Variant report

Variant	esv1730596
Chromosome Location	chr19:56075070-56075299
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:56026885..56028418-chr19:56074241..56076587,2	K562	blood:
2	chr19:56074703..56077083-chr19:56080095..56081698,2	K562	blood:
3	chr19:56074576..56078356-chr19:56090037..56093294,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000218891	chromatin interactions

Extended variants
information (count: 32 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79762439	chr19:56075070-56075071	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs367718217	chr19:56075076-56075077	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12981529	chr19:56075080-56075081	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs371469683	chr19:56075087-56075088	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568730522	chr19:56075096-56075097	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs534546257	chr19:56075098-56075099	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs117558885	chr19:56075113-56075114	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12981734	chr19:56075121-56075122	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570869335	chr19:56075123-56075124	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs12981739	chr19:56075128-56075129	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs202172512	chr19:56075148-56075149	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs200448976	chr19:56075151-56075152	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs151027988	chr19:56075178-56075179	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185444063	chr19:56075179-56075180	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs569516104	chr19:56075183-56075184	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190695833	chr19:56075190-56075191	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs180801280	chr19:56075191-56075192	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs185419890	chr19:56075202-56075203	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs142434362	chr19:56075221-56075222	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs370246044	chr19:56075222-56075223	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs190227396	chr19:56075240-56075241	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536816896	chr19:56075247-56075248	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs201010001	chr19:56075256-56075257	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs140999661	chr19:56075263-56075264	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs118189456	chr19:56075266-56075267	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs376251862	chr19:56075273-56075274	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539907836	chr19:56075279-56075280	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200557512	chr19:56075281-56075282	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs111212239	chr19:56075288-56075289	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371453242	chr19:56075295-56075296	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs12982059	chr19:56075296-56075297	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs138383571	chr19:56075299-56075300	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 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
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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56061800-56075400	Weak transcription	Right Atrium	heart
2	chr19:56065200-56075400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:56066800-56075600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:56067400-56088400	Weak transcription	Gastric	stomach
5	chr19:56074400-56075400	Enhancers	Stomach Mucosa	stomach
6	chr19:56074400-56075600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr19:56074400-56075600	Enhancers	Fetal Muscle Leg	muscle
8	chr19:56074400-56075800	Enhancers	Brain Germinal Matrix	brain
9	chr19:56074400-56075800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr19:56074400-56076200	Enhancers	Fetal Intestine Small	intestine
11	chr19:56074400-56076400	Enhancers	Fetal Intestine Large	intestine
12	chr19:56074400-56076600	Enhancers	Fetal Heart	heart
13	chr19:56074600-56075200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:56074600-56075600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr19:56074600-56075600	Bivalent Enhancer	HepG2	liver
16	chr19:56074600-56075800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr19:56074600-56076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr19:56074600-56076000	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr19:56074600-56076000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr19:56074600-56076600	Enhancers	Duodenum Mucosa	Duodenum
21	chr19:56074800-56075600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
22	chr19:56074800-56075600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr19:56074800-56075600	Enhancers	Hela-S3	cervix
24	chr19:56074800-56076000	Active TSS	Left Ventricle	heart
25	chr19:56074800-56076200	Active TSS	Right Ventricle	heart
26	chr19:56074800-56076400	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr19:56075000-56075400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:56075000-56075600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:56075000-56075800	Weak transcription	Fetal Lung	lung
30	chr19:56075000-56076000	Enhancers	Fetal Brain Male	brain
31	chr19:56075000-56078200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:56075000-56078400	Weak transcription	Fetal Kidney	kidney
33	chr19:56075200-56075600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:56075200-56075800	Enhancers	Pancreas	Pancrea
35	chr19:56075200-56076400	Enhancers	Colonic Mucosa	Colon

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