Variant report

Variant	rs10230904
Chromosome Location	chr7:112839193-112839194
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:112836739..112839262-chr7:112840349..112843254,3	K562	blood:
2	chr7:112838409..112840932-chr7:112848283..112850469,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10224243	0.97[ASN][1000 genomes]
rs10232767	1.00[ASN][1000 genomes]
rs10245889	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257223	0.94[EUR][1000 genomes]
rs10260432	1.00[ASN][1000 genomes]
rs10260702	0.97[ASN][1000 genomes]
rs10267575	0.91[EUR][1000 genomes]
rs10267803	0.91[EUR][1000 genomes]
rs10268166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278248	0.97[ASN][1000 genomes]
rs10279811	1.00[ASN][1000 genomes]
rs10500022	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11505916	1.00[ASN][1000 genomes]
rs12668635	0.91[EUR][1000 genomes]
rs12670645	0.91[EUR][1000 genomes]
rs12672763	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1525309	1.00[ASN][1000 genomes]
rs1578938	1.00[ASN][1000 genomes]
rs1917762	0.97[ASN][1000 genomes]
rs28380351	0.94[EUR][1000 genomes]
rs28398308	0.94[EUR][1000 genomes]
rs28583227	1.00[ASN][1000 genomes]
rs28690390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28754698	0.91[EUR][1000 genomes]
rs28775005	0.91[EUR][1000 genomes]
rs4727779	1.00[ASN][1000 genomes]
rs60549935	0.94[EUR][1000 genomes]
rs73715560	0.92[EUR][1000 genomes]
rs7787425	0.97[ASN][1000 genomes]
rs7800551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3355135	chr7:112616979-113134651	Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv435847	chr7:112618576-113134022	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3430638	chr7:112620663-113134403	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3442221	chr7:112620665-113134971	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv993501	chr7:112625029-113125338	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1022066	chr7:112630168-113122748	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv539090	chr7:112630168-113122748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv889059	chr7:112755548-112908788	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv889060	chr7:112766082-112994137	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112836600-112840600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:112836600-112841000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:112836800-112840400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:112837200-112839600	Weak transcription	NH-A	brain
5	chr7:112837800-112839600	Weak transcription	HMEC	breast
6	chr7:112838200-112839800	Enhancers	NHLF	lung
7	chr7:112838200-112840200	Enhancers	NHDF-Ad	bronchial
8	chr7:112838400-112840200	Enhancers	Adipose Nuclei	Adipose
9	chr7:112838400-112843800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:112838800-112839800	Weak transcription	Osteobl	bone
11	chr7:112839000-112839400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:112839000-112839400	Weak transcription	Fetal Brain Male	brain
13	chr7:112839000-112839400	Weak transcription	HSMM	muscle
14	chr7:112839000-112839800	Enhancers	Fetal Brain Female	brain

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