Variant report

Variant	rs4959051
Chromosome Location	chr6:30421606-30421607
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:30421088..30422240-chr6:30449570..30450644,10	MCF-7	breast:
2	chr6:30378981..30379484-chr6:30421470..30421976,2	K562	blood:
3	chr6:30420842..30422110-chr6:30449567..30450229,10	K562	blood:
4	chr6:30418502..30422305-chr6:30429667..30432220,3	MCF-7	breast:
5	chr6:30420870..30422111-chr6:30449570..30450171,8	MCF-7	breast:
6	chr6:30421495..30422178-chr6:30512537..30513081,2	K562	blood:
7	chr6:30292876..30295211-chr6:30419006..30421683,2	K562	blood:
8	chr6:30293711..30295719-chr6:30419664..30421683,2	K562	blood:
9	chr6:30325158..30326032-chr6:30421070..30422057,4	K562	blood:
10	chr6:30098561..30099505-chr6:30421018..30421961,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231074	Chromatin interaction
ENSG00000204599	Chromatin interaction
ENSG00000270604	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2077571	0.89[EUR][1000 genomes]
rs4947284	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4959049	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57548202	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57625144	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58101292	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58314420	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58504477	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59168158	0.89[EUR][1000 genomes]
rs59865400	0.89[EUR][1000 genomes]
rs60118758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60162146	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60937545	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61152365	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72502523	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72502524	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72502525	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73421291	0.93[AFR][1000 genomes]
rs73427041	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73429069	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer 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	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3336846	chr6:30420111-30432946	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30419200-30421800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:30419200-30421800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:30419200-30428600	Weak transcription	Pancreas	Pancrea
4	chr6:30419400-30421800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr6:30420800-30421800	Bivalent Enhancer	Primary B cells from cord blood	blood
6	chr6:30420800-30421800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:30421000-30421800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr6:30421000-30421800	Bivalent Enhancer	Fetal Stomach	stomach
9	chr6:30421200-30421800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:30421200-30421800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:30421200-30421800	Bivalent Enhancer	Liver	Liver
12	chr6:30421200-30421800	Bivalent Enhancer	Brain Anterior Caudate	brain
13	chr6:30421200-30421800	Bivalent Enhancer	Placenta	Placenta
14	chr6:30421400-30421800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:30421400-30421800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:30421400-30421800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
17	chr6:30421400-30421800	Bivalent/Poised TSS	Osteobl	bone
18	chr6:30421600-30421800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr6:30421600-30421800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:30421600-30421800	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
21	chr6:30421600-30421800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr6:30421600-30421800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
23	chr6:30421600-30421800	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:30421600-30421800	Bivalent Enhancer	Brain Substantia Nigra	brain
25	chr6:30421600-30421800	Bivalent Enhancer	Fetal Brain Male	brain
26	chr6:30421600-30421800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
27	chr6:30421600-30422000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood

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