Variant report

Variant	rs59754516
Chromosome Location	chr3:46134573-46134574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46134509..46136387-chr3:46138174..46140252,2	MCF-7	breast:
2	chr3:46127005..46128993-chr3:46132615..46135304,2	K562	blood:
3	chr3:46133083..46135714-chr3:46137874..46140788,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10049103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1078355	1.00[AMR][1000 genomes]
rs12107160	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12107288	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13325425	1.00[EUR][1000 genomes]
rs1352880	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491951	0.81[AFR][1000 genomes]
rs1491954	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17078464	0.82[AMR][1000 genomes]
rs1846618	1.00[EUR][1000 genomes]
rs1873615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2088691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393246	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28454181	1.00[EUR][1000 genomes]
rs4630978	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55743140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56071453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56239523	0.82[AMR][1000 genomes]
rs56738797	1.00[AMR][1000 genomes]
rs57228214	0.82[AMR][1000 genomes]
rs57375372	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57590663	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57636813	0.84[AMR][1000 genomes]
rs57768435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57800045	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57887195	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58050797	0.82[AMR][1000 genomes]
rs58139750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58402224	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58442576	0.82[AMR][1000 genomes]
rs58460482	0.82[AMR][1000 genomes]
rs58491168	0.82[AMR][1000 genomes]
rs58969771	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59065510	1.00[EUR][1000 genomes]
rs59157393	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59676542	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60080146	1.00[AMR][1000 genomes]
rs61201782	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61276379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61598729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61686943	1.00[EUR][1000 genomes]
rs6788758	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6791693	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6794222	1.00[EUR][1000 genomes]
rs6798934	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885402	1.00[AMR][1000 genomes]
rs72887108	1.00[AMR][1000 genomes]
rs72887131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72887154	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889737	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889749	0.80[AFR][1000 genomes]
rs72889759	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891111	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891128	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891129	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891712	0.82[AMR][1000 genomes]
rs72899100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904134	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7427033	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7627147	0.82[AMR][1000 genomes]
rs7638236	0.82[AMR][1000 genomes]
rs978316	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978317	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814908	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9830945	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831926	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9844424	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9852295	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9854654	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9859291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9871934	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882976	0.91[AMR][1000 genomes];1.00[EUR][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	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	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46127200-46138200	Weak transcription	Primary T cells from cord blood	blood
2	chr3:46129200-46147400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:46129800-46140000	Enhancers	Fetal Thymus	thymus
5	chr3:46130200-46141200	Enhancers	Primary B cells from peripheral blood	blood
6	chr3:46130600-46143000	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:46130800-46135600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:46130800-46135800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr3:46131400-46134600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr3:46131400-46137400	Weak transcription	Colonic Mucosa	Colon
11	chr3:46131400-46138000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
13	chr3:46132000-46135800	Enhancers	Dnd41	blood
14	chr3:46132000-46139000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr3:46132000-46139000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr3:46132000-46140200	Enhancers	Primary hematopoietic stem cells	blood
17	chr3:46132200-46138000	Weak transcription	NHDF-Ad	bronchial
18	chr3:46132400-46138800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:46132400-46139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:46132600-46134600	Weak transcription	Spleen	Spleen
21	chr3:46132600-46137600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:46132600-46138000	Weak transcription	Adipose Nuclei	Adipose
23	chr3:46133200-46137400	Weak transcription	Placenta	Placenta
24	chr3:46133400-46134800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr3:46133400-46137800	Weak transcription	Small Intestine	intestine
26	chr3:46133600-46134600	Enhancers	Thymus	Thymus
27	chr3:46134200-46134600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr3:46134200-46134600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:46134200-46134600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:46134200-46134800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr3:46134200-46135200	Flanking Active TSS	GM12878-XiMat	blood
32	chr3:46134400-46134800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr3:46134400-46136200	Enhancers	Primary B cells from cord blood	blood
34	chr3:46134400-46137600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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