Variant report

Variant	rs60829665
Chromosome Location	chr3:46150903-46150904
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46148560..46157677-chr3:46203034..46208483,12	MCF-7	breast:
2	chr3:46145999..46148966-chr3:46149561..46152328,4	K562	blood:
3	chr3:46150790..46153435-chr3:46242926..46245585,2	MCF-7	breast:
4	chr3:46145905..46148811-chr3:46150645..46152455,3	MCF-7	breast:
5	chr3:46145999..46148622-chr3:46149561..46152053,3	K562	blood:
6	chr3:46130825..46132979-chr3:46149857..46153032,4	MCF-7	breast:
7	chr3:46149777..46152755-chr3:46160739..46163366,2	MCF-7	breast:
8	chr3:46149539..46152315-chr3:46168852..46171063,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183625	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1500006	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17078579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41395345	1.00[AMR][1000 genomes]
rs57509359	1.00[AMR][1000 genomes]
rs57857531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58692140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59253523	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59862185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60854606	1.00[AMR][1000 genomes]
rs73830722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830725	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830726	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830733	1.00[AFR][1000 genomes]
rs73830737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830784	1.00[AMR][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46129400-46154200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr3:46131400-46152200	Weak transcription	Pancreas	Pancrea
3	chr3:46143800-46153000	Enhancers	Fetal Thymus	thymus
4	chr3:46145200-46152400	Enhancers	Dnd41	blood
5	chr3:46146800-46164400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:46147600-46151400	Enhancers	Thymus	Thymus
7	chr3:46148200-46152800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr3:46148400-46160200	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:46148600-46152800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr3:46148800-46151400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:46148800-46152800	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr3:46149000-46151200	Enhancers	Small Intestine	intestine
13	chr3:46149000-46151600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:46149000-46152000	Enhancers	GM12878-XiMat	blood
15	chr3:46149000-46152000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr3:46149200-46151400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr3:46149200-46158800	Enhancers	NHLF	lung
18	chr3:46149200-46159800	Enhancers	Placenta	Placenta
19	chr3:46149400-46151400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr3:46149400-46152800	Enhancers	HSMM	muscle
21	chr3:46149600-46151400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:46149600-46151400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:46149600-46152600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:46149800-46151000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:46150000-46151000	Enhancers	Brain Germinal Matrix	brain
26	chr3:46150000-46151200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr3:46150000-46151200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:46150000-46151200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:46150000-46151200	Enhancers	Duodenum Mucosa	Duodenum
30	chr3:46150000-46151200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr3:46150000-46151600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr3:46150000-46151600	Enhancers	NHEK	skin
33	chr3:46150000-46152400	Enhancers	Hela-S3	cervix
34	chr3:46150000-46153000	Enhancers	Fetal Lung	lung
35	chr3:46150000-46157600	Enhancers	HMEC	breast
36	chr3:46150200-46151200	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr3:46150200-46151200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:46150200-46152200	Weak transcription	Fetal Stomach	stomach
39	chr3:46150200-46152400	Enhancers	Primary B cells from cord blood	blood
40	chr3:46150200-46152600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:46150400-46151000	Enhancers	Spleen	Spleen
42	chr3:46150400-46151200	Enhancers	Primary B cells from peripheral blood	blood
43	chr3:46150400-46151400	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr3:46150400-46151400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr3:46150400-46151400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:46150400-46151600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr3:46150400-46151600	Enhancers	NH-A	brain
48	chr3:46150400-46158800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:46150600-46151000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr3:46150600-46151000	Enhancers	Liver	Liver

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