Variant report

Variant	rs9844424
Chromosome Location	chr3:46147209-46147210
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46145999..46148966-chr3:46149561..46152328,4	K562	blood:
2	chr3:46145905..46148811-chr3:46150645..46152455,3	MCF-7	breast:
3	chr3:46145999..46148622-chr3:46149561..46152053,3	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10049103	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1078355	0.91[AMR][1000 genomes]
rs12107160	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12107288	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13325425	1.00[EUR][1000 genomes]
rs1352880	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1491951	0.83[AFR][1000 genomes]
rs1491954	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1846618	1.00[EUR][1000 genomes]
rs1873615	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036294	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2036296	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2088691	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28393246	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28454181	1.00[EUR][1000 genomes]
rs4630978	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55743140	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56071453	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56738797	0.91[AMR][1000 genomes]
rs57375372	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57590663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57768435	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57800045	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57887195	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58139750	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58402224	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58969771	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59065510	1.00[EUR][1000 genomes]
rs59157393	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59676542	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59754516	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60080146	0.91[AMR][1000 genomes]
rs61201782	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61276379	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61598729	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61686943	1.00[EUR][1000 genomes]
rs6788758	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6791693	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6798934	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72885402	0.91[AMR][1000 genomes]
rs72887108	0.91[AMR][1000 genomes]
rs72887131	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72887154	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889737	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72889749	0.80[AFR][1000 genomes]
rs72889759	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891128	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72891129	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72899100	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72904134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73830713	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73833519	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7427033	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978316	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs978317	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9814908	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9830945	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831926	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9852295	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9854654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9859291	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9871934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9882976	0.83[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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46129200-46147400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
4	chr3:46139200-46150600	Weak transcription	Lung	lung
5	chr3:46140400-46149200	Weak transcription	NHLF	lung
6	chr3:46140400-46150000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr3:46140600-46150000	Weak transcription	Hela-S3	cervix
8	chr3:46140600-46150000	Weak transcription	HMEC	breast
9	chr3:46140800-46150000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr3:46141000-46148800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:46141000-46150200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:46142800-46147400	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr3:46143200-46150600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:46143400-46147400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr3:46143800-46153000	Enhancers	Fetal Thymus	thymus
16	chr3:46144200-46147400	Enhancers	Primary T cells fromperipheralblood	blood
17	chr3:46144800-46149200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:46144800-46150600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:46145000-46147800	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr3:46145200-46152400	Enhancers	Dnd41	blood
21	chr3:46145800-46147400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr3:46145800-46147800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr3:46146000-46147400	Enhancers	Primary B cells from peripheral blood	blood
24	chr3:46146000-46147400	Enhancers	Esophagus	oesophagus
25	chr3:46146000-46147400	Enhancers	Fetal Stomach	stomach
26	chr3:46146000-46147400	Enhancers	GM12878-XiMat	blood
27	chr3:46146000-46148000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr3:46146200-46148000	Enhancers	Fetal Lung	lung
29	chr3:46146200-46150200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:46146400-46150400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:46146400-46150600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr3:46146600-46147400	Enhancers	Spleen	Spleen
33	chr3:46146600-46150200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr3:46146800-46147600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr3:46146800-46149200	Weak transcription	Placenta	Placenta
36	chr3:46146800-46164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr3:46147200-46149600	Weak transcription	Primary B cells from cord blood	blood
38	chr3:46147200-46150600	Weak transcription	Primary T cells from cord blood	blood

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