Variant report

Variant	rs3848649
Chromosome Location	chr19:18502337-18502338
allele	C/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18390804..18392714-chr19:18500853..18503501,2	MCF-7	breast:
2	chr19:18383403..18386564-chr19:18499646..18503057,3	K562	blood:
3	chr19:18366386..18369590-chr19:18499675..18502630,3	K562	blood:
4	chr19:18450203..18453316-chr19:18500037..18503359,3	MCF-7	breast:
5	chr19:18387676..18394124-chr19:18495437..18503905,30	K562	blood:
6	chr19:18499327..18502884-chr19:18515787..18519149,4	K562	blood:
7	chr19:18359047..18361096-chr19:18501038..18503469,2	K562	blood:
8	chr19:18494076..18504244-chr19:18508099..18514509,16	MCF-7	breast:
9	chr19:18501052..18503433-chr19:18506435..18507998,2	MCF-7	breast:
10	chr19:18458959..18461482-chr19:18499425..18502890,3	K562	blood:
11	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:

No data

Variant related genes	Relation type
ENSG00000267959	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000130522	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1055150	0.91[ASN][1000 genomes]
rs1059519	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12459566	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12459782	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2059039	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3787023	0.89[ASN][1000 genomes]
rs3848646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3848647	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3848648	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4328570	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4808128	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808789	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4808792	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4808793	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4808794	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55947999	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56033872	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6512262	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6512263	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6512264	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6512265	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6512266	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7251610	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8101804	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8107264	0.88[EUR][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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18499400-18507200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:18499400-18508200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:18499800-18502400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:18499800-18502600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
5	chr19:18499800-18502600	Weak transcription	NH-A	brain
6	chr19:18499800-18502800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:18499800-18502800	Weak transcription	Gastric	stomach
8	chr19:18499800-18503400	Weak transcription	Ovary	ovary
9	chr19:18499800-18504400	Weak transcription	Adipose Nuclei	Adipose
10	chr19:18499800-18506800	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:18499800-18506800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr19:18499800-18507200	Weak transcription	Left Ventricle	heart
13	chr19:18499800-18507200	Weak transcription	Pancreas	Pancrea
14	chr19:18499800-18507200	Weak transcription	Right Ventricle	heart
15	chr19:18499800-18507800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:18499800-18508200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr19:18499800-18508200	Weak transcription	HMEC	breast
18	chr19:18500000-18502400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr19:18500000-18507200	Weak transcription	NHLF	lung
20	chr19:18500000-18507600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr19:18500200-18502600	Genic enhancers	Primary monocytes fromperipheralblood	blood
22	chr19:18500200-18502600	Weak transcription	Stomach Mucosa	stomach
23	chr19:18500200-18502600	Weak transcription	HepG2	liver
24	chr19:18500400-18502400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:18500400-18502400	Strong transcription	Spleen	Spleen
26	chr19:18500400-18508000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr19:18500600-18508200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr19:18500800-18502800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr19:18500800-18502800	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr19:18500800-18503000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:18500800-18505400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr19:18500800-18505800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr19:18500800-18506800	Weak transcription	HSMM	muscle
34	chr19:18500800-18507200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr19:18501000-18502400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:18501000-18502800	Enhancers	Hela-S3	cervix
37	chr19:18501000-18503200	Weak transcription	HUVEC	blood vessel
38	chr19:18501000-18503600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:18501000-18503600	Weak transcription	Osteobl	bone
40	chr19:18501000-18506000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:18501000-18507200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr19:18501000-18507600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr19:18501000-18509800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr19:18501200-18503000	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
45	chr19:18501200-18504600	Weak transcription	Liver	Liver
46	chr19:18501200-18504800	Weak transcription	HSMMtube	muscle
47	chr19:18501200-18506000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:18501200-18508000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:18501400-18504400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr19:18501400-18511600	Weak transcription	A549	lung

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