Variant report

Variant	rs57994656
Chromosome Location	chr19:40351144-40351145
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40338036..40340893-chr19:40348527..40351769,3	MCF-7	breast:
2	chr19:40350892..40352430-chr19:40476216..40478037,2	K562	blood:
3	chr19:40345236..40348068-chr19:40350382..40353367,3	K562	blood:

Variant related genes	Relation type
ENSG00000013275	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs56806809	1.00[EUR][1000 genomes]
rs57602917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57766389	1.00[EUR][1000 genomes]
rs58047685	1.00[EUR][1000 genomes]
rs58100423	1.00[EUR][1000 genomes]
rs59342345	1.00[EUR][1000 genomes]
rs59443476	1.00[EUR][1000 genomes]
rs60369807	1.00[EUR][1000 genomes]
rs61061023	1.00[EUR][1000 genomes]
rs73548515	1.00[EUR][1000 genomes]
rs73550482	1.00[EUR][1000 genomes]
rs73550487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73550494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554429	1.00[EUR][1000 genomes]
rs73554434	1.00[EUR][1000 genomes]
rs73554442	1.00[EUR][1000 genomes]
rs73554444	1.00[EUR][1000 genomes]
rs73554445	1.00[EUR][1000 genomes]
rs73554463	1.00[EUR][1000 genomes]
rs73558346	1.00[EUR][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	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription 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 miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv9725	chr19:40315519-40412523	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv2483	chr19:40340641-40435505	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv510766	chr19:40344356-40453018	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv1846322	chr19:40350730-40404261	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40349400-40354400	Weak transcription	Colonic Mucosa	Colon
2	chr19:40349800-40353600	Weak transcription	Primary T cells from cord blood	blood
3	chr19:40349800-40356000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr19:40349800-40357400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:40349800-40369000	Weak transcription	Brain Anterior Caudate	brain
6	chr19:40350200-40353400	Weak transcription	Fetal Intestine Small	intestine
7	chr19:40350400-40372200	Weak transcription	Dnd41	blood
8	chr19:40350600-40365200	Weak transcription	Placenta	Placenta
9	chr19:40350800-40353400	Weak transcription	Fetal Stomach	stomach
10	chr19:40351000-40361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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