Variant report

Variant	rs71312578
Chromosome Location	chr3:138157914-138157915
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:138152454..138155577-chr3:138156985..138161293,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000158220	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10513053	0.86[ASN][1000 genomes]
rs11923795	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34078858	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34382779	0.86[ASN][1000 genomes]
rs57521136	0.86[ASN][1000 genomes]
rs58059555	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59217491	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73864577	0.86[AFR][1000 genomes]
rs9828345	0.86[ASN][1000 genomes]
rs9843291	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised 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
4	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv999041	chr3:138148812-138347988	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138154400-138159200	Weak transcription	HepG2	liver
2	chr3:138154600-138159200	Weak transcription	Right Ventricle	heart
3	chr3:138154800-138160000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr3:138155000-138158000	Weak transcription	Colon Smooth Muscle	Colon
5	chr3:138155000-138158000	Weak transcription	Pancreas	Pancrea
6	chr3:138155000-138159000	Bivalent Enhancer	Fetal Muscle Leg	muscle
7	chr3:138155000-138182800	Weak transcription	Gastric	stomach
8	chr3:138155200-138169200	Weak transcription	Brain Angular Gyrus	brain
9	chr3:138155600-138161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr3:138156000-138158600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr3:138156000-138175800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:138156200-138158400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr3:138156600-138170400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:138156800-138159600	Weak transcription	Lung	lung
15	chr3:138157000-138163400	Enhancers	HSMMtube	muscle
16	chr3:138157400-138158000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:138157400-138158400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:138157400-138159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:138157400-138163400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr3:138157600-138160600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:138157600-138161400	Enhancers	HSMM	muscle
22	chr3:138157600-138162600	Enhancers	NHDF-Ad	bronchial
23	chr3:138157800-138158000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:138157800-138160000	Bivalent Enhancer	Fetal Stomach	stomach
25	chr3:138157800-138161800	Enhancers	Osteobl	bone

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