Variant report

Variant	rs599157
Chromosome Location	chr3:138830889-138830890
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	chr3:138830591..138831327-chr3:138920891..138921850,5	MCF-7	breast:
2	chr3:138830444..138831348-chr3:138920931..138921772,3	K562	blood:
3	chr3:138830004..138832870-chr3:139047929..139048811,16	MCF-7	breast:
4	chr3:138830340..138831523-chr3:139047812..139048878,10	K562	blood:
5	chr3:138830352..138831184-chr3:139072519..139073327,2	MCF-7	breast:
6	chr3:138830459..138831302-chr3:138920846..138921696,3	MCF-7	breast:
7	chr3:138829485..138831006-chr3:139046744..139049335,2	K562	blood:
8	chr3:138830341..138831717-chr3:139047849..139048818,6	MCF-7	breast:

No data

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10513056	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs12493424	1.00[CEU][hapmap]
rs12632179	1.00[CEU][hapmap]
rs17486826	0.98[EUR][1000 genomes]
rs17559081	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs57102621	0.90[EUR][1000 genomes]
rs581530	1.00[CEU][hapmap]
rs583472	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs584059	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs586043	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs60339757	0.90[EUR][1000 genomes]
rs60884457	0.90[EUR][1000 genomes]
rs633876	1.00[CEU][hapmap]
rs649829	1.00[CEU][hapmap]
rs663729	1.00[CEU][hapmap]
rs676102	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs73864935	0.98[EUR][1000 genomes]
rs73864936	0.98[EUR][1000 genomes]
rs73866277	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv829736	chr3:138737352-138934758	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138820600-138839000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:138827400-138831200	Enhancers	Liver	Liver
3	chr3:138830600-138831000	Enhancers	HSMM	muscle
4	chr3:138830600-138831200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:138830600-138831200	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:138830600-138831200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
7	chr3:138830600-138831200	Enhancers	NHDF-Ad	bronchial
8	chr3:138830600-138831400	Enhancers	Brain Angular Gyrus	brain
9	chr3:138830600-138831400	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr3:138830800-138831000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:138830800-138831000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:138830800-138831000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
13	chr3:138830800-138831000	Enhancers	HMEC	breast
14	chr3:138830800-138831200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:138830800-138831200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr3:138830800-138831200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr3:138830800-138831200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr3:138830800-138831200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:138830800-138831200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:138830800-138831200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
21	chr3:138830800-138831200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:138830800-138831200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr3:138830800-138831200	Enhancers	Brain Anterior Caudate	brain
24	chr3:138830800-138831200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr3:138830800-138831200	Enhancers	Ovary	ovary
26	chr3:138830800-138831200	Enhancers	Pancreas	Pancrea
27	chr3:138830800-138831200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr3:138830800-138831400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:138830800-138833000	Enhancers	Brain Hippocampus Middle	brain

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