Variant report

Variant	rs3787023
Chromosome Location	chr19:18498246-18498247
allele	C/T
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18495232..18499014-chr19:18539147..18542857,5	K562	blood:
2	chr19:18302811..18308329-chr19:18497869..18501422,5	K562	blood:
3	chr19:18496334..18499990-chr19:18526862..18529675,5	MCF-7	breast:
4	chr19:18314629..18316965-chr19:18497132..18498761,2	K562	blood:
5	chr19:18495663..18499199-chr19:18698556..18701601,3	K562	blood:
6	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
7	chr19:18495925..18498880-chr19:18550697..18553844,3	K562	blood:
8	chr19:18370992..18373477-chr19:18497994..18500594,3	K562	blood:
9	chr19:18334018..18336391-chr19:18495614..18498582,2	K562	blood:
10	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:
11	chr19:18466985..18470499-chr19:18496778..18498391,3	K562	blood:
12	chr19:18390025..18394312-chr19:18496571..18499733,6	MCF-7	breast:
13	chr19:18495627..18501937-chr19:18519170..18524838,12	K562	blood:
14	chr19:18277732..18279350-chr19:18496912..18498851,2	K562	blood:
15	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
16	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
17	chr19:18497054..18498621-chr6:31695966..31697891,2	K562	blood:
18	chr19:18389744..18391956-chr19:18498047..18500341,2	MCF-7	breast:
19	chr19:18497921..18500338-chr19:18535616..18537236,2	K562	blood:
20	chr19:18450174..18452696-chr19:18496613..18498593,2	MCF-7	breast:
21	chr19:18387676..18394344-chr19:18495021..18501696,25	K562	blood:
22	chr19:18432124..18435327-chr19:18497848..18502091,4	K562	blood:
23	chr19:18443925..18446032-chr19:18496432..18498397,2	MCF-7	breast:
24	chr19:18448228..18453626-chr19:18495351..18501647,22	K562	blood:
25	chr19:18495971..18498335-chr19:18520063..18523312,3	MCF-7	breast:
26	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
27	chr19:18366000..18368081-chr19:18496132..18498337,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130522	Chromatin interaction
ENSG00000268199	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000213722	Chromatin interaction
ENSG00000254858	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000130511	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1055150	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1059519	0.98[ASN][1000 genomes]
rs11881403	0.82[EUR][1000 genomes]
rs12459566	0.99[ASN][1000 genomes]
rs12459782	0.98[ASN][1000 genomes]
rs2059039	0.94[ASN][1000 genomes]
rs3848646	0.94[ASN][1000 genomes]
rs3848647	0.90[ASN][1000 genomes]
rs3848648	0.83[ASN][1000 genomes]
rs3848649	0.89[ASN][1000 genomes]
rs4328570	0.90[ASN][1000 genomes]
rs4808128	0.89[ASN][1000 genomes]
rs4808792	0.94[ASN][1000 genomes]
rs4808793	0.97[ASN][1000 genomes]
rs4808794	0.95[ASN][1000 genomes]
rs55947999	0.96[ASN][1000 genomes]
rs56033872	0.96[ASN][1000 genomes]
rs6512262	0.90[ASN][1000 genomes]
rs6512263	0.89[ASN][1000 genomes]
rs6512265	0.88[ASN][1000 genomes]
rs6512266	0.94[ASN][1000 genomes]
rs7251610	0.89[ASN][1000 genomes]
rs8101804	0.98[ASN][1000 genomes]
rs8107264	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv2430	chr19:18496428-18514937	Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
10	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18485800-18499000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:18492000-18498800	Weak transcription	Right Ventricle	heart
3	chr19:18496400-18498600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells	blood
5	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:18496400-18499000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:18496400-18499000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:18496800-18499000	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr19:18496800-18499400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr19:18496800-18499400	Active TSS	A549	lung
12	chr19:18496800-18499600	Active TSS	K562	blood
13	chr19:18497000-18498800	Active TSS	Fetal Intestine Small	intestine
14	chr19:18497000-18498800	Active TSS	Lung	lung
15	chr19:18497000-18499000	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr19:18497000-18499400	Active TSS	Gastric	stomach
17	chr19:18497000-18499600	Active TSS	H9 Cell Line	embryonic stem cell
18	chr19:18497000-18499600	Active TSS	HSMMtube	muscle
19	chr19:18497000-18499800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:18497200-18498400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:18497200-18498400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr19:18497200-18499600	Flanking Active TSS	Placenta	Placenta
23	chr19:18497200-18499600	Bivalent/Poised TSS	Fetal Stomach	stomach
24	chr19:18497400-18498600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr19:18497400-18498600	Flanking Active TSS	Liver	Liver
26	chr19:18497400-18499000	Enhancers	Adipose Nuclei	Adipose
27	chr19:18497400-18499000	Active TSS	Small Intestine	intestine
28	chr19:18497400-18499000	Flanking Active TSS	HUVEC	blood vessel
29	chr19:18497600-18498400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:18497600-18498400	Active TSS	Muscle Satellite Cultured Cells	--
31	chr19:18497600-18499000	Weak transcription	Ovary	ovary
32	chr19:18497600-18499000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr19:18497600-18500600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:18497800-18498400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
35	chr19:18497800-18498400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr19:18497800-18498400	Flanking Active TSS	Stomach Mucosa	stomach
37	chr19:18497800-18498800	Active TSS	Osteobl	bone
38	chr19:18497800-18499000	Weak transcription	Right Atrium	heart
39	chr19:18497800-18499400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr19:18497800-18499600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr19:18497800-18499800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr19:18498000-18498400	Active TSS	Colonic Mucosa	Colon
43	chr19:18498000-18498400	Enhancers	Colon Smooth Muscle	Colon
44	chr19:18498000-18498400	Flanking Active TSS	Fetal Intestine Large	intestine
45	chr19:18498000-18498400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr19:18498000-18498400	Flanking Active TSS	NH-A	brain
47	chr19:18498000-18498800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
48	chr19:18498000-18498800	Enhancers	Primary B cells from peripheral blood	blood
49	chr19:18498000-18498800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr19:18498000-18498800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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