Variant report

Variant	rs2524192
Chromosome Location	chr6:30450346-30450347
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr6:30449478-30450378	IMR90	lung:	n/a	chr6:30450282-30450291
2	CTCF	chr6:30449716-30450370	K562	blood:	n/a	n/a
3	CTCF	chr6:30449584-30450371	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:30449567..30450580-chr6:30512209..30513100,5	MCF-7	breast:
2	chr6:30449909..30451600-chr6:30563747..30566713,2	K562	blood:
3	chr6:30449627..30450458-chr6:30640495..30641401,4	MCF-7	breast:
4	chr6:30449686..30451639-chr6:30582069..30585092,3	MCF-7	breast:
5	chr6:30450075..30454964-chr6:30456336..30460057,8	MCF-7	breast:
6	chr6:30421088..30422240-chr6:30449570..30450644,10	MCF-7	breast:
7	chr6:30449909..30452819-chr6:30563358..30566713,3	K562	blood:
8	chr6:30422351..30425241-chr6:30448232..30450888,2	MCF-7	breast:
9	chr6:30449301..30451388-chr6:30582216..30584322,2	K562	blood:
10	chr6:30449539..30450477-chr6:30508895..30509868,3	K562	blood:
11	chr6:30449528..30450530-chr6:31054967..31055991,4	K562	blood:
12	chr6:30446384..30451689-chr6:30578094..30585004,12	MCF-7	breast:
13	chr6:30448715..30451618-chr6:30508372..30511107,3	MCF-7	breast:
14	chr6:30449554..30450473-chr6:30638194..30639125,2	K562	blood:
15	chr6:30449964..30450669-chr6:30512141..30513313,6	K562	blood:
16	chr6:30448170..30453321-chr6:30582822..30586539,6	K562	blood:
17	chr6:30449369..30451271-chr6:30688942..30690860,2	MCF-7	breast:
18	chr6:30447949..30451648-chr6:30569801..30572499,4	MCF-7	breast:
19	chr6:30435930..30438658-chr6:30450135..30452374,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
RANP1	TF binding region
ENSG00000204568	Chromatin interaction
ENSG00000204560	Chromatin interaction
ENSG00000224936	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000222894	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2021719	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2021720	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2105960	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4711220	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6921669	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7747873	0.86[ASN][1000 genomes]
rs7761210	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7764934	0.86[ASN][1000 genomes]
rs7775268	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9295898	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9295899	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380180	0.90[AMR][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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884069	chr6:30430875-30451474	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	nsv884070	chr6:30430875-30472772	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
7	nsv884076	chr6:30434566-30483919	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	30 gene(s)	inside rSNPs	diseases
8	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30448200-30450400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
2	chr6:30448400-30450400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr6:30450000-30450400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr6:30450000-30450400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr6:30450000-30453800	Weak transcription	Spleen	Spleen
6	chr6:30450200-30450400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:30450200-30450400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:30450200-30454400	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr6:30450200-30455600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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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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