Variant report

Variant	esv2328972
Chromosome Location	chr19:56185777-56185781
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	BCL3	chr19:56185716-56186845	A549	lung:	n/a	chr19:56186662-56186671 chr19:56186569-56186578 chr19:56186659-56186668 chr19:56186810-56186819 chr19:56186433-56186442 chr19:56186182-56186195 chr19:56186420-56186433 chr19:56186475-56186484 chr19:56186189-56186202 chr19:56186657-56186670
2	CTCF	chr19:56185740-56185890	HUVEC	blood vessel:	n/a	n/a
3	HCFC1	chr19:56185639-56187350	Hela-S3	cervix:	n/a	n/a
4	MAZ	chr19:56184916-56185833	K562	blood:	n/a	chr19:56185192-56185202
5	MAZ	chr19:56185625-56187879	IMR90	lung:	n/a	n/a
6	POLR2A	chr19:56185687-56186865	K562	blood:	n/a	n/a
7	POLR2A	chr19:56185699-56186763	HepG2	liver:	n/a	n/a
8	POLR2A	chr19:56185610-56187159	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr19:56185589-56187693	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr19:56185604-56186939	GM12892	blood:	n/a	n/a
11	POLR2A	chr19:56185621-56186813	K562	blood:	n/a	n/a
12	POLR2A	chr19:56185652-56187179	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr19:56185761-56187676	GM12891	blood:	n/a	n/a
14	POLR2A	chr19:56185652-56187081	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr19:56185523-56187118	K562	blood:	n/a	n/a
16	POLR2A	chr19:56185517-56186989	K562	blood:	n/a	n/a
17	POLR2A	chr19:56185622-56187312	K562	blood:	n/a	n/a
18	POLR2A	chr19:56185656-56186978	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr19:56185570-56187206	GM12892	blood:	n/a	n/a
20	POLR2A	chr19:56185617-56185864	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr19:56185740-56186093	K562	blood:	n/a	n/a
22	POLR2A	chr19:56185645-56187033	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr19:56185658-56187111	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr19:56185621-56187334	HepG2	liver:	n/a	n/a
25	POLR2A	chr19:56185739-56187205	A549	lung:	n/a	n/a
26	POLR2A	chr19:56185664-56187793	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr19:56185615-56185906	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr19:56185597-56185809	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:56185716-56186997	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr19:56185580-56185779	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:56184849-56186152	HL-60	blood:	n/a	n/a
32	POLR2A	chr19:56185595-56187287	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:56185507-56187227	GM12878	blood:	n/a	n/a
34	POLR2A	chr19:56185541-56187012	GM12892	blood:	n/a	n/a
35	POLR2A	chr19:56185745-56187135	GM19193	blood:	n/a	n/a
36	POLR2A	chr19:56185613-56187158	GM12891	blood:	n/a	n/a
37	REST	chr19:56185572-56186047	Hela-S3	cervix:	n/a	n/a
38	SP1	chr19:56185489-56186102	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr19:56185766-56187007	A549	lung:	n/a	n/a
40	ZBTB7A	chr19:56184796-56185884	K562	blood:	n/a	n/a
41	ZBTB7A	chr19:56184893-56185982	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56185642..56190165-chr19:56193908..56196750,4	MCF-7	breast:
2	chr19:56158129..56161096-chr19:56185326..56187791,3	MCF-7	breast:
3	chr19:56114907..56116947-chr19:56184542..56187154,2	K562	blood:
4	chr19:56164666..56171824-chr19:56183341..56192911,16	MCF-7	breast:
5	chr19:56185115..56186636-chr21:46236479..46238156,2	MCF-7	breast:
6	chr19:55986321..55989143-chr19:56184299..56186966,2	K562	blood:

Variant related genes	Relation type
EPN1	TF binding region
ENSG00000261221	chromatin interactions
ENSG00000063244	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000211571	chromatin interactions
ENSG00000173581	chromatin interactions
ENSG00000197483	chromatin interactions
ENSG00000269859	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 69 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151200677	chr19:56185777-56185778	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs369481128	chr19:56185780-56185781	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	8 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
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
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21785460	CNVD
Breast cancer	20459607	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Alzheimer''s disease	22166940	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Glioblastoma multiforme	21922591	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56170200-56185800	Strong transcription	Fetal Stomach	stomach
2	chr19:56170400-56185800	Strong transcription	Fetal Brain Female	brain
3	chr19:56170800-56185800	Weak transcription	Psoas Muscle	Psoas
4	chr19:56170800-56186000	Weak transcription	Right Atrium	heart
5	chr19:56172600-56186000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr19:56175800-56186000	Weak transcription	Fetal Kidney	kidney
7	chr19:56178000-56185800	Weak transcription	HSMMtube	muscle
8	chr19:56178600-56185800	Weak transcription	Fetal Brain Male	brain
9	chr19:56181600-56185800	Genic enhancers	Liver	Liver
10	chr19:56182000-56185800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:56182000-56185800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr19:56182000-56185800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:56182000-56185800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:56182000-56185800	Strong transcription	Fetal Intestine Large	intestine
15	chr19:56182000-56185800	Strong transcription	Fetal Intestine Small	intestine
16	chr19:56182000-56185800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:56182000-56185800	Weak transcription	Stomach Mucosa	stomach
18	chr19:56182000-56185800	Strong transcription	Thymus	Thymus
19	chr19:56182000-56185800	Weak transcription	HMEC	breast
20	chr19:56182000-56185800	Weak transcription	NHDF-Ad	bronchial
21	chr19:56182000-56186000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr19:56182000-56186000	Weak transcription	Left Ventricle	heart
23	chr19:56182200-56185800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr19:56182200-56185800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr19:56182400-56185800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:56182400-56185800	Weak transcription	Brain Angular Gyrus	brain
27	chr19:56182400-56185800	Weak transcription	Colon Smooth Muscle	Colon
28	chr19:56182400-56185800	Weak transcription	Rectal Smooth Muscle	rectum
29	chr19:56182400-56186200	Weak transcription	Aorta	Aorta
30	chr19:56182600-56185800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:56182600-56185800	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr19:56182600-56185800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr19:56183000-56186000	Weak transcription	Primary B cells from cord blood	blood
34	chr19:56183000-56186000	Weak transcription	Ovary	ovary
35	chr19:56183000-56186200	Weak transcription	Small Intestine	intestine
36	chr19:56183200-56186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr19:56183200-56186200	Weak transcription	Gastric	stomach
38	chr19:56183200-56186200	Weak transcription	Pancreas	Pancrea
39	chr19:56183400-56185800	Weak transcription	Right Ventricle	heart
40	chr19:56183800-56185800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:56184000-56185800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:56184200-56185800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr19:56184200-56185800	Strong transcription	Esophagus	oesophagus
44	chr19:56184200-56185800	Weak transcription	HUVEC	blood vessel
45	chr19:56184400-56185800	Genic enhancers	HepG2	liver
46	chr19:56184600-56185800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr19:56184600-56185800	Strong transcription	Primary T cells from cord blood	blood
48	chr19:56184600-56185800	Enhancers	NH-A	brain
49	chr19:56184800-56185800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
50	chr19:56184800-56185800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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