Variant report

Variant	esv12116
Chromosome Location	chr19:21748700-21759143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:126)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:126 , 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	chr19:21748929-21749238	K562	blood:	n/a	chr19:21749052-21749073 chr19:21749056-21749069
5	BHLHE40	chr19:21756673-21757583	K562	blood:	n/a	n/a
6	CBX3	chr19:21756514-21757083	K562	blood:	n/a	n/a
7	CEBPB	chr19:21756603-21757299	K562	blood:	n/a	n/a
8	CEBPB	chr19:21756680-21757218	K562	blood:	n/a	n/a
9	CEBPB	chr19:21750847-21750982	K562	blood:	n/a	n/a
10	CEBPB	chr19:21750808-21751049	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	chr19:21756465-21757280	K562	blood:	n/a	n/a
14	CREB1	chr19:21756576-21757234	K562	blood:	n/a	n/a
15	CTCF	chr19:21757218-21757312	Lung_OC	lung:	n/a	n/a
16	CTCF	chr19:21753960-21754110	GM12865	blood:	n/a	n/a
17	CUX1	chr19:21756568-21756943	K562	blood:	n/a	n/a
18	CUX1	chr19:21759134-21759150	GM12878	blood:	n/a	n/a
19	E2F4	chr19:21750186-21750225	MCF10A-Er-Src	breast:	n/a	n/a
20	EGR1	chr19:21756699-21757045	K562	blood:	n/a	n/a
21	EGR1	chr19:21756687-21757036	K562	blood:	n/a	n/a
22	ELF1	chr19:21751768-21752387	MCF-7	breast:	n/a	n/a
23	ELF1	chr19:21751794-21752441	MCF-7	breast:	n/a	n/a
24	EP300	chr19:21749022-21749165	K562	blood:	n/a	n/a
25	EP300	chr19:21756584-21757170	K562	blood:	n/a	n/a
26	FOS	chr19:21748977-21749159	MCF10A-Er-Src	breast:	n/a	n/a
27	FOSL1	chr19:21756741-21757060	K562	blood:	n/a	chr19:21756822-21756833
28	FOSL1	chr19:21756681-21757013	K562	blood:	n/a	chr19:21756822-21756833
29	FOXA2	chr19:21750825-21751193	A549	lung:	n/a	n/a
30	GABPA	chr19:21751655-21752522	MCF-7	breast:	n/a	n/a
31	GABPA	chr19:21751741-21752336	MCF-7	breast:	n/a	n/a
32	HCFC1	chr19:21756670-21757018	K562	blood:	n/a	n/a
33	HEY1	chr19:21751817-21752053	K562	blood:	n/a	n/a
34	HEY1	chr19:21751841-21751988	HepG2	liver:	n/a	n/a
35	HEY1	chr19:21751803-21752127	HepG2	liver:	n/a	n/a
36	HEY1	chr19:21751782-21752096	K562	blood:	n/a	n/a
37	IRF1	chr19:21757706-21757716	K562	blood:	n/a	n/a
38	IRF1	chr19:21756643-21757004	K562	blood:	n/a	n/a
39	JUN	chr19:21756402-21757858	K562	blood:	n/a	chr19:21757615-21757628
40	JUN	chr19:21755367-21755523	HepG2	liver:	n/a	chr19:21755447-21755460
41	JUN	chr19:21756654-21756875	HepG2	liver:	n/a	n/a
42	JUN	chr19:21756642-21756999	K562	blood:	n/a	n/a
43	JUN	chr19:21756635-21757045	K562	blood:	n/a	n/a
44	JUN	chr19:21756636-21757082	K562	blood:	n/a	n/a
45	JUN	chr19:21757506-21757726	HepG2	liver:	n/a	chr19:21757615-21757628
46	JUN	chr19:21748886-21749378	K562	blood:	n/a	chr19:21749301-21749310
47	JUN	chr19:21756645-21757073	K562	blood:	n/a	n/a
48	JUND	chr19:21756547-21757438	K562	blood:	n/a	chr19:21756822-21756833
49	JUND	chr19:21748948-21749163	K562	blood:	n/a	n/a
50	JUND	chr19:21757443-21757767	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21757543..21760677-chr19:21760984..21764499,3	K562	blood:

(count:6 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000268081	TF binding region

Extended variants
information (count: 751 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:751 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528377418	chr19:21748706-21748707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111487216	chr19:21748721-21748722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138928361	chr19:21748723-21748724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs573266604	chr19:21748724-21748725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113680175	chr19:21748729-21748730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113151492	chr19:21748737-21748738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77289608	chr19:21748763-21748764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548032934	chr19:21748776-21748777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567029379	chr19:21748782-21748783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375844576	chr19:21748813-21748814	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534135060	chr19:21748834-21748835	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs79141118	chr19:21748835-21748836	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577161314	chr19:21748845-21748846	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377292808	chr19:21748858-21748859	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111964747	chr19:21748934-21748935	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112298459	chr19:21748945-21748946	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556568641	chr19:21748949-21748950	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375301086	chr19:21748968-21748969	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs118063113	chr19:21748976-21748977	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542670896	chr19:21748987-21748988	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560839786	chr19:21749012-21749013	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1113577	chr19:21749035-21749036	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs371315486	chr19:21749055-21749056	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375575096	chr19:21749063-21749064	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs368056090	chr19:21749065-21749066	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370526772	chr19:21749073-21749074	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs369470665	chr19:21749079-21749080	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536887858	chr19:21749082-21749083	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374886727	chr19:21749084-21749085	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7343111	chr19:21749085-21749086	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565168017	chr19:21749089-21749090	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367545765	chr19:21749098-21749099	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371383080	chr19:21749107-21749108	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376823348	chr19:21749110-21749111	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375480950	chr19:21749116-21749117	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs532494831	chr19:21749135-21749136	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs550972180	chr19:21749143-21749144	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs368602809	chr19:21749148-21749149	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372522461	chr19:21749149-21749150	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375097419	chr19:21749165-21749166	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145274877	chr19:21749166-21749167	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs369270691	chr19:21749167-21749168	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371490362	chr19:21749173-21749174	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548617436	chr19:21749179-21749180	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141788266	chr19:21749181-21749182	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566861499	chr19:21749189-21749190	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs374942328	chr19:21749191-21749192	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77559172	chr19:21749192-21749193	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369281478	chr19:21749197-21749198	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs372568789	chr19:21749202-21749203	Weak transcription ZNF genes & repeats Enhancers	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:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21738000-21749400	Weak transcription	Left Ventricle	heart
2	chr19:21738000-21751400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:21738600-21751600	Weak transcription	Osteobl	bone
4	chr19:21739400-21751200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr19:21740600-21750600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr19:21742800-21750600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:21743200-21750400	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:21743600-21751600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:21744800-21750600	Weak transcription	Colonic Mucosa	Colon
10	chr19:21744800-21750600	Weak transcription	Fetal Kidney	kidney
11	chr19:21745000-21750600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr19:21745200-21749400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr19:21746600-21749000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:21746600-21749200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr19:21746600-21749200	Weak transcription	Adipose Nuclei	Adipose
16	chr19:21746600-21750600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:21746600-21751200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr19:21746600-21751600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:21746600-21751600	Weak transcription	Fetal Brain Male	brain
20	chr19:21746800-21750200	Weak transcription	Ovary	ovary
21	chr19:21746800-21750400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr19:21746800-21750600	Weak transcription	Fetal Muscle Trunk	muscle
23	chr19:21746800-21750800	Weak transcription	Fetal Lung	lung
24	chr19:21747000-21750200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr19:21747000-21750200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr19:21747000-21750400	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr19:21747200-21751200	Weak transcription	Fetal Stomach	stomach
28	chr19:21747400-21750600	Enhancers	Fetal Intestine Large	intestine
29	chr19:21747600-21749600	Weak transcription	Primary T cells from cord blood	blood
30	chr19:21747800-21750400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr19:21748000-21749000	Weak transcription	Dnd41	blood
32	chr19:21748000-21750600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:21748200-21750400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr19:21748400-21749200	Weak transcription	Fetal Intestine Small	intestine
35	chr19:21748400-21751600	Weak transcription	Stomach Mucosa	stomach
36	chr19:21748600-21748800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:21748800-21749600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr19:21749000-21749200	Enhancers	Fetal Heart	heart
39	chr19:21749000-21749800	ZNF genes & repeats	Liver	Liver
40	chr19:21749000-21750600	Enhancers	Dnd41	blood
41	chr19:21749000-21751200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr19:21749000-21751400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:21749200-21749400	Enhancers	Brain Germinal Matrix	brain
44	chr19:21749200-21750000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr19:21749200-21750200	Enhancers	Fetal Intestine Small	intestine
46	chr19:21749200-21750400	Enhancers	Adipose Nuclei	Adipose
47	chr19:21749200-21750800	Weak transcription	Fetal Heart	heart
48	chr19:21749400-21749600	Enhancers	Left Ventricle	heart
49	chr19:21749400-21750800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr19:21749600-21750000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links