Variant report

Variant	rs59699324
Chromosome Location	chr1:228308102-228308103
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228296490..228298272-chr1:228307329..228308840,2	K562	blood:
2	chr1:228302676..228304772-chr1:228307027..228309907,2	MCF-7	breast:
3	chr1:228305346..228307341-chr1:228307911..228310651,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUK1-2	chr1:228306596-228311865	NONHSAT009977

Variant related genes	Relation type
ENSG00000224566	Chromatin interaction
ENSG00000162910	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs2231715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2231720	1.00[AMR][1000 genomes]
rs56756911	1.00[AMR][1000 genomes]
rs56832724	1.00[AMR][1000 genomes]
rs56986798	1.00[AMR][1000 genomes]
rs57053910	1.00[AMR][1000 genomes]
rs57114383	1.00[AFR][1000 genomes]
rs61413658	1.00[AMR][1000 genomes]
rs6694537	1.00[AMR][1000 genomes]
rs6704401	1.00[AMR][1000 genomes]
rs73092912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092923	1.00[AMR][1000 genomes]
rs73092944	1.00[AMR][1000 genomes]
rs73092953	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092954	1.00[AMR][1000 genomes]
rs73092957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73092959	1.00[AMR][1000 genomes]
rs73092999	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095404	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73095424	1.00[AMR][1000 genomes]
rs73095429	1.00[AMR][1000 genomes]
rs73095437	1.00[AMR][1000 genomes]
rs73095449	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS 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	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
6	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
8	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
9	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	91 gene(s)	inside rSNPs	diseases
10	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228306400-228309800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:228307000-228308200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:228307200-228308200	Enhancers	Placenta	Placenta
4	chr1:228307200-228309000	Enhancers	HSMMtube	muscle
5	chr1:228307200-228309200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:228307400-228308200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:228307400-228308400	Enhancers	NHDF-Ad	bronchial
8	chr1:228307400-228308800	Enhancers	HMEC	breast
9	chr1:228307600-228308800	Flanking Active TSS	NHEK	skin
10	chr1:228307800-228308200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:228307800-228308200	Enhancers	Osteobl	bone
12	chr1:228307800-228308800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:228308000-228308200	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:228308000-228308200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr1:228308000-228308800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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