Variant report

Variant	rs852383
Chromosome Location	chr7:5624052-5624053
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	chr7:5614656..5616510-chr7:5623918..5626080,2	MCF-7	breast:

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10951961	0.83[AMR][1000 genomes]
rs11763027	0.83[AMR][1000 genomes]
rs1628786	1.00[AMR][1000 genomes]
rs1725186	1.00[AMR][1000 genomes]
rs1990835	0.83[AMR][1000 genomes]
rs2161012	0.83[AMR][1000 genomes]
rs2693951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881234	0.83[AMR][1000 genomes]
rs2908421	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3943984	0.83[AMR][1000 genomes]
rs4720636	0.83[AMR][1000 genomes]
rs4724714	0.83[AMR][1000 genomes]
rs4724720	0.83[AMR][1000 genomes]
rs4724721	0.83[AMR][1000 genomes]
rs6463508	0.83[AMR][1000 genomes]
rs710939	1.00[AMR][1000 genomes]
rs710940	1.00[AMR][1000 genomes]
rs710942	1.00[AMR][1000 genomes]
rs7790499	0.83[AMR][1000 genomes]
rs852260	0.83[AMR][1000 genomes]
rs852262	1.00[AMR][1000 genomes]
rs852264	1.00[AMR][1000 genomes]
rs852377	0.83[AMR][1000 genomes]
rs852381	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs852384	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs852398	1.00[AMR][1000 genomes]
rs852399	1.00[AMR][1000 genomes]
rs852401	1.00[AMR][1000 genomes]
rs852404	1.00[AMR][1000 genomes]
rs852407	1.00[AMR][1000 genomes]
rs852408	1.00[AMR][1000 genomes]
rs852412	1.00[AMR][1000 genomes]
rs852413	1.00[AMR][1000 genomes]
rs852416	1.00[AMR][1000 genomes]
rs852419	1.00[AMR][1000 genomes]
rs852437	0.85[AMR][1000 genomes]
rs852440	0.85[AMR][1000 genomes]
rs852443	1.00[AMR][1000 genomes]
rs852449	1.00[AMR][1000 genomes]
rs852451	1.00[AMR][1000 genomes]
rs852458	1.00[AMR][1000 genomes]
rs852462	0.85[AMR][1000 genomes]
rs852465	1.00[AMR][1000 genomes]
rs852475	0.85[AMR][1000 genomes]
rs852476	1.00[AMR][1000 genomes]
rs852480	1.00[AMR][1000 genomes]
rs852487	0.85[AMR][1000 genomes]
rs852490	1.00[AMR][1000 genomes]
rs852492	0.85[ASN][1000 genomes]
rs852495	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs852496	0.83[ASN][1000 genomes]
rs852497	0.82[EUR][1000 genomes]
rs852501	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs852503	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs852504	0.81[ASN][1000 genomes]
rs852509	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs852518	1.00[AMR][1000 genomes]
rs852523	1.00[AMR][1000 genomes]
rs852524	1.00[AMR][1000 genomes]
rs852525	1.00[AMR][1000 genomes]
rs852528	0.81[ASN][1000 genomes]
rs852536	1.00[AMR][1000 genomes]
rs852541	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs852543	1.00[AMR][1000 genomes]
rs852544	1.00[AMR][1000 genomes]
rs941016	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv981427	chr7:5620739-5626996	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5619400-5629800	Weak transcription	Spleen	Spleen
2	chr7:5619400-5631000	Weak transcription	K562	blood
3	chr7:5621000-5626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:5621000-5626200	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:5621000-5631000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:5621000-5631000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:5621000-5631200	Weak transcription	Right Ventricle	heart
8	chr7:5621000-5631600	Weak transcription	Pancreas	Pancrea
9	chr7:5621200-5624400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:5621200-5624600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr7:5621200-5626000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr7:5621200-5631400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:5621400-5625200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr7:5621400-5631000	Weak transcription	Ovary	ovary
15	chr7:5623000-5624200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:5623000-5624400	Enhancers	Adipose Nuclei	Adipose
17	chr7:5623000-5624400	Enhancers	HepG2	liver
18	chr7:5623200-5629800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:5623800-5625600	Enhancers	GM12878-XiMat	blood

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