Variant report

Variant	rs57769351
Chromosome Location	chr19:39689945-39689946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39688505..39690542-chr19:39690963..39692607,2	K562	blood:
2	chr19:39617069..39618976-chr19:39687926..39690455,2	MCF-7	breast:
3	chr19:39687448..39690003-chr19:39693268..39695758,2	K562	blood:
4	chr19:39684528..39687372-chr19:39688107..39690948,3	MCF-7	breast:
5	chr19:39615011..39617919-chr19:39686746..39689965,3	MCF-7	breast:
6	chr19:39689429..39690305-chr19:39818744..39819440,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179751	Chromatin interaction
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11878229	1.00[EUR][1000 genomes]
rs11878648	1.00[EUR][1000 genomes]
rs11879084	1.00[EUR][1000 genomes]
rs11879196	1.00[EUR][1000 genomes]
rs11879341	1.00[EUR][1000 genomes]
rs11880984	1.00[EUR][1000 genomes]
rs11881029	1.00[EUR][1000 genomes]
rs11882129	1.00[EUR][1000 genomes]
rs11882668	1.00[EUR][1000 genomes]
rs11882711	1.00[EUR][1000 genomes]
rs11882955	1.00[EUR][1000 genomes]
rs16973231	1.00[EUR][1000 genomes]
rs57716250	1.00[EUR][1000 genomes]
rs58626126	1.00[EUR][1000 genomes]
rs58909586	1.00[EUR][1000 genomes]
rs59303188	1.00[EUR][1000 genomes]
rs60229944	1.00[EUR][1000 genomes]
rs60469508	0.86[AFR][1000 genomes]
rs61641657	1.00[EUR][1000 genomes]
rs7246294	1.00[EUR][1000 genomes]
rs7254424	1.00[EUR][1000 genomes]
rs7260015	1.00[EUR][1000 genomes]
rs73551720	1.00[EUR][1000 genomes]
rs73551743	1.00[EUR][1000 genomes]
rs73551744	1.00[EUR][1000 genomes]
rs73551749	1.00[EUR][1000 genomes]
rs73551786	1.00[EUR][1000 genomes]
rs73553708	1.00[EUR][1000 genomes]
rs73553711	1.00[EUR][1000 genomes]
rs73553738	1.00[EUR][1000 genomes]
rs73553740	1.00[EUR][1000 genomes]
rs73553742	1.00[EUR][1000 genomes]
rs73930732	1.00[EUR][1000 genomes]
rs73933809	1.00[EUR][1000 genomes]
rs73933837	1.00[EUR][1000 genomes]
rs8101586	1.00[EUR][1000 genomes]
rs8111473	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	esv1796470	chr19:39679379-39714631	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39685000-39690000	Enhancers	A549	lung
2	chr19:39686800-39693200	Weak transcription	Gastric	stomach
3	chr19:39687800-39690600	Weak transcription	Right Atrium	heart
4	chr19:39688000-39691200	Enhancers	Pancreas	Pancrea
5	chr19:39688800-39690000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr19:39688800-39690800	Enhancers	Placenta	Placenta
7	chr19:39689200-39691400	Weak transcription	Hela-S3	cervix
8	chr19:39689400-39690000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:39689400-39690200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr19:39689400-39690200	Enhancers	Ovary	ovary
11	chr19:39689400-39690800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr19:39689600-39690000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr19:39689600-39690000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:39689600-39690000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:39689600-39690000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr19:39689600-39690000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:39689600-39690000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr19:39689600-39690000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr19:39689600-39690000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
20	chr19:39689600-39690000	Transcr. at gene 5' and 3'	Esophagus	oesophagus
21	chr19:39689600-39690000	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr19:39689600-39690000	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr19:39689600-39690000	Bivalent Enhancer	NHLF	lung
24	chr19:39689600-39690200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:39689600-39690200	Bivalent/Poised TSS	Osteobl	bone
26	chr19:39689800-39690000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
27	chr19:39689800-39690000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr19:39689800-39690000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
29	chr19:39689800-39690000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
30	chr19:39689800-39690000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr19:39689800-39690000	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr19:39689800-39690000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
33	chr19:39689800-39690000	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr19:39689800-39690000	Bivalent/Poised TSS	Fetal Lung	lung
35	chr19:39689800-39690000	Bivalent Enhancer	Fetal Stomach	stomach
36	chr19:39689800-39690000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
37	chr19:39689800-39690000	Enhancers	K562	blood
38	chr19:39689800-39690200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:39689800-39690200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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