Variant report

Variant	rs12896458
Chromosome Location	chr14:24758905-24758906
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24740622..24743087-chr14:24757259..24759427,3	K562	blood:
2	chr14:24701726..24703938-chr14:24757883..24760008,2	K562	blood:
3	chr14:24738980..24741186-chr14:24757188..24758952,2	K562	blood:
4	chr14:24752462..24755540-chr14:24756043..24759488,4	K562	blood:

Variant related genes	Relation type
ENSG00000100938	Chromatin interaction
ENSG00000100949	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10138762	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144194	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146996	0.82[JPT][hapmap]
rs1053648	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1053649	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12587807	0.84[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs12891891	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950505	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144492	1.00[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2144493	1.00[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2180197	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281472	1.00[CHB][hapmap];0.81[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs2295303	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2332232	0.83[ASN][1000 genomes]
rs3181382	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3742510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3742511	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4247000	1.00[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4247001	1.00[ASW][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4982895	1.00[ASW][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573678	0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs941506	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24741200-24768200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24741600-24759200	Weak transcription	Small Intestine	intestine
3	chr14:24741600-24767800	Weak transcription	Fetal Brain Male	brain
4	chr14:24743800-24759000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:24748000-24764800	Weak transcription	K562	blood
6	chr14:24748600-24768200	Weak transcription	Psoas Muscle	Psoas
7	chr14:24748800-24764800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:24749000-24768200	Weak transcription	Right Atrium	heart
9	chr14:24749200-24759400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:24749400-24759000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr14:24749400-24759400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr14:24749400-24763800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr14:24750400-24759000	Weak transcription	Brain Germinal Matrix	brain
14	chr14:24750600-24759200	Weak transcription	Left Ventricle	heart
15	chr14:24750800-24765000	Weak transcription	NHDF-Ad	bronchial
16	chr14:24752400-24759200	Weak transcription	Fetal Lung	lung
17	chr14:24753200-24760400	Weak transcription	Hela-S3	cervix
18	chr14:24753600-24766000	Weak transcription	Fetal Heart	heart
19	chr14:24753600-24768200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:24754000-24759000	Weak transcription	Fetal Brain Female	brain
21	chr14:24754200-24761400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:24756200-24765800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:24756400-24760600	Strong transcription	HepG2	liver
24	chr14:24756400-24764400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr14:24756400-24765800	Strong transcription	Fetal Intestine Small	intestine
26	chr14:24757200-24759200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:24757200-24764800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:24757400-24759200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:24757400-24765000	Weak transcription	Fetal Kidney	kidney
30	chr14:24757600-24766000	Weak transcription	Stomach Mucosa	stomach
31	chr14:24757800-24766200	Strong transcription	Fetal Stomach	stomach
32	chr14:24758000-24762200	Strong transcription	NHEK	skin
33	chr14:24758000-24765400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:24758000-24766000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:24758400-24759800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:24758400-24759800	Genic enhancers	GM12878-XiMat	blood
37	chr14:24758400-24761200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:24758400-24762000	Strong transcription	Osteobl	bone
39	chr14:24758400-24762200	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr14:24758400-24762200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:24758400-24762400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:24758400-24762400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr14:24758400-24765200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:24758400-24766000	Strong transcription	Fetal Intestine Large	intestine
45	chr14:24758400-24766400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr14:24758600-24759000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:24758600-24759000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr14:24758600-24759400	Strong transcription	Primary hematopoietic stem cells	blood
49	chr14:24758600-24759400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:24758600-24759800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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