Variant report

Variant	rs57930417
Chromosome Location	chr19:18595691-18595692
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: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	chr19:18594286..18597312-chr19:18598721..18600664,3	K562	blood:
2	chr19:18557653..18558203-chr19:18595333..18596024,2	MCF-7	breast:
3	chr19:18594131..18599260-chr19:18628635..18634995,10	K562	blood:
4	chr19:18588633..18591403-chr19:18594095..18597353,4	MCF-7	breast:
5	chr19:18578627..18580266-chr19:18595478..18597396,3	MCF-7	breast:
6	chr19:18557624..18558203-chr19:18595333..18596184,4	MCF-7	breast:
7	chr19:18594279..18596420-chr19:18597513..18599845,2	MCF-7	breast:
8	chr19:18593399..18595831-chr19:18710963..18713438,2	K562	blood:
9	chr19:18594916..18600646-chr19:18631140..18634129,11	MCF-7	breast:
10	chr19:18595683..18597798-chr19:18617038..18618682,2	K562	blood:
11	chr19:18590783..18594037-chr19:18595527..18599240,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105656	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs28537851	1.00[AMR][1000 genomes]
rs4432374	1.00[AFR][1000 genomes]
rs60593953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv1061733	chr19:18574940-18679155	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18575400-18607200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:18581600-18597000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:18585200-18597000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr19:18585800-18599800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr19:18588200-18598200	Enhancers	Spleen	Spleen
6	chr19:18590000-18596800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr19:18590800-18596000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:18591000-18605400	Weak transcription	Thymus	Thymus
9	chr19:18591200-18596000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr19:18591400-18595800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:18591400-18595800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:18591400-18595800	Weak transcription	Ovary	ovary
13	chr19:18591400-18596200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr19:18591400-18596800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:18591400-18596800	Weak transcription	Brain Substantia Nigra	brain
16	chr19:18591400-18596800	Weak transcription	Fetal Heart	heart
17	chr19:18591400-18596800	Weak transcription	A549	lung
18	chr19:18591400-18597000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr19:18591400-18597400	Weak transcription	Aorta	Aorta
20	chr19:18591400-18605200	Weak transcription	Primary T cells from cord blood	blood
21	chr19:18591400-18605400	Weak transcription	GM12878-XiMat	blood
22	chr19:18591600-18596000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr19:18591600-18597000	Weak transcription	Brain Angular Gyrus	brain
24	chr19:18591600-18597000	Weak transcription	Fetal Lung	lung
25	chr19:18591800-18597000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:18592000-18595800	Weak transcription	Esophagus	oesophagus
27	chr19:18592000-18595800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr19:18592000-18596200	Weak transcription	Stomach Mucosa	stomach
29	chr19:18592000-18599000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr19:18592200-18596600	Weak transcription	Fetal Intestine Large	intestine
31	chr19:18592200-18596800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr19:18592200-18597000	Weak transcription	HUVEC	blood vessel
33	chr19:18592400-18596800	Weak transcription	NHLF	lung
34	chr19:18592600-18596800	Weak transcription	Brain Hippocampus Middle	brain
35	chr19:18592600-18597600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:18592800-18596800	Weak transcription	Fetal Stomach	stomach
37	chr19:18593000-18596000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:18593000-18596800	Weak transcription	NH-A	brain
39	chr19:18593000-18597000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr19:18593000-18597000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:18593600-18596000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:18593600-18596800	Enhancers	Hela-S3	cervix
43	chr19:18593600-18597000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr19:18593600-18606400	Enhancers	Primary T cells fromperipheralblood	blood
45	chr19:18593800-18596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr19:18593800-18601600	Enhancers	Liver	Liver
47	chr19:18594000-18596000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr19:18594000-18597000	Enhancers	Stomach Smooth Muscle	stomach
49	chr19:18594000-18597200	Enhancers	Duodenum Mucosa	Duodenum
50	chr19:18594000-18600400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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