Variant report

Variant	rs7748465
Chromosome Location	chr6:128919596-128919597
allele	A/G
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:128840068..128843152-chr6:128919180..128921740,3	MCF-7	breast:
2	chr6:128839123..128844576-chr6:128915695..128924187,20	MCF-7	breast:
3	chr6:128889715..128894242-chr6:128918492..128921414,6	MCF-7	breast:
4	chr6:128848533..128850915-chr6:128919226..128921374,2	MCF-7	breast:
5	chr6:128834237..128835841-chr6:128918392..128920731,2	MCF-7	breast:
6	chr6:128899252..128902077-chr6:128918932..128921970,3	MCF-7	breast:
7	chr6:128891192..128892170-chr6:128919419..128920258,2	MCF-7	breast:
8	chr6:128919408..128920317-chr6:129017818..129018321,2	MCF-7	breast:
9	chr6:128918449..128923023-chr6:128923258..128928829,7	MCF-7	breast:
10	chr6:128918845..128920868-chr6:128977642..128979259,2	MCF-7	breast:
11	chr6:128891848..128893690-chr6:128918592..128920144,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213130	Chromatin interaction
ENSG00000152894	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13437530	0.94[AFR][1000 genomes]
rs13437537	0.94[AFR][1000 genomes]
rs7356814	0.84[AFR][1000 genomes]
rs7356816	0.84[AFR][1000 genomes]
rs7751016	0.94[AFR][1000 genomes]
rs7760423	0.94[AFR][1000 genomes]
rs9482899	0.88[AFR][1000 genomes]
rs9491981	0.89[YRI][hapmap]
rs9491992	0.94[AFR][1000 genomes]
rs9491993	0.94[AFR][1000 genomes]
rs9491995	0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs9491998	0.94[AFR][1000 genomes]
rs9492016	0.89[YRI][hapmap];0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv830801	chr6:128878436-129064667	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128916000-128923400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:128916400-128922800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr6:128916600-128923200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:128916600-128923400	Enhancers	HMEC	breast
5	chr6:128917400-128921600	Weak transcription	Left Ventricle	heart
6	chr6:128917600-128921000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:128917600-128921400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:128917800-128920600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:128918200-128922400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:128918200-128922600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr6:128918400-128920000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:128918400-128921200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr6:128918600-128919600	Weak transcription	HSMM	muscle
14	chr6:128918800-128920000	Weak transcription	Osteobl	bone
15	chr6:128918800-128920400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:128918800-128921400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr6:128918800-128921400	Enhancers	NH-A	brain
18	chr6:128918800-128922600	Enhancers	NHDF-Ad	bronchial
19	chr6:128919000-128920200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:128919000-128922800	Enhancers	Fetal Heart	heart
21	chr6:128919400-128920000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:128919400-128920400	Flanking Active TSS	NHEK	skin
23	chr6:128919400-128921200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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