Variant report

Variant	esv2464403
Chromosome Location	chr19:53312222-53321958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:53319087-53319167	HepG2	liver:	n/a	chr19:53319119-53319130
2	MYC	chr19:53316188-53316245	Hela-S3	cervix:	n/a	n/a
3	NR2F2	chr19:53315586-53315975	K562	blood:	n/a	n/a
4	NR2F2	chr19:53315495-53316027	K562	blood:	n/a	n/a
5	POLR2A	chr19:53316815-53316836	MCF-7	breast:	n/a	n/a
6	POLR2A	chr19:53316009-53316213	MCF-7	breast:	n/a	n/a
7	POLR2A	chr19:53316792-53316806	MCF-7	breast:	n/a	n/a
8	POLR2A	chr19:53317328-53317465	K562	blood:	n/a	n/a
9	POLR2A	chr19:53316465-53316917	GM12878	blood:	n/a	n/a
10	POLR2A	chr19:53320761-53321393	GM12878	blood:	n/a	n/a
11	POLR2A	chr19:53317483-53317673	ProgFib	skin:	n/a	n/a
12	POLR2A	chr19:53321724-53321860	HepG2	liver:	n/a	n/a
13	POLR2A	chr19:53319262-53319450	ProgFib	skin:	n/a	n/a
14	POLR2A	chr19:53313310-53313692	GM12878	blood:	n/a	n/a
15	POLR2A	chr19:53316535-53316878	K562	blood:	n/a	n/a
16	POLR2A	chr19:53321079-53321393	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:53320122-53320175	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr19:53313093-53313228	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:53316578-53316894	K562	blood:	n/a	n/a
20	POLR2A	chr19:53313118-53313169	A549	lung:	n/a	n/a
21	SRF	chr19:53319627-53319688	GM12878	blood:	n/a	n/a
22	TCF7L2	chr19:53317660-53317739	Hela-S3	cervix:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF468-3	chr19:53321197-53321281	NONHSAT067589
2	lnc-ZNF468-3	chr19:53321197-53321284	NONHSAT067588
3	lnc-ZNF468-3	chr19:53317537-53317679	NONHSAT067589

No data

Variant related genes	Relation type
ZNF28	TF binding region
ENSG00000255875	TF binding region

Extended variants
information (count: 483 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569383024	chr19:53312242-53312243	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs73588384	chr19:53312258-53312259	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189081561	chr19:53312295-53312296	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561576471	chr19:53312315-53312316	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181598022	chr19:53312334-53312335	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146962422	chr19:53312395-53312396	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138449370	chr19:53312398-53312399	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577412632	chr19:53312426-53312427	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544794941	chr19:53312442-53312443	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200306738	chr19:53312487-53312488	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562702918	chr19:53312509-53312510	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs70954444	chr19:53312511-53312512	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4802999	chr19:53312512-53312513	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs371467751	chr19:53312546-53312547	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147167849	chr19:53312570-53312571	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs559747680	chr19:53312571-53312572	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs7254262	chr19:53312588-53312589	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7255428	chr19:53312628-53312629	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs75546631	chr19:53312652-53312653	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571943978	chr19:53312665-53312666	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531462661	chr19:53312671-53312672	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185744624	chr19:53312674-53312675	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568230802	chr19:53312702-53312703	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536771328	chr19:53312710-53312711	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548685297	chr19:53312736-53312737	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191184171	chr19:53312767-53312768	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534194081	chr19:53312772-53312773	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183098950	chr19:53312786-53312787	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186108999	chr19:53312798-53312799	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538115623	chr19:53312799-53312800	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556360967	chr19:53312800-53312801	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113192642	chr19:53312808-53312809	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148513795	chr19:53312826-53312827	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs7257781	chr19:53312831-53312832	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs144257819	chr19:53312841-53312842	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545791687	chr19:53312908-53312909	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs146087899	chr19:53312934-53312935	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531653412	chr19:53312949-53312950	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543718399	chr19:53312954-53312955	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537142878	chr19:53312980-53312981	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561898040	chr19:53312985-53312986	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528989102	chr19:53313044-53313045	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74594473	chr19:53313055-53313056	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs202197218	chr19:53313075-53313076	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537971733	chr19:53313078-53313079	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62119625	chr19:53313079-53313080	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527744584	chr19:53313088-53313089	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112288552	chr19:53313092-53313093	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62119626	chr19:53313093-53313094	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs139455024	chr19:53313099-53313100	ZNF genes & repeats Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
Adrenocortical carcinoma	18281524	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:533 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53296200-53324000	Weak transcription	Fetal Brain Male	brain
2	chr19:53297400-53314000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:53299200-53314000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:53299200-53314000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr19:53299200-53314000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:53299200-53314000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:53299600-53314000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:53299600-53314000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr19:53299800-53314000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr19:53301000-53314000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:53301400-53314000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
12	chr19:53302000-53314000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
13	chr19:53302800-53314000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
14	chr19:53302800-53314000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:53303000-53314000	ZNF genes & repeats	Primary B cells from cord blood	blood
16	chr19:53303200-53314000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:53303200-53314000	ZNF genes & repeats	Lung	lung
18	chr19:53303400-53314000	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr19:53303600-53314000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:53304200-53314000	ZNF genes & repeats	Aorta	Aorta
21	chr19:53304400-53315600	Weak transcription	Fetal Heart	heart
22	chr19:53305200-53314000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr19:53305400-53314000	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr19:53306000-53324000	Weak transcription	Colon Smooth Muscle	Colon
25	chr19:53306400-53314000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:53306400-53314000	ZNF genes & repeats	Esophagus	oesophagus
27	chr19:53306600-53313400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:53306600-53313800	Strong transcription	Placenta	Placenta
29	chr19:53306600-53314000	Strong transcription	Fetal Muscle Trunk	muscle
30	chr19:53306600-53324000	Weak transcription	Psoas Muscle	Psoas
31	chr19:53307000-53314000	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr19:53307600-53313800	Strong transcription	Stomach Smooth Muscle	stomach
33	chr19:53308000-53313200	Strong transcription	Fetal Stomach	stomach
34	chr19:53308000-53313400	Weak transcription	Stomach Mucosa	stomach
35	chr19:53308000-53313400	Weak transcription	HSMM	muscle
36	chr19:53308000-53319600	Weak transcription	HUVEC	blood vessel
37	chr19:53308200-53314000	Strong transcription	Fetal Muscle Leg	muscle
38	chr19:53308200-53319200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr19:53308200-53320200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr19:53308200-53324000	Weak transcription	Fetal Kidney	kidney
41	chr19:53308400-53312800	Weak transcription	Brain Germinal Matrix	brain
42	chr19:53308600-53313600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:53308800-53312600	Weak transcription	Brain Angular Gyrus	brain
44	chr19:53308800-53313400	Weak transcription	Brain Substantia Nigra	brain
45	chr19:53308800-53313400	Weak transcription	Fetal Lung	lung
46	chr19:53309600-53312800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr19:53309600-53313400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:53309800-53313200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr19:53310000-53312800	Weak transcription	Colonic Mucosa	Colon
50	chr19:53310000-53313400	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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