Variant report

Variant	rs7781531
Chromosome Location	chr7:5578489-5578490
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	chr7:5578000..5580875-chr7:5586668..5588468,2	MCF-7	breast:
2	chr7:5578292..5581169-chr7:5636207..5637791,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11763573	1.00[ASN][1000 genomes]
rs12530811	1.00[ASN][1000 genomes]
rs13234174	1.00[ASN][1000 genomes]
rs4072619	1.00[ASN][1000 genomes]
rs4724668	1.00[ASN][1000 genomes]
rs73055803	1.00[ASN][1000 genomes]
rs852374	1.00[ASN][1000 genomes]
rs852400	1.00[ASN][1000 genomes]
rs852406	1.00[ASN][1000 genomes]
rs852417	1.00[ASN][1000 genomes]
rs852522	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv887407	chr7:5432672-5605130	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	302 gene(s)	inside rSNPs	diseases
10	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
11	nsv526194	chr7:5452756-5592436	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	278 gene(s)	inside rSNPs	diseases
12	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
13	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
14	nsv887413	chr7:5521468-5607884	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	279 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5572600-5585800	Weak transcription	Pancreas	Pancrea
2	chr7:5572600-5594600	Weak transcription	Right Atrium	heart
3	chr7:5573800-5587600	Weak transcription	Hela-S3	cervix
4	chr7:5576400-5579200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr7:5576800-5581000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:5577200-5578800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:5577200-5578800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr7:5577200-5579000	Enhancers	Primary B cells from peripheral blood	blood
9	chr7:5577200-5579200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:5577400-5578600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr7:5577400-5578800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr7:5577400-5578800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr7:5577400-5579000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr7:5577400-5579000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:5577600-5579000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr7:5577800-5578600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:5577800-5578800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr7:5577800-5579000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr7:5577800-5579000	Enhancers	Primary B cells from cord blood	blood
20	chr7:5577800-5579000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr7:5577800-5579000	Enhancers	Fetal Thymus	thymus
22	chr7:5578000-5578600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr7:5578000-5578600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr7:5578000-5578600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr7:5578000-5578600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr7:5578000-5578800	Enhancers	Primary hematopoietic stem cells	blood
27	chr7:5578000-5578800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:5578000-5578800	Enhancers	Fetal Muscle Leg	muscle
29	chr7:5578000-5579000	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:5578200-5578800	Enhancers	Spleen	Spleen
31	chr7:5578200-5580800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:5578400-5578600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:5578400-5578600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr7:5578400-5578600	Enhancers	K562	blood
35	chr7:5578400-5578800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:5578400-5578800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:5578400-5578800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr7:5578400-5579000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:5578400-5579000	Enhancers	Stomach Smooth Muscle	stomach

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