Variant report

Variant	rs6068810
Chromosome Location	chr20:52769351-52769352
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:95288063..95290182-chr20:52767433..52769417,2	MCF-7	breast:
2	chr17:56707032..56710436-chr20:52766357..52772037,9	MCF-7	breast:
3	chr17:56706368..56709577-chr20:52768047..52771187,3	MCF-7	breast:
4	chr17:56735424..56738028-chr20:52767765..52769885,2	MCF-7	breast:
5	chr17:59484574..59486757-chr20:52768086..52769759,2	MCF-7	breast:
6	chr17:59489837..59492539-chr20:52768488..52770171,2	MCF-7	breast:
7	chr17:57970442..57972111-chr20:52766595..52769433,2	MCF-7	breast:
8	chr20:45984855..45987152-chr20:52768501..52771128,2	MCF-7	breast:
9	chr20:52211908..52215151-chr20:52766884..52771883,4	MCF-7	breast:
10	chr20:52768988..52769787-chr20:52779061..52780220,3	MCF-7	breast:
11	chr20:52768317..52770399-chr20:52774857..52777374,2	K562	blood:
12	chr20:52769068..52771825-chr20:54966838..54969241,2	MCF-7	breast:

No data

No data

No data

Variant related genes	Relation type
ENSG00000121068	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000101040	Chromatin interaction
ENSG00000087586	Chromatin interaction
ENSG00000108443	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000101138	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1477636	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2031343	1.00[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs59835149	0.84[ASN][1000 genomes]
rs6068798	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6068809	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs6127109	0.93[ASN][1000 genomes]
rs6127111	0.93[ASN][1000 genomes]
rs6127112	0.86[CHB][hapmap];0.85[CHD][hapmap];0.93[ASN][1000 genomes]
rs67453922	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases
2	nsv912945	chr20:52746724-52772741	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv912946	chr20:52758416-52772741	Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv834010	chr20:52759824-52932939	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
5	nsv1063981	chr20:52765317-52776613	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2762085	chr20:52765329-52776625	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv586281	chr20:52765349-52771171	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1058882	chr20:52765979-52794372	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52768200-52769400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr20:52768400-52769800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:52768600-52769800	Enhancers	HMEC	breast
4	chr20:52768800-52769400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr20:52768800-52769400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr20:52768800-52769400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr20:52768800-52769400	Flanking Active TSS	NHEK	skin
8	chr20:52768800-52769600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:52768800-52769800	Enhancers	HepG2	liver
10	chr20:52768800-52790200	Transcr. at gene 5' and 3'	A549	lung
11	chr20:52769000-52769400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr20:52769000-52769400	Enhancers	Left Ventricle	heart
13	chr20:52769000-52769600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr20:52769000-52769800	Enhancers	Placenta	Placenta
15	chr20:52769200-52769400	Flanking Active TSS	Osteobl	bone
16	chr20:52769200-52769600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr20:52769200-52789400	Weak transcription	Esophagus	oesophagus

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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