Variant report

Variant	esv3443976
Chromosome Location	chr19:53421165-53423713
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr19:53423600-53423896	A549	lung:	n/a	n/a
2	NR2F2	chr19:53423539-53423804	K562	blood:	n/a	n/a
3	PAX5	chr19:53422424-53422626	GM12878	blood:	n/a	n/a
4	PAX5	chr19:53422427-53422738	GM12878	blood:	n/a	n/a
5	PAX5	chr19:53422436-53422659	GM12878	blood:	n/a	n/a
6	PAX5	chr19:53422456-53422686	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:53421267-53421287	K562	blood:	n/a	n/a
8	POLR2A	chr19:53421328-53421725	K562	blood:	n/a	n/a
9	POLR2A	chr19:53421656-53421811	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:53421285-53421300	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:53418400..53422745-chr19:53423096..53427800,7	K562	blood:
2	chr19:53418400..53422745-chr19:53423096..53427800,7	K562	blood:
3	chr19:53419869..53422803-chr19:53423217..53426977,4	K562	blood:
4	chr19:53419869..53422803-chr19:53423217..53426977,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000269646	TF binding region
ZNF888	TF binding region
ENSG00000269646	chromatin interactions
ENSG00000213793	chromatin interactions

Extended variants
information (count: 85 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371753216	chr19:53421175-53421176	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs10401262	chr19:53421196-53421197	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566599218	chr19:53421211-53421212	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs190855517	chr19:53421227-53421228	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs113678175	chr19:53421263-53421264	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs571868004	chr19:53421271-53421272	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs113000018	chr19:53421291-53421292	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs538963616	chr19:53421304-53421305	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs557292859	chr19:53421344-53421345	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs575254330	chr19:53421360-53421361	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs145203210	chr19:53421380-53421381	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113543192	chr19:53421382-53421383	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs76201701	chr19:53421387-53421388	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs183072038	chr19:53421397-53421398	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs528558375	chr19:53421412-53421413	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs564943021	chr19:53421450-53421451	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs577020819	chr19:53421461-53421462	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs6509705	chr19:53421485-53421486	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs7245999	chr19:53421501-53421502	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
20	rs530792416	chr19:53421536-53421537	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs76590246	chr19:53421592-53421593	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs560278376	chr19:53421608-53421609	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs78317594	chr19:53421616-53421617	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs146417430	chr19:53421692-53421693	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs369074329	chr19:53421761-53421762	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs571767125	chr19:53421786-53421787	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs532803312	chr19:53421798-53421799	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs377141670	chr19:53421815-53421816	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs550979501	chr19:53421837-53421838	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs545070199	chr19:53421866-53421867	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs569241543	chr19:53421923-53421924	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs546133411	chr19:53422004-53422005	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs369179819	chr19:53422061-53422062	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373889257	chr19:53422082-53422083	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs564563001	chr19:53422113-53422114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs9749491	chr19:53422155-53422156	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs80183063	chr19:53422199-53422200	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs375903455	chr19:53422217-53422218	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs146341364	chr19:53422225-53422226	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74361620	chr19:53422228-53422229	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs186067658	chr19:53422411-53422412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs62116780	chr19:53422427-53422428	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs113865838	chr19:53422433-53422434	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs566587559	chr19:53422476-53422477	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs534038535	chr19:53422484-53422485	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs377718702	chr19:53422565-53422566	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576946521	chr19:53422566-53422567	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs369603548	chr19:53422568-53422569	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs544129224	chr19:53422573-53422574	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs28558869	chr19:53422593-53422594	Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	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
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
Melanoma	17363583	CNVD
Breast cancer	21785460	CNVD
Adrenocortical carcinoma	18281524	CNVD
Melanoma	20877625	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53401000-53425600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:53401400-53425600	Weak transcription	NHDF-Ad	bronchial
3	chr19:53401400-53425800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:53401600-53425600	Weak transcription	Brain Hippocampus Middle	brain
5	chr19:53401600-53425600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr19:53401600-53426000	Weak transcription	Brain Substantia Nigra	brain
7	chr19:53401800-53421200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr19:53401800-53425600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr19:53401800-53426000	Weak transcription	Brain Angular Gyrus	brain
10	chr19:53401800-53426000	Weak transcription	Right Ventricle	heart
11	chr19:53402000-53425800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:53402000-53425800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:53408800-53421400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:53409600-53425600	Weak transcription	Fetal Kidney	kidney
15	chr19:53410000-53421400	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr19:53410400-53425400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:53410800-53425000	Weak transcription	Stomach Mucosa	stomach
18	chr19:53410800-53425000	Weak transcription	HepG2	liver
19	chr19:53410800-53425800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:53411400-53425600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:53411400-53425600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr19:53411400-53425600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:53411400-53425600	Weak transcription	HUVEC	blood vessel
24	chr19:53411400-53425800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:53411400-53425800	Weak transcription	Brain Anterior Caudate	brain
26	chr19:53411400-53426000	Weak transcription	HSMM	muscle
27	chr19:53411600-53425600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr19:53411600-53425800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr19:53411800-53425600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr19:53411800-53425600	Weak transcription	HMEC	breast
31	chr19:53412000-53422000	Strong transcription	Fetal Stomach	stomach
32	chr19:53412000-53426000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:53412200-53425800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr19:53412400-53425600	Weak transcription	Colonic Mucosa	Colon
35	chr19:53413400-53422200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr19:53413600-53425800	Weak transcription	Colon Smooth Muscle	Colon
37	chr19:53414600-53425600	Weak transcription	Small Intestine	intestine
38	chr19:53415000-53421800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:53415200-53421400	Strong transcription	Fetal Muscle Leg	muscle
40	chr19:53415400-53421600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:53415400-53422000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr19:53415600-53421600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:53415600-53421800	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr19:53415600-53422000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:53415600-53422200	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr19:53415800-53421400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:53415800-53421800	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:53416000-53421200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:53416000-53422200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:53416000-53426000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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