Variant report

Variant	rs6930544
Chromosome Location	chr6:54765098-54765099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:54758702..54760512-chr6:54764567..54767361,2	MCF-7	breast:
2	chr6:54761027..54762719-chr6:54763197..54766123,2	MCF-7	breast:
3	chr6:54763489..54765995-chr6:54799336..54801622,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12111423	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6909227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6926885	1.00[AMR][1000 genomes]
rs6935216	1.00[AMR][1000 genomes]
rs7773327	1.00[AFR][1000 genomes];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	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54758000-54769400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr6:54758000-54775000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:54761800-54766800	Enhancers	Fetal Lung	lung
4	chr6:54762000-54769000	Weak transcription	Stomach Mucosa	stomach
5	chr6:54762000-54775000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:54762200-54775000	Weak transcription	Fetal Intestine Small	intestine
7	chr6:54763000-54765800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:54763200-54768200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:54763600-54768600	Weak transcription	HMEC	breast
10	chr6:54763600-54775000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:54764200-54765600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:54764200-54765600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:54764200-54766000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:54764400-54765200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:54764400-54765600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:54764400-54765800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:54764800-54765200	Weak transcription	GM12878-XiMat	blood
18	chr6:54764800-54766000	Enhancers	Fetal Heart	heart
19	chr6:54764800-54768600	Weak transcription	NHEK	skin
20	chr6:54765000-54765200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:54765000-54765800	Enhancers	HUES6 Cell Line	embryonic stem cell

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