Variant report

Variant	rs56743160
Chromosome Location	chr19:40902216-40902217
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:40897656..40899719-chr19:40900459..40902541,2	K562	blood:
2	chr19:40898268..40902759-chr19:40908036..40910900,5	MCF-7	breast:
3	chr19:40901324..40904216-chr19:40909488..40911186,3	K562	blood:
4	chr19:40899990..40902497-chr19:40903267..40905629,3	K562	blood:
5	chr19:40901910..40904405-chr19:40950414..40951967,2	K562	blood:
6	chr19:40898297..40901896-chr19:40902195..40905165,4	MCF-7	breast:
7	chr19:40886633..40888695-chr19:40900578..40902251,2	K562	blood:
8	chr19:40900949..40906608-chr19:40907759..40912304,10	K562	blood:
9	chr19:40899990..40902497-chr19:40903267..40905629,5	K562	blood:
10	chr19:40901910..40905786-chr19:40949079..40951987,5	K562	blood:
11	chr19:40897692..40902504-chr19:40929009..40933470,4	MCF-7	breast:
12	chr19:40901632..40904457-chr19:40969491..40972115,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268366	Chromatin interaction
ENSG00000167565	Chromatin interaction
ENSG00000197019	Chromatin interaction
ENSG00000090013	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs58341807	1.00[AMR][1000 genomes]
rs58675277	1.00[AMR][1000 genomes]
rs61208274	1.00[AMR][1000 genomes]
rs7249252	1.00[AMR][1000 genomes]
rs7256297	1.00[AMR][1000 genomes]
rs73553624	1.00[AMR][1000 genomes]
rs73553657	1.00[AMR][1000 genomes]
rs73555546	1.00[AMR][1000 genomes]
rs73555594	1.00[AMR][1000 genomes]
rs73557743	1.00[AMR][1000 genomes]
rs73557755	1.00[AMR][1000 genomes]
rs73559610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73559649	1.00[AMR][1000 genomes]
rs8107448	1.00[AMR][1000 genomes]
rs8109544	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40872800-40904400	Weak transcription	Right Atrium	heart
2	chr19:40885000-40904400	Weak transcription	Fetal Lung	lung
3	chr19:40885000-40909200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:40885000-40909200	Weak transcription	Aorta	Aorta
5	chr19:40885200-40904200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:40885400-40909600	Weak transcription	Pancreas	Pancrea
7	chr19:40886800-40904200	Weak transcription	Right Ventricle	heart
8	chr19:40886800-40909200	Weak transcription	Colon Smooth Muscle	Colon
9	chr19:40887000-40909000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:40887400-40909000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr19:40887800-40909200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr19:40890000-40904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:40893400-40903000	Weak transcription	Fetal Muscle Leg	muscle
14	chr19:40894800-40909000	Weak transcription	Hela-S3	cervix
15	chr19:40897800-40904200	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr19:40899400-40904200	Weak transcription	Ovary	ovary
17	chr19:40899400-40904200	Weak transcription	HMEC	breast
18	chr19:40899600-40902800	Weak transcription	Spleen	Spleen
19	chr19:40899600-40904200	Weak transcription	Esophagus	oesophagus
20	chr19:40899600-40904400	Weak transcription	Gastric	stomach
21	chr19:40899800-40903200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr19:40899800-40904400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:40900600-40904200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr19:40901200-40903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:40901200-40903400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:40901200-40904000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:40901200-40904200	Strong transcription	Fetal Stomach	stomach
28	chr19:40901600-40904000	Strong transcription	Fetal Intestine Small	intestine
29	chr19:40901600-40904200	Strong transcription	Lung	lung
30	chr19:40902000-40902400	Bivalent/Poised TSS	NHEK	skin
31	chr19:40902000-40902600	Bivalent Enhancer	A549	lung
32	chr19:40902000-40903200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr19:40902000-40904400	Weak transcription	Brain Hippocampus Middle	brain
34	chr19:40902000-40909000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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