Variant report

Variant	esv2762047
Chromosome Location	chr19:52647312-52668951
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:52658470-52658677	HepG2	liver:	n/a	n/a
2	KAP1	chr19:52651272-52651347	HEK293	kidney:	n/a	n/a
3	KAP1	chr19:52658976-52659791	K562	blood:	n/a	n/a
4	KAP1	chr19:52658401-52659994	HEK293	kidney:	n/a	n/a
5	KAP1	chr19:52658979-52659701	U2OS	brain:	n/a	n/a
6	MAFF	chr19:52659554-52659779	HepG2	liver:	n/a	chr19:52659676-52659694
7	MAFK	chr19:52659571-52659840	HepG2	liver:	n/a	chr19:52659677-52659692
8	MAFK	chr19:52659519-52659841	HepG2	liver:	n/a	chr19:52659677-52659692
9	MYC	chr19:52662330-52662364	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:52651697-52651814	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr19:52651592-52651729	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr19:52661286-52661365	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr19:52667399-52667500	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:52650571-52650606	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr19:52665099-52665174	GM12878	blood:	n/a	n/a
16	SETDB1	chr19:52658201-52659758	K562	blood:	n/a	n/a
17	SETDB1	chr19:52651199-52651602	U2OS	brain:	n/a	n/a
18	SETDB1	chr19:52658560-52660127	U2OS	brain:	n/a	n/a
19	SPI1	chr19:52647649-52647982	HL-60	blood:	n/a	chr19:52647799-52647812 chr19:52647833-52647846 chr19:52647836-52647843
20	STAT3	chr19:52662212-52662235	GM12878	blood:	n/a	n/a
21	TCF12	chr19:52658795-52659679	A549	lung:	n/a	n/a
22	WRNIP1	chr19:52659575-52659606	GM12878	blood:	n/a	n/a
23	ZNF143	chr19:52659011-52659179	K562	blood:	n/a	n/a
24	ZNF143	chr19:52659369-52659727	H1-hESC	embryonic stem cell:	n/a	n/a
25	ZNF143	chr19:52651272-52651419	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr19:52659409-52659430	K562	blood:	n/a	n/a
27	ZNF274	chr19:52658624-52660013	K562	blood:	n/a	n/a
28	ZNF274	chr19:52658394-52660115	NT2-D1	testis:	n/a	n/a
29	ZNF274	chr19:52658056-52660444	K562	blood:	n/a	n/a
30	ZNF274	chr19:52658395-52660186	GM08714	blood:	n/a	n/a
31	ZNF274	chr19:52658835-52660130	HepG2	liver:	n/a	n/a
32	ZNF274	chr19:52658835-52659930	GM12878	blood:	n/a	n/a
33	ZNF274	chr19:52658930-52659863	Hela-S3	cervix:	n/a	n/a
34	ZNF274	chr19:52658180-52660151	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52666474..52666994-chr5:115159269..115159789,2	MCF-7	breast:
2	chr19:52667110..52671353-chr19:52691931..52695004,3	MCF-7	breast:
3	chr19:52642590..52644328-chr19:52647670..52651471,3	K562	blood:
4	chr19:52659695..52662598-chr19:52663474..52665682,2	K562	blood:
5	chr19:52659695..52662598-chr19:52663474..52665682,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF836-1	chr19:52663718-52663844	ENSG00000267827.1
2	lnc-ZNF836-1	chr19:52668437-52668638	NONHSAT067521
3	lnc-ZNF836-1	chr19:52663718-52663844	ENSG00000267827.1
4	lnc-PPP2R1A-3	chr19:52647170-52647409	ENSG00000268458.1

No data

Variant related genes	Relation type
ZNF836	TF binding region
ZNF616	TF binding region
ENSG00000105568	chromatin interactions
ENSG00000204611	chromatin interactions

Extended variants
information (count: 854 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:854 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555305395	chr19:52647312-52647313	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
2	rs138637158	chr19:52647377-52647378	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs548960801	chr19:52647471-52647472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567361501	chr19:52647479-52647480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534968123	chr19:52647487-52647488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530115216	chr19:52647517-52647518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546914869	chr19:52647624-52647625	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs571781069	chr19:52647640-52647641	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs142835329	chr19:52647653-52647654	Weak transcription Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs556973699	chr19:52647710-52647711	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs35515133	chr19:52647712-52647713	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575246344	chr19:52647722-52647723	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs113083105	chr19:52647737-52647738	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548709292	chr19:52647755-52647756	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs536394285	chr19:52647778-52647779	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs77155634	chr19:52647788-52647789	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs192027939	chr19:52647796-52647797	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533946648	chr19:52647817-52647818	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs150492886	chr19:52647847-52647848	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs57706094	chr19:52647856-52647857	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs1975153	chr19:52647857-52647858	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565049454	chr19:52647858-52647859	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs372674151	chr19:52647866-52647867	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs8107315	chr19:52647893-52647894	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs557966510	chr19:52647904-52647905	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs544079577	chr19:52647924-52647925	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs146983283	chr19:52647952-52647953	Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs570380156	chr19:52648001-52648002	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138068821	chr19:52648032-52648033	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371798941	chr19:52648068-52648069	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs555719530	chr19:52648159-52648160	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112843603	chr19:52648160-52648161	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs560923219	chr19:52648272-52648273	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs184193141	chr19:52648282-52648283	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs547235512	chr19:52648357-52648358	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571852566	chr19:52648435-52648436	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs532890584	chr19:52648443-52648444	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs370694643	chr19:52648460-52648461	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs377026674	chr19:52648461-52648462	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs550887530	chr19:52648520-52648521	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375112037	chr19:52648606-52648607	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs187158906	chr19:52648653-52648654	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs536331951	chr19:52648742-52648743	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs554727270	chr19:52648800-52648801	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143917993	chr19:52648812-52648813	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs533778462	chr19:52648830-52648831	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs74918557	chr19:52648836-52648837	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs541552702	chr19:52648846-52648847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12611229	chr19:52648862-52648863	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577058088	chr19:52648980-52648981	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	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
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	18852474	CNVD
Glioblastoma multiforme	17002787	CNVD
Cervical cancer	21062161	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52644000-52650200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr19:52644000-52658000	Weak transcription	Fetal Kidney	kidney
3	chr19:52644000-52658400	Weak transcription	Brain Substantia Nigra	brain
4	chr19:52644000-52658800	Weak transcription	Right Ventricle	heart
5	chr19:52644200-52656800	Weak transcription	Brain Germinal Matrix	brain
6	chr19:52644200-52658200	Weak transcription	Right Atrium	heart
7	chr19:52644400-52657800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr19:52644400-52658000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr19:52644600-52656800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:52645200-52647400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr19:52645200-52659400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:52647400-52648200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:52647600-52648600	ZNF genes & repeats	Liver	Liver
14	chr19:52647800-52648600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr19:52648600-52648800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
16	chr19:52649400-52650200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr19:52649800-52650400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:52650000-52652600	ZNF genes & repeats	Liver	Liver
19	chr19:52650200-52650400	ZNF genes & repeats	Rectal Smooth Muscle	rectum
20	chr19:52650400-52658600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr19:52650800-52657800	Weak transcription	Fetal Brain Male	brain
22	chr19:52651600-52658400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:52651600-52667200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr19:52652200-52652400	Active TSS	Fetal Lung	lung
25	chr19:52652400-52655600	Weak transcription	Fetal Lung	lung
26	chr19:52652400-52656400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr19:52652600-52657400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:52653000-52657400	Weak transcription	Left Ventricle	heart
29	chr19:52653200-52656800	Weak transcription	Fetal Stomach	stomach
30	chr19:52653600-52656400	Weak transcription	Ovary	ovary
31	chr19:52653800-52670600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:52654000-52655000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
33	chr19:52654000-52667200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:52654000-52669000	ZNF genes & repeats	Liver	Liver
35	chr19:52654400-52671600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
36	chr19:52654600-52669200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr19:52655200-52657800	Weak transcription	Brain Angular Gyrus	brain
38	chr19:52655400-52658400	Weak transcription	Fetal Heart	heart
39	chr19:52655600-52655800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
40	chr19:52655600-52661000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
41	chr19:52655600-52665600	ZNF genes & repeats	Fetal Lung	lung
42	chr19:52655800-52656600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:52656200-52664000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
44	chr19:52656200-52666400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr19:52656400-52656800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
46	chr19:52656400-52657200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
47	chr19:52656400-52657200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:52656400-52657800	Strong transcription	Ovary	ovary
49	chr19:52656400-52660600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:52656400-52660800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--

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