Variant report

Variant	esv33810
Chromosome Location	chr19:51110251-51124545
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:51109418..51112998-chr19:51159027..51162201,6	K562	blood:
2	chr19:51108915..51112953-chr19:51162682..51166555,5	K562	blood:
3	chr19:51109418..51112978-chr19:51159521..51162574,6	K562	blood:
4	chr19:51110056..51112953-chr19:51162682..51165400,3	K562	blood:
5	chr19:51109906..51112856-chr19:51294280..51296293,2	K562	blood:
6	chr19:51103570..51107800-chr19:51108221..51112163,4	K562	blood:

Variant related genes	Relation type
ENSG00000235034	chromatin interactions
ENSG00000161681	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111251078	chr19:51110258-51110259	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs184181767	chr19:51110259-51110260	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs547666655	chr19:51110273-51110274	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11879716	chr19:51110284-51110285	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539407353	chr19:51110285-51110286	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377103001	chr19:51110359-51110360	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs192750977	chr19:51110368-51110369	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs11879789	chr19:51110378-51110379	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537283558	chr19:51110385-51110386	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs370743566	chr19:51110395-51110396	ZNF genes & repeats Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs11879814	chr19:51110423-51110424	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs541331554	chr19:51110430-51110431	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs142395192	chr19:51110431-51110432	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs577634898	chr19:51110439-51110440	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs146462271	chr19:51110446-51110447	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7508135	chr19:51110448-51110449	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs551681105	chr19:51110451-51110452	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373881767	chr19:51110452-51110453	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540589146	chr19:51110481-51110482	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs11879839	chr19:51110542-51110543	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs572977549	chr19:51110559-51110560	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs11879799	chr19:51110563-51110564	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561867640	chr19:51110596-51110597	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs75227871	chr19:51110603-51110604	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540263661	chr19:51110664-51110665	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs560487527	chr19:51110682-51110683	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7255707	chr19:51110750-51110751	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs547731539	chr19:51110753-51110754	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs573213063	chr19:51110777-51110778	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs117350260	chr19:51110830-51110831	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539092124	chr19:51110877-51110878	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs551343821	chr19:51110879-51110880	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569693883	chr19:51110890-51110891	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs537150249	chr19:51110901-51110902	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs11880443	chr19:51110910-51110911	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs7259691	chr19:51110968-51110969	Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs7258762	chr19:51111061-51111062	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs7259831	chr19:51111078-51111079	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7259125	chr19:51111098-51111099	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545112635	chr19:51111143-51111144	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs563697673	chr19:51111174-51111175	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563189928	chr19:51111199-51111200	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs370973973	chr19:51111208-51111209	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs530366583	chr19:51111213-51111214	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs368075166	chr19:51111215-51111216	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs375530731	chr19:51111221-51111222	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs531504680	chr19:51111246-51111247	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs561332479	chr19:51111247-51111248	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs529123703	chr19:51111299-51111300	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs150367933	chr19:51111301-51111302	Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Adenoid cystic carcinoma	18698036	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
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
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Ovarian cancer	22174824	CNVD
Multiple myeloma	16616336	CNVD
Lung cancer	18438408	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
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17160897	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51109000-51110800	Active TSS	Brain Anterior Caudate	brain
2	chr19:51109000-51110800	Enhancers	Brain Hippocampus Middle	brain
3	chr19:51109400-51110800	Weak transcription	Brain Angular Gyrus	brain
4	chr19:51109800-51110600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr19:51109800-51110600	Weak transcription	Brain Substantia Nigra	brain
6	chr19:51109800-51111000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:51110000-51110800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:51110200-51110600	Weak transcription	K562	blood
9	chr19:51110400-51110800	Bivalent Enhancer	Fetal Brain Male	brain
10	chr19:51110600-51110800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr19:51110600-51110800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:51110600-51111000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr19:51110600-51111000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
14	chr19:51110600-51111000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr19:51110600-51111000	Enhancers	K562	blood
16	chr19:51110600-51111200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr19:51110600-51111200	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr19:51110600-51111200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
19	chr19:51110600-51111800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
20	chr19:51110600-51112000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr19:51110600-51112000	ZNF genes & repeats	Spleen	Spleen
22	chr19:51110800-51111000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:51110800-51111000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:51110800-51111000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr19:51110800-51111000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:51110800-51111000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:51110800-51111000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr19:51110800-51111000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr19:51110800-51111000	Enhancers	Fetal Brain Male	brain
30	chr19:51110800-51111000	Bivalent Enhancer	Left Ventricle	heart
31	chr19:51110800-51111200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:51110800-51111200	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr19:51110800-51111200	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr19:51110800-51111200	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr19:51110800-51111200	Bivalent Enhancer	Fetal Heart	heart
36	chr19:51110800-51111400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr19:51110800-51111400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr19:51110800-51111400	Bivalent Enhancer	Colonic Mucosa	Colon
39	chr19:51110800-51111400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
40	chr19:51110800-51111600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chr19:51110800-51111600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:51110800-51111800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
43	chr19:51110800-51111800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr19:51110800-51111800	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr19:51110800-51111800	Active TSS	A549	lung
46	chr19:51110800-51112000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr19:51110800-51112000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr19:51110800-51112000	Enhancers	Primary B cells from peripheral blood	blood
49	chr19:51110800-51112000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
50	chr19:51110800-51112200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell

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