Variant report

Variant	esv3446112
Chromosome Location	chr19:52215540-52218888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:52213445..52215561-chr19:52311102..52312961,2	MCF-7	breast:
2	chr19:52213474..52218033-chr19:52227253..52233222,6	K562	blood:
3	chr19:52197003..52199691-chr19:52213714..52215992,2	MCF-7	breast:
4	chr19:52214081..52217958-chr19:52222891..52225862,3	K562	blood:
5	chr19:52218179..52219711-chr19:52309357..52312195,2	MCF-7	breast:
6	chr19:52213601..52216157-chr19:52216893..52219769,2	MCF-7	breast:
7	chr19:52213601..52216157-chr19:52216893..52219769,2	MCF-7	breast:
8	chr19:52205873..52210007-chr19:52211189..52216257,9	K562	blood:
9	chr19:52216500..52217173-chr19:52286806..52287310,2	MCF-7	breast:
10	chr19:52216085..52216905-chr19:52311568..52312097,3	MCF-7	breast:
11	chr19:52216356..52218873-chr19:52218955..52221873,2	MCF-7	breast:
12	chr19:52215836..52216573-chr19:52280774..52281726,5	MCF-7	breast:
13	chr19:52210301..52211912-chr19:52215119..52217997,2	K562	blood:
14	chr19:52215661..52216484-chr19:52286408..52287282,3	MCF-7	breast:
15	chr19:52213474..52215839-chr19:52229447..52232151,2	K562	blood:
16	chr19:52216020..52218332-chr19:52241843..52243372,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105509	chromatin interactions
ENSG00000182310	chromatin interactions

Extended variants
information (count: 171 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539974487	chr19:52215543-52215544	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs4802847	chr19:52215558-52215559	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs78566523	chr19:52215656-52215657	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs538022790	chr19:52215663-52215664	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs531782974	chr19:52215667-52215668	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs565071765	chr19:52215698-52215699	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs185728157	chr19:52215705-52215706	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs75462472	chr19:52215712-52215713	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs114962479	chr19:52215716-52215717	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs563708199	chr19:52215720-52215721	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs148854169	chr19:52215756-52215757	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190398884	chr19:52215760-52215761	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs35352066	chr19:52215806-52215807	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs398101263	chr19:52215807-52215808	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs10419792	chr19:52215828-52215829	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs73054902	chr19:52215870-52215871	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs547264052	chr19:52215914-52215915	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs182666046	chr19:52215924-52215925	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs539322883	chr19:52215941-52215942	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs372157302	chr19:52215972-52215973	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs61683178	chr19:52215974-52215975	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs568891224	chr19:52216053-52216054	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs79956121	chr19:52216109-52216110	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs45475696	chr19:52216154-52216155	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186898017	chr19:52216161-52216162	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs540098058	chr19:52216210-52216211	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs563356837	chr19:52216275-52216276	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs3829654	chr19:52216295-52216296	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs3829653	chr19:52216331-52216332	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs3829652	chr19:52216353-52216354	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs3829651	chr19:52216356-52216357	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs530843160	chr19:52216391-52216392	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201449622	chr19:52216443-52216444	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs3829650	chr19:52216447-52216448	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs373618266	chr19:52216449-52216450	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs398101264	chr19:52216452-52216453	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs3829649	chr19:52216464-52216465	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs10422907	chr19:52216466-52216467	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs3829648	chr19:52216473-52216474	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs571821888	chr19:52216499-52216500	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs532665049	chr19:52216501-52216502	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs555398611	chr19:52216504-52216505	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs74328293	chr19:52216537-52216538	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs374991279	chr19:52216552-52216553	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs3829647	chr19:52216563-52216564	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs566523994	chr19:52216576-52216577	Weak transcription Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs533894945	chr19:52216615-52216616	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558430616	chr19:52216668-52216669	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576992059	chr19:52216683-52216684	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs544159095	chr19:52216691-52216692	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Adrenocortical carcinoma	18281524	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lung cancer	18438408	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ovarian cancer	21781307	CNVD
Neuroblastoma	20406844	CNVD
Cancer	20164920	CNVD
Melanoma	17363583	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52208000-52216600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:52208400-52216200	Weak transcription	Fetal Brain Male	brain
3	chr19:52208400-52218200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr19:52208400-52220200	Weak transcription	Ovary	ovary
5	chr19:52208600-52218800	Weak transcription	Fetal Heart	heart
6	chr19:52208800-52222000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:52209600-52222400	Weak transcription	Spleen	Spleen
8	chr19:52210400-52216400	Weak transcription	Brain Anterior Caudate	brain
9	chr19:52210400-52216800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr19:52210400-52218200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr19:52210400-52222000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:52210800-52215800	Weak transcription	Fetal Kidney	kidney
13	chr19:52210800-52216400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:52211000-52216200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr19:52211000-52216200	Weak transcription	HMEC	breast
16	chr19:52211000-52218000	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:52211200-52216400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr19:52211200-52216600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:52211200-52218200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:52211400-52216600	Weak transcription	Fetal Lung	lung
21	chr19:52211400-52219200	Weak transcription	Brain Angular Gyrus	brain
22	chr19:52211600-52216200	Weak transcription	Osteobl	bone
23	chr19:52211600-52218400	Weak transcription	K562	blood
24	chr19:52211800-52215600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:52211800-52216200	Weak transcription	NHLF	lung
26	chr19:52213000-52217000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr19:52213200-52216600	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:52213200-52217000	Weak transcription	Esophagus	oesophagus
29	chr19:52213200-52217200	Weak transcription	Placenta	Placenta
30	chr19:52213400-52217000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr19:52213400-52218000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr19:52213800-52218200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr19:52214200-52222400	Weak transcription	HSMM	muscle
34	chr19:52214400-52216600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
35	chr19:52214400-52216800	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr19:52214800-52216800	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr19:52215400-52216400	Weak transcription	Primary B cells from cord blood	blood
38	chr19:52215600-52217400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:52215800-52216200	Enhancers	Fetal Kidney	kidney
40	chr19:52215800-52216400	Weak transcription	Right Ventricle	heart
41	chr19:52216200-52216600	Enhancers	HMEC	breast
42	chr19:52216200-52221200	Strong transcription	Osteobl	bone
43	chr19:52216400-52216800	Enhancers	Primary B cells from cord blood	blood
44	chr19:52216600-52216800	Enhancers	Right Ventricle	heart
45	chr19:52216600-52217200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:52216600-52217400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr19:52216800-52217400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr19:52216800-52217800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr19:52217000-52217200	Enhancers	Esophagus	oesophagus
50	chr19:52217000-52217400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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