Variant report

Variant	esv3423006
Chromosome Location	chr19:18886977-18889825
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18858094..18859912-chr19:18886098..18888648,2	K562	blood:
2	chr19:18873859..18875560-chr19:18886840..18888488,3	K562	blood:
3	chr19:18879555..18882171-chr19:18889752..18892151,2	MCF-7	breast:
4	chr19:18848604..18850692-chr19:18885341..18887518,2	K562	blood:
5	chr19:18875448..18876988-chr19:18887590..18889948,2	MCF-7	breast:
6	chr19:18836550..18839278-chr19:18885925..18888717,2	K562	blood:
7	chr19:18880004..18881941-chr19:18884562..18887049,2	MCF-7	breast:
8	chr19:18884413..18887113-chr19:18941934..18943806,2	MCF-7	breast:
9	chr19:18885317..18890245-chr19:18892616..18897433,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000005007	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564857087	chr19:18887001-18887002	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114974425	chr19:18887017-18887018	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571056438	chr19:18887030-18887031	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs189602959	chr19:18887031-18887032	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181262506	chr19:18887065-18887066	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549227538	chr19:18887100-18887101	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568981194	chr19:18887104-18887105	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538018646	chr19:18887112-18887113	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142342799	chr19:18887136-18887137	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576890554	chr19:18887300-18887301	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186136146	chr19:18887316-18887317	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540731715	chr19:18887340-18887341	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34650394	chr19:18887355-18887356	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189363162	chr19:18887359-18887360	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576275797	chr19:18887370-18887371	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs559636489	chr19:18887408-18887409	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564423791	chr19:18887421-18887422	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs578150530	chr19:18887425-18887426	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs540694293	chr19:18887449-18887450	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560688450	chr19:18887476-18887477	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs529541587	chr19:18887481-18887482	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs549541888	chr19:18887518-18887519	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs572475067	chr19:18887633-18887634	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs563082362	chr19:18887635-18887636	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs150994831	chr19:18887638-18887639	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs551093825	chr19:18887660-18887661	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs7257846	chr19:18887677-18887678	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs140830454	chr19:18887679-18887680	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs547062775	chr19:18887714-18887715	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs150132842	chr19:18887718-18887719	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs147854262	chr19:18887721-18887722	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556319263	chr19:18887828-18887829	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs576260765	chr19:18887893-18887894	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs538882595	chr19:18887900-18887901	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs558196834	chr19:18887907-18887908	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs578049368	chr19:18887914-18887915	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540608695	chr19:18887927-18887928	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369675653	chr19:18887932-18887933	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149900769	chr19:18888000-18888001	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs144909160	chr19:18888027-18888028	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149033031	chr19:18888039-18888040	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs369119551	chr19:18888043-18888044	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs550831999	chr19:18888045-18888046	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs374595850	chr19:18888046-18888047	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs201237421	chr19:18888068-18888069	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs200281557	chr19:18888108-18888109	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs199660360	chr19:18888112-18888113	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs377708948	chr19:18888139-18888140	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs78830644	chr19:18888150-18888151	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369650858	chr19:18888162-18888163	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18854600-18895800	Weak transcription	Right Atrium	heart
2	chr19:18862600-18888400	Weak transcription	Aorta	Aorta
3	chr19:18864600-18887400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:18865400-18887400	Weak transcription	Primary T cells from cord blood	blood
5	chr19:18865600-18894600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr19:18865600-18896000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr19:18868200-18890600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:18873800-18889200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:18873800-18889200	Weak transcription	Left Ventricle	heart
10	chr19:18873800-18895600	Weak transcription	Ovary	ovary
11	chr19:18873800-18896200	Weak transcription	Brain Angular Gyrus	brain
12	chr19:18874000-18887000	Weak transcription	Colon Smooth Muscle	Colon
13	chr19:18875200-18889200	Weak transcription	Adipose Nuclei	Adipose
14	chr19:18876200-18888800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr19:18876400-18887600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr19:18876400-18888600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:18878800-18887200	Strong transcription	Brain Germinal Matrix	brain
18	chr19:18879000-18887600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:18880200-18888000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr19:18880400-18887000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr19:18880400-18887600	Weak transcription	Colonic Mucosa	Colon
22	chr19:18880600-18887200	Weak transcription	Brain Substantia Nigra	brain
23	chr19:18880600-18888000	Strong transcription	Fetal Intestine Small	intestine
24	chr19:18880600-18888400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr19:18880600-18889400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr19:18880600-18895800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:18880800-18892600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr19:18881000-18887200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:18882000-18890600	Weak transcription	Brain Anterior Caudate	brain
30	chr19:18882600-18888000	Weak transcription	Gastric	stomach
31	chr19:18882800-18887400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr19:18883000-18889600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr19:18883200-18888600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:18883400-18889200	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:18883800-18888000	Weak transcription	Fetal Heart	heart
36	chr19:18884200-18893000	Weak transcription	Esophagus	oesophagus
37	chr19:18884600-18887000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:18884800-18887000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:18885600-18887400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:18885800-18887000	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr19:18885800-18887200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:18886000-18888400	Weak transcription	Right Ventricle	heart
43	chr19:18886000-18888600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr19:18886200-18888000	Enhancers	NHLF	lung
45	chr19:18886400-18887400	Strong transcription	Lung	lung
46	chr19:18886400-18887600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr19:18886400-18888000	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:18886400-18889600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:18886600-18887000	Enhancers	Osteobl	bone
50	chr19:18886600-18887600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links