Variant report

Variant	rs11183179
Chromosome Location	chr12:46103566-46103567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:46103374..46105811-chr12:46121014..46123339,2	K562	blood:
2	chr12:46102452..46106078-chr12:46112003..46116824,4	K562	blood:

Variant related genes	Relation type
ENSG00000273015	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10880841	1.00[CEU][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880850	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10880851	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10880853	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183166	1.00[CEU][hapmap];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183173	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11610813	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11613663	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12318735	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320114	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12367059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423797	0.88[EUR][1000 genomes]
rs12424874	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12426716	0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs12427001	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12427272	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17712809	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs17774089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774927	0.89[CEU][hapmap];0.82[CHB][hapmap]
rs183646	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs2059405	0.94[CEU][hapmap];0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs2111963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2160983	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408436	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs247927	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs2897910	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35123	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs35124	0.94[CEU][hapmap];0.82[CHB][hapmap]
rs3759404	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4512915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514487	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768659	0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768660	0.94[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4768662	0.94[CEU][hapmap];0.85[CHB][hapmap]
rs57267123	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67790232	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73095414	0.84[EUR][1000 genomes]
rs73095421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73095489	0.87[EUR][1000 genomes]
rs7485654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv899052	chr12:46068394-46175469	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
2	nsv899053	chr12:46100053-46141372	Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
3	esv3400311	chr12:46103187-46103616	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46095800-46106800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:46097200-46114600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:46097800-46118800	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:46098200-46106000	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:46099600-46105600	Weak transcription	Left Ventricle	heart
6	chr12:46099600-46113000	Weak transcription	Psoas Muscle	Psoas
7	chr12:46099600-46115600	Weak transcription	Ovary	ovary
8	chr12:46100600-46104000	Enhancers	Liver	Liver
9	chr12:46100600-46118800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:46101000-46112400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:46101200-46108400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:46101400-46115600	Weak transcription	Brain Substantia Nigra	brain
13	chr12:46102400-46106600	Weak transcription	HSMM	muscle
14	chr12:46102600-46106800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr12:46103000-46104600	Weak transcription	Brain Hippocampus Middle	brain
16	chr12:46103400-46106800	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:46103400-46115200	Weak transcription	Small Intestine	intestine

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