Variant report

Variant	rs56401311
Chromosome Location	chr3:47413037-47413038
allele	G/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:47323139..47323661-chr3:47412618..47413208,2	MCF-7	breast:
2	chr3:47412852..47414876-chr3:47416548..47419778,4	K562	blood:
3	chr3:47411630..47415396-chr3:47420352..47423436,6	K562	blood:
4	chr3:47412445..47413110-chr3:47830757..47831273,2	K562	blood:
5	chr3:47292810..47293742-chr3:47411913..47413200,3	K562	blood:
6	chr3:47365290..47367273-chr3:47411803..47414319,2	K562	blood:
7	chr3:47323375..47325268-chr3:47411782..47413917,2	MCF-7	breast:
8	chr3:46924051..46925925-chr3:47412660..47415273,2	K562	blood:
9	chr3:46950832..46951349-chr3:47412630..47413284,2	K562	blood:
10	chr3:46910116..46910779-chr3:47412321..47413311,2	K562	blood:
11	chr3:46747343..46747876-chr3:47412441..47413259,2	MCF-7	breast:
12	chr3:47411140..47414912-chr3:47416429..47418901,3	K562	blood:
13	chr3:47291582..47292496-chr3:47412439..47413345,4	K562	blood:
14	chr3:47409105..47415396-chr3:47419096..47424075,13	K562	blood:
15	chr3:46908003..46908876-chr3:47412441..47413277,3	K562	blood:
16	chr3:47412286..47414208-chr3:47421625..47424566,2	MCF-7	breast:
17	chr3:47411303..47413398-chr3:47415238..47416931,2	MCF-7	breast:
18	chr3:47403119..47404717-chr3:47411186..47413636,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260236	Chromatin interaction
ENSG00000239128	Chromatin interaction
ENSG00000114648	Chromatin interaction
ENSG00000160801	Chromatin interaction
ENSG00000088727	Chromatin interaction
ENSG00000076201	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs57114752	1.00[AMR][1000 genomes]
rs58558054	1.00[AMR][1000 genomes]
rs60017851	1.00[AMR][1000 genomes]
rs60054745	1.00[AMR][1000 genomes]
rs60444519	1.00[AMR][1000 genomes]
rs61316433	1.00[AMR][1000 genomes]
rs73831474	1.00[AMR][1000 genomes]
rs73831477	1.00[AMR][1000 genomes]
rs73831479	1.00[AMR][1000 genomes]
rs73831480	1.00[AMR][1000 genomes]
rs73831481	1.00[AMR][1000 genomes]
rs73831483	1.00[AMR][1000 genomes]
rs73831485	1.00[AMR][1000 genomes]
rs73831488	1.00[AMR][1000 genomes]
rs73831492	1.00[AMR][1000 genomes]
rs73831493	1.00[AMR][1000 genomes]
rs73831496	1.00[AMR][1000 genomes]
rs73831497	1.00[AMR][1000 genomes]
rs73831501	1.00[AMR][1000 genomes]
rs73834305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834308	1.00[AMR][1000 genomes]
rs73834311	1.00[AMR][1000 genomes]
rs73834323	1.00[AMR][1000 genomes]
rs9872793	1.00[AMR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	esv1807553	chr3:47393616-47470763	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv3802	chr3:47396674-47441951	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47401600-47421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr3:47412000-47414800	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr3:47412200-47413400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:47412200-47413600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr3:47412200-47415000	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr3:47412400-47413200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr3:47412400-47413200	Enhancers	Adipose Nuclei	Adipose
8	chr3:47412400-47413200	Enhancers	Fetal Intestine Large	intestine
9	chr3:47412400-47413400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr3:47412400-47413400	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr3:47412400-47413400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr3:47412400-47413400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr3:47412400-47413400	Enhancers	Fetal Intestine Small	intestine
14	chr3:47412400-47413600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:47412400-47414200	Enhancers	Primary B cells from cord blood	blood
16	chr3:47412600-47413200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr3:47412600-47413200	Enhancers	Primary B cells from peripheral blood	blood
18	chr3:47412600-47413200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr3:47412600-47413200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr3:47412600-47413200	Enhancers	Liver	Liver
21	chr3:47412600-47413200	Enhancers	K562	blood
22	chr3:47412600-47413400	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr3:47412600-47413400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr3:47412600-47415200	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr3:47412800-47417800	Weak transcription	HepG2	liver
26	chr3:47413000-47413200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr3:47413000-47413200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr3:47413000-47413200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr3:47413000-47413200	Enhancers	Spleen	Spleen
30	chr3:47413000-47413400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr3:47413000-47413400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr3:47413000-47413600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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