Variant report

Variant	rs1149530
Chromosome Location	chr7:16848375-16848376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16847748..16852819-chr7:16884544..16888713,8	MCF-7	breast:
2	chr7:16846231..16849111-chr7:16853009..16855819,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10085386	0.83[AMR][1000 genomes]
rs10253218	0.83[AMR][1000 genomes]
rs10263864	0.83[AMR][1000 genomes]
rs10264144	0.83[AMR][1000 genomes]
rs10275787	0.86[AMR][1000 genomes]
rs1149529	0.83[AMR][1000 genomes]
rs12154501	0.86[AMR][1000 genomes]
rs1404965	0.81[AMR][1000 genomes]
rs1404970	0.81[AMR][1000 genomes]
rs1563782	0.83[AMR][1000 genomes]
rs1608878	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1830068	0.83[AMR][1000 genomes]
rs2061472	1.00[AFR][1000 genomes]
rs6461279	0.83[AMR][1000 genomes]
rs6970631	0.81[AMR][1000 genomes]
rs706072	0.80[AMR][1000 genomes]
rs706074	0.80[AMR][1000 genomes]
rs73679864	1.00[ASN][1000 genomes]
rs7780106	0.83[AMR][1000 genomes]
rs7783269	0.83[AMR][1000 genomes]
rs7791790	0.86[AMR][1000 genomes]
rs7796749	0.83[AMR][1000 genomes]
rs7803549	0.83[AMR][1000 genomes]
rs7807024	0.83[AMR][1000 genomes]
rs818800	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv887761	chr7:16834361-17732490	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv887762	chr7:16834361-17746628	Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv887763	chr7:16834361-17750811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv887764	chr7:16839835-17218800	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv887765	chr7:16839835-17750811	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16844600-16854800	Weak transcription	Small Intestine	intestine
2	chr7:16845400-16848400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:16845400-16852200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr7:16845400-16852800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:16846000-16850200	Weak transcription	Hela-S3	cervix
6	chr7:16846200-16850400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:16846800-16849400	Weak transcription	Fetal Intestine Large	intestine
8	chr7:16848000-16848400	Weak transcription	A549	lung
9	chr7:16848000-16858200	Enhancers	Stomach Mucosa	stomach
10	chr7:16848200-16849400	Weak transcription	Fetal Intestine Small	intestine
11	chr7:16848200-16850200	Weak transcription	Rectal Mucosa Donor 29	rectum

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