Variant report

Variant	esv3374132
Chromosome Location	chr19:51108440-51113138
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	chr19:51110056..51112953-chr19:51162682..51165400,3	K562	blood:
3	chr19:51109906..51112856-chr19:51294280..51296293,2	K562	blood:
4	chr19:51109418..51112978-chr19:51159521..51162574,6	K562	blood:
5	chr19:51108915..51112953-chr19:51162682..51166555,5	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: 220 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:220 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529741480	chr19:51108476-51108477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548844150	chr19:51108492-51108493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560669982	chr19:51108530-51108531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566568872	chr19:51108593-51108594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140187987	chr19:51108616-51108617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376366068	chr19:51108634-51108635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374937811	chr19:51108664-51108665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181767074	chr19:51108670-51108671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61021844	chr19:51108675-51108676	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538266265	chr19:51108688-51108689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372555890	chr19:51108690-51108691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113269187	chr19:51108697-51108698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568582310	chr19:51108717-51108718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187569839	chr19:51108719-51108720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373721011	chr19:51108790-51108791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553804304	chr19:51108879-51108880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572711377	chr19:51108887-51108888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533707593	chr19:51108916-51108917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558448944	chr19:51108921-51108922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552187253	chr19:51108923-51108924	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs544232540	chr19:51108985-51108986	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs34511922	chr19:51109083-51109084	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs140199319	chr19:51109129-51109130	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574327016	chr19:51109130-51109131	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541954079	chr19:51109135-51109136	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs189862325	chr19:51109174-51109175	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs2431824	chr19:51109179-51109180	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201117708	chr19:51109197-51109198	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527908399	chr19:51109217-51109218	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146427839	chr19:51109231-51109232	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs34881413	chr19:51109247-51109248	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs35879211	chr19:51109248-51109249	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs564835011	chr19:51109251-51109252	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs190293896	chr19:51109284-51109285	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs182176727	chr19:51109323-51109324	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550195405	chr19:51109327-51109328	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs568366602	chr19:51109328-51109329	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs554879902	chr19:51109345-51109346	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11879032	chr19:51109346-51109347	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184924363	chr19:51109347-51109348	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs547503302	chr19:51109358-51109359	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs565809470	chr19:51109386-51109387	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs2910388	chr19:51109413-51109414	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2910389	chr19:51109439-51109440	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs2910390	chr19:51109442-51109443	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs2431825	chr19:51109462-51109463	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs183699363	chr19:51109482-51109483	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs7250862	chr19:51109540-51109541	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs537750634	chr19:51109555-51109556	Weak transcription Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs73932539	chr19:51109606-51109607	Weak transcription Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51106800-51109000	Weak transcription	K562	blood
2	chr19:51107800-51109800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:51109000-51109200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
4	chr19:51109000-51109200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr19:51109000-51109400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr19:51109000-51109400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr19:51109000-51109400	Enhancers	Brain Angular Gyrus	brain
8	chr19:51109000-51109400	Bivalent/Poised TSS	A549	lung
9	chr19:51109000-51109400	Flanking Active TSS	K562	blood
10	chr19:51109000-51109800	Active TSS	Brain Substantia Nigra	brain
11	chr19:51109000-51110800	Active TSS	Brain Anterior Caudate	brain
12	chr19:51109000-51110800	Enhancers	Brain Hippocampus Middle	brain
13	chr19:51109200-51109400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
14	chr19:51109200-51109400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:51109200-51109400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:51109200-51109400	Flanking Active TSS	Brain Cingulate Gyrus	brain
17	chr19:51109200-51109400	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr19:51109200-51109400	Bivalent Enhancer	Placenta	Placenta
19	chr19:51109200-51109800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr19:51109400-51109600	Bivalent Enhancer	Fetal Brain Male	brain
21	chr19:51109400-51109800	Enhancers	Brain Cingulate Gyrus	brain
22	chr19:51109400-51110200	Enhancers	K562	blood
23	chr19:51109400-51110800	Weak transcription	Brain Angular Gyrus	brain
24	chr19:51109800-51110000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
25	chr19:51109800-51110000	Active TSS	Brain Cingulate Gyrus	brain
26	chr19:51109800-51110600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:51109800-51110600	Weak transcription	Brain Substantia Nigra	brain
28	chr19:51109800-51111000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:51110000-51110800	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:51110200-51110600	Weak transcription	K562	blood
31	chr19:51110400-51110800	Bivalent Enhancer	Fetal Brain Male	brain
32	chr19:51110600-51110800	Bivalent/Poised TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr19:51110600-51110800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:51110600-51111000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr19:51110600-51111000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
36	chr19:51110600-51111000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr19:51110600-51111000	Enhancers	K562	blood
38	chr19:51110600-51111200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
39	chr19:51110600-51111200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr19:51110600-51111200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
41	chr19:51110600-51111800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
42	chr19:51110600-51112000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr19:51110600-51112000	ZNF genes & repeats	Spleen	Spleen
44	chr19:51110800-51111000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:51110800-51111000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr19:51110800-51111000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
47	chr19:51110800-51111000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:51110800-51111000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:51110800-51111000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr19:51110800-51111000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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