Variant report

Variant	rs7652954
Chromosome Location	chr3:46407083-46407084
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	chr3:46394354..46395858-chr3:46405503..46408309,2	K562	blood:

Variant related genes	Relation type
ENSG00000121807	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11574431	1.00[EUR][1000 genomes]
rs11574437	1.00[EUR][1000 genomes]
rs11574440	1.00[MEX][hapmap];1.00[EUR][1000 genomes]
rs11574441	1.00[EUR][1000 genomes]
rs11575814	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11575817	1.00[EUR][1000 genomes]
rs11575818	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11575822	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13327723	1.00[EUR][1000 genomes]
rs17141003	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17141076	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17842821	1.00[EUR][1000 genomes]
rs17842822	1.00[EUR][1000 genomes]
rs2373253	1.00[EUR][1000 genomes]
rs3136536	1.00[EUR][1000 genomes]
rs3176763	1.00[ASW][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3181037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35212534	1.00[EUR][1000 genomes]
rs3918370	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3918385	1.00[GIH][hapmap]
rs41395345	1.00[EUR][1000 genomes]
rs41495153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55951695	1.00[EUR][1000 genomes]
rs56062522	1.00[EUR][1000 genomes]
rs5742906	1.00[GIH][hapmap]
rs57509359	1.00[EUR][1000 genomes]
rs57761566	1.00[EUR][1000 genomes]
rs58966767	1.00[EUR][1000 genomes]
rs59998539	1.00[EUR][1000 genomes]
rs60350631	1.00[EUR][1000 genomes]
rs61737000	1.00[EUR][1000 genomes]
rs6441969	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6770833	1.00[EUR][1000 genomes]
rs6776013	1.00[AMR][1000 genomes]
rs6798819	1.00[EUR][1000 genomes]
rs6801203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs723577	1.00[EUR][1000 genomes]
rs73830784	1.00[EUR][1000 genomes]
rs73831107	1.00[EUR][1000 genomes]
rs7611447	1.00[EUR][1000 genomes]
rs7614209	1.00[EUR][1000 genomes]
rs7638702	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7640084	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7640708	1.00[EUR][1000 genomes]
rs7650273	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9282632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46396000-46422000	Weak transcription	Lung	lung
2	chr3:46403000-46408000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46403800-46409600	Weak transcription	Fetal Intestine Large	intestine
4	chr3:46404000-46407400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr3:46404000-46409400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:46404000-46409400	Weak transcription	Fetal Thymus	thymus
7	chr3:46404200-46409400	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:46404400-46407400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr3:46404400-46409000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:46404400-46409200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr3:46404400-46409400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:46404400-46412400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:46404400-46422200	Weak transcription	Thymus	Thymus
14	chr3:46404400-46424600	Weak transcription	Spleen	Spleen
15	chr3:46404600-46409200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:46404600-46411200	Weak transcription	Small Intestine	intestine
17	chr3:46405400-46408000	Weak transcription	GM12878-XiMat	blood
18	chr3:46405600-46408000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr3:46406600-46407200	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr3:46407000-46408400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:46407000-46408600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr3:46407000-46411200	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr3:46407000-46412200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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