Variant report

Variant	rs4514487
Chromosome Location	chr12:46105242-46105243
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: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10880841	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10880846	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880847	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880848	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880849	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880850	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10880851	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10880853	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183166	0.82[EUR][1000 genomes]
rs11183173	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11183178	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183179	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183180	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11183181	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11610813	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11613663	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12318735	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12320114	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12367059	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12424874	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12427001	0.84[EUR][1000 genomes]
rs12427272	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17712083	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17774089	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2111963	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2160983	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2897910	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3759404	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4512915	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4768659	0.84[EUR][1000 genomes]
rs73095421	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73095422	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7485654	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[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	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

No data

Chromatin state (count:19 , 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	chr12:46100600-46118800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr12:46101000-46112400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr12:46101200-46108400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:46101400-46115600	Weak transcription	Brain Substantia Nigra	brain
12	chr12:46102400-46106600	Weak transcription	HSMM	muscle
13	chr12:46102600-46106800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:46103400-46106800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:46103400-46115200	Weak transcription	Small Intestine	intestine
16	chr12:46104000-46105600	Weak transcription	Liver	Liver
17	chr12:46104200-46113000	Weak transcription	Dnd41	blood
18	chr12:46105000-46107000	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:46105000-46116600	Weak transcription	Fetal Kidney	kidney

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