Variant report

Variant	esv3395218
Chromosome Location	chr19:37682236-37682710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:37682668-37682834	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:37672779..37674398-chr19:37681782..37683371,2	K562	blood:

Variant related genes	Relation type
ZNF585B	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147967065	chr19:37682242-37682243	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373852962	chr19:37682339-37682340	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545574646	chr19:37682348-37682349	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141851292	chr19:37682349-37682350	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189385368	chr19:37682391-37682392	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112802613	chr19:37682394-37682395	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55825113	chr19:37682425-37682426	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs528867145	chr19:37682435-37682436	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544511219	chr19:37682440-37682441	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562593709	chr19:37682448-37682449	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532969324	chr19:37682482-37682483	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551201423	chr19:37682519-37682520	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566325548	chr19:37682603-37682604	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543056367	chr19:37682657-37682658	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147043113	chr19:37682698-37682699	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs117071886	chr19:37682701-37682702	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs181364964	chr19:37682704-37682705	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Glioma	17123091	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	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

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37668000-37686000	ZNF genes & repeats	Liver	Liver
2	chr19:37672000-37686400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
3	chr19:37672200-37686000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:37672800-37686000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:37673200-37690600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr19:37673400-37685400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:37673800-37685600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:37675000-37701000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr19:37676600-37685200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:37676800-37683000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
11	chr19:37676800-37683400	ZNF genes & repeats	Fetal Lung	lung
12	chr19:37676800-37684600	ZNF genes & repeats	Fetal Muscle Leg	muscle
13	chr19:37676800-37686000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
14	chr19:37676800-37686000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:37677000-37683200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:37677000-37683400	ZNF genes & repeats	Fetal Brain Female	brain
17	chr19:37677000-37684800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:37677000-37685600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
19	chr19:37677000-37686000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr19:37677000-37686000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:37677000-37686000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr19:37677000-37686200	ZNF genes & repeats	Ovary	ovary
23	chr19:37677200-37682600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
24	chr19:37677200-37683000	ZNF genes & repeats	Rectal Smooth Muscle	rectum
25	chr19:37677200-37683400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
26	chr19:37677200-37685400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr19:37677200-37687600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
28	chr19:37677400-37684600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:37677400-37685000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
30	chr19:37678400-37685000	Strong transcription	Brain Anterior Caudate	brain
31	chr19:37678600-37684800	Strong transcription	Brain Cingulate Gyrus	brain
32	chr19:37678600-37686200	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr19:37678800-37684800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:37679000-37683000	ZNF genes & repeats	Aorta	Aorta
35	chr19:37679000-37683000	ZNF genes & repeats	Lung	lung
36	chr19:37679000-37684800	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr19:37679000-37685400	ZNF genes & repeats	Fetal Stomach	stomach
38	chr19:37679000-37700800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:37679800-37686400	Strong transcription	Brain Hippocampus Middle	brain
40	chr19:37680600-37682400	ZNF genes & repeats	Brain Germinal Matrix	brain
41	chr19:37680600-37682600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr19:37680600-37683000	Weak transcription	NHEK	skin
43	chr19:37680600-37685200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:37680600-37700800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr19:37680800-37682400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:37680800-37682400	Weak transcription	Stomach Mucosa	stomach
47	chr19:37680800-37682800	Weak transcription	Fetal Brain Male	brain
48	chr19:37680800-37683000	Weak transcription	Fetal Kidney	kidney
49	chr19:37680800-37683200	Weak transcription	Psoas Muscle	Psoas
50	chr19:37680800-37684400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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