Variant report

Variant	esv3359731
Chromosome Location	chr19:51305056-51305299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HEY1	chr19:51305231-51308447	K562	blood:	n/a	chr19:51307531-51307546
2	POLR2A	chr19:51296363-51305119	HepG2	liver:	n/a	n/a
3	POLR2A	chr19:51305284-51305679	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:51305200-51308131	GM12891	blood:	n/a	n/a
5	POLR2A	chr19:51305153-51308634	GM12878	blood:	n/a	n/a
6	POLR2A	chr19:51305171-51308575	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr19:51305299-51306327	HL-60	blood:	n/a	n/a
8	POLR2A	chr19:51305176-51308591	GM12878	blood:	n/a	n/a
9	POLR2A	chr19:51305121-51305154	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:51304983-51305188	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr19:51305263-51307426	GM12891	blood:	n/a	n/a
12	POLR2A	chr19:51305245-51305784	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr19:51305179-51309471	HepG2	liver:	n/a	n/a
14	POLR2A	chr19:51305191-51305880	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr19:51305034-51308640	GM12892	blood:	n/a	n/a
16	POLR2A	chr19:51305256-51305842	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr19:51305170-51308571	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:51305174-51308584	GM12892	blood:	n/a	n/a
19	POLR2A	chr19:51305272-51308541	K562	blood:	n/a	n/a
20	POLR2A	chr19:51305232-51306290	K562	blood:	n/a	n/a
21	POLR2A	chr19:51305213-51308097	GM12892	blood:	n/a	n/a
22	POLR2A	chr19:51305233-51305655	GM12891	blood:	n/a	n/a
23	POLR2A	chr19:51305261-51305836	GM12892	blood:	n/a	n/a
24	POLR2A	chr19:51305218-51308754	SK-N-MC	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:51304876..51308314-chr19:51372660..51375800,4	MCF-7	breast:
2	chr19:51303704..51305752-chr19:51372094..51375734,4	K562	blood:
3	chr19:51303704..51306185-chr19:51373080..51375734,4	K562	blood:
4	chr19:51225811..51229710-chr19:51304326..51309315,7	K562	blood:

No data

Variant related genes	Relation type
SNORD88B	TF binding region
SNORD88A	TF binding region
ENSG00000167751	chromatin interactions
ENSG00000105472	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185058442	chr19:51305057-51305058	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs564407565	chr19:51305149-51305150	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs531615512	chr19:51305175-51305176	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs531797911	chr19:51305192-51305193	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs550380127	chr19:51305193-51305194	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs568583114	chr19:51305194-51305195	Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs529354142	chr19:51305201-51305202	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs547496994	chr19:51305214-51305215	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs565690930	chr19:51305223-51305224	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs539494021	chr19:51305224-51305225	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs544514842	chr19:51305238-51305239	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs189026849	chr19:51305240-51305241	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs10401588	chr19:51305287-51305288	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:63)

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
Adenoid cystic carcinoma	18698036	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	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
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51297000-51306200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:51297800-51305600	Weak transcription	Fetal Brain Male	brain
3	chr19:51297800-51306200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:51298000-51305400	Weak transcription	Fetal Heart	heart
5	chr19:51298200-51305400	Strong transcription	Fetal Intestine Small	intestine
6	chr19:51298200-51305400	Strong transcription	Fetal Stomach	stomach
7	chr19:51298200-51305800	Strong transcription	Brain Germinal Matrix	brain
8	chr19:51298200-51306000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr19:51298200-51306800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr19:51298400-51305400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:51298400-51305400	Strong transcription	Fetal Muscle Leg	muscle
12	chr19:51298400-51305800	Strong transcription	Skeletal Muscle Male	skeletal muscle
13	chr19:51298600-51305200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr19:51298600-51305400	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr19:51298600-51305400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr19:51298600-51305400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr19:51298600-51305400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr19:51298600-51305600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:51298600-51305600	Strong transcription	Fetal Brain Female	brain
20	chr19:51298800-51305200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:51298800-51305400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:51298800-51305400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:51298800-51305400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr19:51298800-51305600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr19:51299000-51305400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr19:51299000-51305400	Strong transcription	Liver	Liver
27	chr19:51299200-51305800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr19:51299400-51305400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr19:51299400-51305600	Weak transcription	NHDF-Ad	bronchial
30	chr19:51299400-51305800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:51299600-51305400	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr19:51299600-51305400	Strong transcription	NHEK	skin
33	chr19:51299600-51305800	Strong transcription	Lung	lung
34	chr19:51299800-51305600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr19:51299800-51305600	Strong transcription	Placenta	Placenta
36	chr19:51300000-51305400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr19:51300000-51305600	Strong transcription	Fetal Thymus	thymus
38	chr19:51300000-51305800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:51300000-51306800	Weak transcription	Right Atrium	heart
40	chr19:51300200-51305400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr19:51300200-51305400	Strong transcription	Fetal Intestine Large	intestine
42	chr19:51300200-51305600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr19:51300200-51305800	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr19:51300400-51305400	Strong transcription	Fetal Lung	lung
45	chr19:51300400-51305800	Strong transcription	Ovary	ovary
46	chr19:51300600-51305400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
47	chr19:51300800-51305400	Strong transcription	HUVEC	blood vessel
48	chr19:51300800-51306200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr19:51301000-51305400	Strong transcription	NHLF	lung
50	chr19:51301000-51305800	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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