Variant report

Variant	rs454645
Chromosome Location	chr3:146232469-146232470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:146230433..146232969-chr3:146233230..146235979,3	K562	blood:
2	chr3:146231973..146233621-chr3:146239726..146242510,2	K562	blood:

Variant related genes	Relation type
ENSG00000188313	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs173150	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs186910	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343314	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs343316	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343317	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343318	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs343320	1.00[CEU][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71302408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448053	chr3:146186791-146262066	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv3523751	chr3:146186838-146261806	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv3523753	chr3:146186838-146261806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv2496437	chr3:146186902-146262961	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146214200-146235400	Weak transcription	Right Atrium	heart
2	chr3:146216000-146232800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:146222800-146237200	Weak transcription	GM12878-XiMat	blood
4	chr3:146224200-146246400	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:146224600-146241000	Weak transcription	Fetal Kidney	kidney
6	chr3:146224800-146254400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr3:146225000-146240800	Weak transcription	Small Intestine	intestine
8	chr3:146225400-146240600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:146225400-146255000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr3:146225400-146256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:146225400-146257000	Weak transcription	Right Ventricle	heart
12	chr3:146225400-146260800	Weak transcription	NH-A	brain
13	chr3:146225600-146240400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:146225600-146252200	Weak transcription	Psoas Muscle	Psoas
15	chr3:146225600-146258600	Weak transcription	Brain Hippocampus Middle	brain
16	chr3:146226000-146241400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:146226200-146232600	Weak transcription	Hela-S3	cervix
18	chr3:146226200-146240800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:146226200-146245800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:146226400-146235400	Weak transcription	K562	blood
21	chr3:146228000-146248200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr3:146229000-146253200	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr3:146229000-146259600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr3:146229400-146252200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr3:146229800-146235400	Weak transcription	HepG2	liver
26	chr3:146229800-146257000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr3:146230000-146233000	Strong transcription	Primary B cells from cord blood	blood
28	chr3:146230400-146232800	Genic enhancers	Pancreas	Pancrea
29	chr3:146230400-146233000	Strong transcription	Fetal Muscle Leg	muscle
30	chr3:146230400-146233000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
31	chr3:146230400-146233000	Strong transcription	Spleen	Spleen
32	chr3:146230400-146234600	Strong transcription	Dnd41	blood
33	chr3:146230400-146248600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr3:146230600-146241400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr3:146230800-146234200	Weak transcription	Stomach Mucosa	stomach
36	chr3:146230800-146235000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:146231000-146240000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:146231200-146232600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:146231200-146235000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr3:146231400-146232600	Enhancers	HMEC	breast
41	chr3:146231400-146233000	Strong transcription	Adipose Nuclei	Adipose
42	chr3:146231400-146233000	Genic enhancers	NHEK	skin
43	chr3:146231400-146233200	Strong transcription	Primary hematopoietic stem cells	blood
44	chr3:146231400-146234600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr3:146231400-146242800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:146231600-146232600	Genic enhancers	Liver	Liver
47	chr3:146231600-146232800	Strong transcription	Gastric	stomach
48	chr3:146231600-146232800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:146231600-146233000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:146231600-146233000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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