Variant report

Variant	esv3368515
Chromosome Location	chr19:56074390-56076288
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	chr19:56075422..56077083-chr19:56079951..56081595,2	K562	blood:
3	chr19:56074703..56077083-chr19:56080095..56081698,2	K562	blood:
4	chr19:56070642..56072715-chr19:56075747..56078524,2	K562	blood:
5	chr19:56074576..56078356-chr19:56090037..56093294,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000218891	chromatin interactions

Extended variants
information (count: 133 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:133 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368943631	chr19:56074425-56074426	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs555267012	chr19:56074457-56074458	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs568689019	chr19:56074458-56074459	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375279085	chr19:56074497-56074498	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534172181	chr19:56074512-56074513	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184327308	chr19:56074532-56074533	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577413187	chr19:56074539-56074540	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190154417	chr19:56074548-56074549	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568050369	chr19:56074549-56074550	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs370595462	chr19:56074629-56074630	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs558428426	chr19:56074631-56074632	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs375287942	chr19:56074641-56074642	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368285655	chr19:56074643-56074644	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544149214	chr19:56074700-56074701	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs73934355	chr19:56074719-56074720	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs140916694	chr19:56074808-56074809	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs73934356	chr19:56074820-56074821	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559760261	chr19:56074835-56074836	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532030607	chr19:56074896-56074897	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111869554	chr19:56074899-56074900	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs199505422	chr19:56074900-56074901	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs190407890	chr19:56074903-56074904	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551862305	chr19:56074998-56074999	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149861946	chr19:56075033-56075034	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
25	rs531914520	chr19:56075043-56075044	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
26	rs148810552	chr19:56075046-56075047	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
27	rs74201697	chr19:56075047-56075048	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
28	rs12981506	chr19:56075058-56075059	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:90 , 50 per page) page: 1 2

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	chr19:56066600-56075000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr19:56066800-56075600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:56067400-56088400	Weak transcription	Gastric	stomach
6	chr19:56071200-56074400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr19:56071400-56074400	Weak transcription	Stomach Mucosa	stomach
8	chr19:56073600-56074400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:56073600-56074400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr19:56074400-56074600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr19:56074400-56074600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:56074400-56074800	Enhancers	Left Ventricle	heart
13	chr19:56074400-56074800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr19:56074400-56074800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr19:56074400-56075000	Bivalent Enhancer	Fetal Brain Male	brain
16	chr19:56074400-56075400	Enhancers	Stomach Mucosa	stomach
17	chr19:56074400-56075600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr19:56074400-56075600	Enhancers	Fetal Muscle Leg	muscle
19	chr19:56074400-56075800	Enhancers	Brain Germinal Matrix	brain
20	chr19:56074400-56075800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr19:56074400-56076200	Enhancers	Fetal Intestine Small	intestine
22	chr19:56074400-56076400	Enhancers	Fetal Intestine Large	intestine
23	chr19:56074400-56076600	Enhancers	Fetal Heart	heart
24	chr19:56074600-56074800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:56074600-56074800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:56074600-56074800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:56074600-56075000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:56074600-56075000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:56074600-56075000	Enhancers	Fetal Lung	lung
30	chr19:56074600-56075200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:56074600-56075600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr19:56074600-56075600	Bivalent Enhancer	HepG2	liver
33	chr19:56074600-56075800	Bivalent Enhancer	Fetal Stomach	stomach
34	chr19:56074600-56076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:56074600-56076000	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr19:56074600-56076000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr19:56074600-56076600	Enhancers	Duodenum Mucosa	Duodenum
38	chr19:56074800-56075000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:56074800-56075000	Enhancers	Fetal Kidney	kidney
40	chr19:56074800-56075600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
41	chr19:56074800-56075600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr19:56074800-56075600	Enhancers	Hela-S3	cervix
43	chr19:56074800-56076000	Active TSS	Left Ventricle	heart
44	chr19:56074800-56076200	Active TSS	Right Ventricle	heart
45	chr19:56074800-56076400	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr19:56075000-56075400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:56075000-56075600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
48	chr19:56075000-56075800	Weak transcription	Fetal Lung	lung
49	chr19:56075000-56076000	Enhancers	Fetal Brain Male	brain
50	chr19:56075000-56078200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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