Variant report

Variant	esv3329590
Chromosome Location	chr19:38871564-38872123
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr19:38871651-38872432	A549	lung:	n/a	n/a
2	E2F4	chr19:38871873-38871955	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr19:38870902-38872103	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:38871960-38873301	K562	blood:	n/a	n/a
5	POLR2A	chr19:38872083-38872452	GM12892	blood:	n/a	n/a
6	POLR2A	chr19:38870794-38872639	GM12892	blood:	n/a	n/a
7	POLR2A	chr19:38870768-38871942	GM12892	blood:	n/a	n/a
8	POLR2A	chr19:38871845-38871917	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr19:38871643-38872397	GM12892	blood:	n/a	n/a
10	POLR2A	chr19:38870683-38871585	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:38871785-38872266	HL-60	blood:	n/a	n/a
12	POLR2A	chr19:38872077-38872119	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr19:38871463-38871766	K562	blood:	n/a	n/a
14	POLR2A	chr19:38870912-38871991	HepG2	liver:	n/a	n/a
15	POLR2A	chr19:38871775-38871897	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr19:38871603-38871790	GM12878	blood:	n/a	n/a
17	POLR2A	chr19:38871306-38873174	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:38869050-38873371	K562	blood:	n/a	n/a
19	POLR2A	chr19:38872021-38872466	GM12891	blood:	n/a	n/a
20	POLR2A	chr19:38871937-38872598	K562	blood:	n/a	n/a
21	POLR2A	chr19:38870771-38873361	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:38872007-38872339	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:38870925-38871775	K562	blood:	n/a	n/a
24	POLR2A	chr19:38871440-38886227	PFSK-1	brain:	n/a	n/a
25	POLR2A	chr19:38870825-38871665	K562	blood:	n/a	n/a
26	POLR2A	chr19:38869603-38879135	K562	blood:	n/a	n/a
27	POLR2A	chr19:38870877-38872941	A549	lung:	n/a	n/a
28	POLR2A	chr19:38870886-38872073	PANC-1	pancreas:	n/a	n/a
29	POLR2A	chr19:38872047-38872381	GM12891	blood:	n/a	n/a
30	POLR2A	chr19:38871846-38871923	K562	blood:	n/a	n/a
31	ZNF263	chr19:38871766-38872449	HEK293-T-REx	kidney:	n/a	chr19:38872276-38872285

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:38753884..38755807-chr19:38870034..38871603,2	MCF-7	breast:
2	chr19:38833439..38835200-chr19:38870753..38873004,2	MCF-7	breast:
3	chr19:38792696..38794987-chr19:38872066..38874612,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267090	TF binding region
ENSG00000167642	chromatin interactions
ENSG00000099338	chromatin interactions
ENSG00000167644	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141504927	chr19:38871565-38871566	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs35335693	chr19:38871588-38871589	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs373583013	chr19:38871592-38871593	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs201768988	chr19:38871604-38871605	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs11541756	chr19:38871622-38871623	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375464238	chr19:38871628-38871629	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs377249978	chr19:38871644-38871645	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370473401	chr19:38871654-38871655	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs200421213	chr19:38871655-38871656	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376689197	chr19:38871688-38871689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140149301	chr19:38871692-38871693	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs564189180	chr19:38871698-38871699	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs145353080	chr19:38871702-38871703	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs116744943	chr19:38871703-38871704	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184861905	chr19:38871724-38871725	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201431363	chr19:38871759-38871760	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs113945269	chr19:38871813-38871814	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs147245117	chr19:38871821-38871822	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550650596	chr19:38871865-38871866	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs189532162	chr19:38871890-38871891	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs533332662	chr19:38871912-38871913	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs552086415	chr19:38871934-38871935	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181515577	chr19:38871950-38871951	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534246424	chr19:38871952-38871953	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs41274324	chr19:38871961-38871962	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs73930570	chr19:38871976-38871977	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111900337	chr19:38871985-38871986	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs542623033	chr19:38871992-38871993	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs2074979	chr19:38872008-38872009	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs2074980	chr19:38872033-38872034	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs139821876	chr19:38872054-38872055	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs575411797	chr19:38872062-38872063	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs184548977	chr19:38872092-38872093	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs558057505	chr19:38872099-38872100	Strong transcription Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	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
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Wilms tumour	21544195	CNVD
Mental retardation	19951919	CNVD
19q13.11 deletion syndrome	22378287	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Lung cancer	21569311	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Pancreatic cancer	17952125	CNVD
Acute myeloid leukemia	20729466	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38866400-38876000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:38866800-38871600	Weak transcription	Small Intestine	intestine
3	chr19:38867000-38874600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr19:38867000-38874800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr19:38867000-38874800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr19:38867000-38875600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:38867000-38877200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:38867000-38878000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:38867200-38871600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:38867200-38872000	Weak transcription	Stomach Mucosa	stomach
11	chr19:38867200-38874600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr19:38867200-38874800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:38867200-38874800	Strong transcription	Fetal Intestine Large	intestine
14	chr19:38867200-38875200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr19:38867200-38875400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:38867200-38877000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr19:38867200-38877200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:38867200-38877400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:38867400-38871800	Weak transcription	Fetal Brain Male	brain
20	chr19:38867400-38874400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:38867400-38875000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr19:38867400-38875800	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr19:38867600-38872600	Weak transcription	Fetal Heart	heart
24	chr19:38867600-38872800	Strong transcription	NHEK	skin
25	chr19:38867600-38873000	Strong transcription	Placenta	Placenta
26	chr19:38867600-38873800	Strong transcription	Fetal Stomach	stomach
27	chr19:38867600-38874800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr19:38867600-38874800	Strong transcription	Fetal Muscle Trunk	muscle
29	chr19:38867600-38875200	Strong transcription	Liver	Liver
30	chr19:38867600-38875400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:38867600-38875600	Strong transcription	Fetal Intestine Small	intestine
32	chr19:38867600-38875800	Strong transcription	Primary T cells from cord blood	blood
33	chr19:38867600-38876000	Strong transcription	Primary B cells from peripheral blood	blood
34	chr19:38867600-38876200	Strong transcription	Brain Cingulate Gyrus	brain
35	chr19:38867600-38877400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr19:38867800-38871600	Strong transcription	Dnd41	blood
37	chr19:38867800-38871800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:38867800-38872200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:38867800-38873800	Strong transcription	Fetal Muscle Leg	muscle
40	chr19:38867800-38875000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr19:38867800-38875000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:38867800-38875200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:38867800-38875200	Strong transcription	Thymus	Thymus
44	chr19:38867800-38875400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr19:38867800-38875600	Strong transcription	Colon Smooth Muscle	Colon
46	chr19:38867800-38875800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:38867800-38875800	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr19:38867800-38876200	Strong transcription	Adipose Nuclei	Adipose
49	chr19:38867800-38876200	Strong transcription	Brain Hippocampus Middle	brain
50	chr19:38867800-38876600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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