:21757443-21757767	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:
2	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:
3	chr19:21759399..21762531-chr19:21766206..21768542,3	K562	blood:
4	chr19:21759399..21762531-chr19:21766206..21768542,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF100-2	chr19:21762538-21762616	NONHSAT063727
2	lnc-ZNF100-8	chr19:21763358-21765406	NONHSAT063728
3	lnc-ZNF100-3	chr19:21751906-21752048	XLOC_013263
4	lnc-ZNF100-2	chr19:21753139-21754341	ENSG00000249473
5	lnc-ZNF100-2	chr19:21754050-21754341	NONHSAT063727
6	lnc-ZNF100-2	chr19:21752904-21754341	NONHSAT063726
7	lnc-ZNF100-3	chr19:21751906-21752039	ENSG00000268081.1
8	lnc-ZNF100-2	chr19:21753624-21754341	ENSG00000268555.1

No data

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 1041 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:1041 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73550337	chr19:21749942-21749943	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs73929319	chr19:21749973-21749974	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs559002570	chr19:21749986-21749987	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572888939	chr19:21749987-21749988	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs540420056	chr19:21750002-21750003	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs377724147	chr19:21750007-21750008	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs181749738	chr19:21750029-21750030	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs73025852	chr19:21750036-21750037	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113591272	chr19:21750041-21750042	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs111707828	chr19:21750051-21750052	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs114645782	chr19:21750058-21750059	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs12610883	chr19:21750059-21750060	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs11293392	chr19:21750064-21750065	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs555747131	chr19:21750065-21750066	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs377668377	chr19:21750070-21750071	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs368886593	chr19:21750072-21750073	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs116268215	chr19:21750074-21750075	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs147193307	chr19:21750084-21750085	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs73929320	chr19:21750099-21750100	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs115552967	chr19:21750113-21750114	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs114360386	chr19:21750115-21750116	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs73025855	chr19:21750127-21750128	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs73025858	chr19:21750132-21750133	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs562776300	chr19:21750151-21750152	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148676397	chr19:21750154-21750155	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs117860630	chr19:21750177-21750178	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs75655540	chr19:21750178-21750179	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs73550340	chr19:21750202-21750203	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs541899567	chr19:21750203-21750204	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs114093468	chr19:21750210-21750211	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs115088252	chr19:21750214-21750215	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs6511266	chr19:21750226-21750227	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11085462	chr19:21750251-21750252	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs552339366	chr19:21750255-21750256	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs56764276	chr19:21750261-21750262	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs34030929	chr19:21750262-21750263	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs73025862	chr19:21750279-21750280	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574962542	chr19:21750285-21750286	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142160450	chr19:21750287-21750288	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs36168893	chr19:21750290-21750291	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs116046720	chr19:21750307-21750308	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs36151394	chr19:21750318-21750319	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35412290	chr19:21750328-21750329	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs36172721	chr19:21750336-21750337	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs185500190	chr19:21750339-21750340	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs116397472	chr19:21750340-21750341	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146964938	chr19:21750345-21750346	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs536232526	chr19:21750347-21750348	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs372110740	chr19:21750352-21750353	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73025866	chr19:21750369-21750370	Weak transcription Active TSS Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	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
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21738000-21751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:21738600-21751600	Weak transcription	Osteobl	bone
3	chr19:21739400-21751200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr19:21740600-21750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:21742800-21750600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:21743200-21750400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr19:21743600-21751600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:21744800-21750600	Weak transcription	Colonic Mucosa	Colon
9	chr19:21744800-21750600	Weak transcription	Fetal Kidney	kidney
10	chr19:21745000-21750600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr19:21746600-21750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:21746600-21751200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr19:21746600-21751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:21746600-21751600	Weak transcription	Fetal Brain Male	brain
15	chr19:21746800-21750200	Weak transcription	Ovary	ovary
16	chr19:21746800-21750400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr19:21746800-21750600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr19:21746800-21750800	Weak transcription	Fetal Lung	lung
19	chr19:21747000-21750200	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr19:21747000-21750200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:21747000-21750400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr19:21747200-21751200	Weak transcription	Fetal Stomach	stomach
23	chr19:21747400-21750600	Enhancers	Fetal Intestine Large	intestine
24	chr19:21747800-21750400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr19:21748000-21750600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr19:21748200-21750400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:21748400-21751600	Weak transcription	Stomach Mucosa	stomach
28	chr19:21749000-21750600	Enhancers	Dnd41	blood
29	chr19:21749000-21751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:21749000-21751400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr19:21749200-21750000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr19:21749200-21750200	Enhancers	Fetal Intestine Small	intestine
33	chr19:21749200-21750400	Enhancers	Adipose Nuclei	Adipose
34	chr19:21749200-21750800	Weak transcription	Fetal Heart	heart
35	chr19:21749400-21750800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr19:21749600-21750000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:21749600-21750200	Weak transcription	Left Ventricle	heart
38	chr19:21749600-21750600	Enhancers	Primary T cells from cord blood	blood
39	chr19:21749800-21750600	Weak transcription	Liver	Liver
40	chr19:21749800-21750600	Enhancers	Thymus	Thymus
41	chr19:21749800-21752800	Active TSS	Duodenum Mucosa	Duodenum
42	chr19:21750000-21750200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:21750000-21750600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr19:21750200-21750400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr19:21750200-21750400	Active TSS	Left Ventricle	heart
46	chr19:21750200-21750600	Weak transcription	Fetal Intestine Small	intestine
47	chr19:21750200-21750600	Active TSS	Ovary	ovary
48	chr19:21750200-21750600	Weak transcription	NHDF-Ad	bronchial
49	chr19:21750200-21750800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:21750200-21750800	Active TSS	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links