Variant report

Variant	rs7749797
Chromosome Location	chr6:128892148-128892149
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:128837776..128844055-chr6:128888331..128895856,20	MCF-7	breast:
2	chr6:128839379..128843736-chr6:128889671..128893980,5	MCF-7	breast:
3	chr6:128891848..128893690-chr6:128918592..128920144,2	MCF-7	breast:
4	chr6:128891192..128892170-chr6:128919419..128920258,2	MCF-7	breast:
5	chr6:128889715..128894242-chr6:128918492..128921414,6	MCF-7	breast:
6	chr6:128860900..128863492-chr6:128890884..128892503,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152894	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs9491978	0.85[YRI][hapmap]
rs9491979	0.85[YRI][hapmap]
rs9491980	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033443	chr6:128306654-128899203	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv538440	chr6:128306654-128899203	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:128887600-128892200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:128889600-128892400	Enhancers	HMEC	breast
3	chr6:128889600-128893800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:128890400-128892200	Enhancers	Placenta	Placenta
5	chr6:128890600-128892200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:128891000-128892200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:128891000-128892200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:128891000-128892200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:128891000-128892200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:128891000-128892200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:128891000-128892200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr6:128891200-128892200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:128891200-128892200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:128891200-128892200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr6:128891200-128892200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:128891200-128892200	Flanking Active TSS	HSMMtube	muscle
17	chr6:128891200-128892200	Flanking Active TSS	NHEK	skin
18	chr6:128891400-128892200	Flanking Active TSS	Hela-S3	cervix
19	chr6:128891600-128892200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:128891600-128892200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:128891600-128892200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:128891800-128892200	Enhancers	HSMM	muscle
23	chr6:128891800-128892200	Enhancers	NH-A	brain
24	chr6:128891800-128892600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:128891800-128893200	Weak transcription	NHLF	lung
26	chr6:128892000-128892200	Enhancers	Esophagus	oesophagus
27	chr6:128892000-128892200	Enhancers	A549	lung
28	chr6:128892000-128892200	Flanking Active TSS	NHDF-Ad	bronchial
29	chr6:128892000-128892600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:128892000-128894000	Enhancers	Osteobl	bone

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