Variant report

Variant	esv1725119
Chromosome Location	chr19:56817776-56818196
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56815831..56819069-chr19:56823653..56827558,7	K562	blood:
2	chr19:56817144..56823532-chr19:56823653..56827077,7	K562	blood:
3	chr19:56815305..56818152-chr19:56824405..56826138,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267549	chromatin interactions
ENSG00000131848	chromatin interactions
ENSG00000267298	chromatin interactions

Extended variants
information (count: 21 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs55791386	chr19:56817785-56817786	Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs28450994	chr19:56817805-56817806	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs12980475	chr19:56817814-56817815	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs12980096	chr19:56817822-56817823	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs370413041	chr19:56817837-56817838	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs79064440	chr19:56817869-56817870	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs571867362	chr19:56817884-56817885	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs78961227	chr19:56817889-56817890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs77137648	chr19:56817898-56817899	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs74546884	chr19:56817910-56817911	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs75935883	chr19:56817936-56817937	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs74792019	chr19:56817939-56817940	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs112442383	chr19:56817953-56817954	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs56336180	chr19:56817972-56817973	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs112239306	chr19:56817994-56817995	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs370704511	chr19:56818003-56818004	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs557831487	chr19:56818005-56818006	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs577691775	chr19:56818010-56818011	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs112002193	chr19:56818121-56818122	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs113265310	chr19:56818162-56818163	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs368417223	chr19:56818171-56818172	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56772800-56824200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:56779600-56820200	Weak transcription	Hela-S3	cervix
3	chr19:56782800-56825200	Weak transcription	Psoas Muscle	Psoas
4	chr19:56783000-56825000	Weak transcription	Stomach Mucosa	stomach
5	chr19:56785400-56823600	Weak transcription	Osteobl	bone
6	chr19:56788200-56824400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:56789000-56823800	Weak transcription	Brain Angular Gyrus	brain
8	chr19:56790600-56820000	Weak transcription	Primary B cells from cord blood	blood
9	chr19:56799800-56825200	Weak transcription	Right Atrium	heart
10	chr19:56802400-56821800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr19:56803000-56824200	Weak transcription	Fetal Thymus	thymus
12	chr19:56803200-56825000	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:56804400-56825000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr19:56804600-56825000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr19:56804800-56820200	Weak transcription	HSMM	muscle
16	chr19:56805200-56825400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:56805600-56820200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:56806000-56825000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr19:56806400-56825200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr19:56806400-56825200	Weak transcription	Brain Hippocampus Middle	brain
21	chr19:56806400-56825200	Weak transcription	NH-A	brain
22	chr19:56806600-56825000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr19:56807000-56825200	Weak transcription	NHLF	lung
24	chr19:56807600-56823800	Weak transcription	GM12878-XiMat	blood
25	chr19:56807800-56825000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr19:56807800-56825200	Weak transcription	Brain Germinal Matrix	brain
27	chr19:56807800-56825200	Weak transcription	Colonic Mucosa	Colon
28	chr19:56807800-56825200	Weak transcription	Esophagus	oesophagus
29	chr19:56808200-56821400	Weak transcription	Fetal Intestine Large	intestine
30	chr19:56808200-56825000	Weak transcription	HMEC	breast
31	chr19:56810000-56825200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:56813200-56817800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr19:56813200-56822000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr19:56813600-56821600	Weak transcription	Aorta	Aorta
35	chr19:56813600-56822200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr19:56813600-56825000	Weak transcription	Fetal Heart	heart
37	chr19:56813600-56825200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:56813600-56825200	Weak transcription	Left Ventricle	heart
39	chr19:56813800-56825000	Weak transcription	HUVEC	blood vessel
40	chr19:56814000-56825200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr19:56814200-56820600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:56814200-56825000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr19:56814200-56825200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:56814400-56824800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr19:56814400-56825000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:56814400-56825200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr19:56814400-56825200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:56814400-56825400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:56814600-56823600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr19:56814600-56825000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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