Variant report

Variant	rs6819870
Chromosome Location	chr4:122713059-122713060
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:122704373..122708206-chr4:122711994..122714423,4	K562	blood:
2	chr4:122711885..122714299-chr4:122714317..122717336,4	K562	blood:
3	chr4:122703955..122708206-chr4:122710788..122713882,5	K562	blood:
4	chr4:122707279..122709702-chr4:122712277..122713983,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10002280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13105974	0.95[ASN][1000 genomes]
rs13106485	1.00[ASN][1000 genomes]
rs1532968	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17517624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2661553	1.00[ASN][1000 genomes]
rs2661555	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2706791	1.00[ASN][1000 genomes]
rs2706792	1.00[ASN][1000 genomes]
rs2706793	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2706796	0.92[ASN][1000 genomes]
rs28665553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4240261	0.80[AMR][1000 genomes]
rs4295291	1.00[ASN][1000 genomes]
rs4342205	0.80[AMR][1000 genomes]
rs4370153	0.89[MEX][hapmap]
rs4496602	0.83[CEU][hapmap]
rs4519820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4629472	0.83[CEU][hapmap]
rs4833774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4995894	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6534319	0.80[AMR][1000 genomes]
rs6534321	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6534325	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6823686	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6830128	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6836290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838198	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6841843	0.90[CHB][hapmap]
rs7661641	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7665098	0.80[AMR][1000 genomes]
rs7690095	0.97[ASN][1000 genomes]
rs7690991	0.80[AMR][1000 genomes]
rs906493	0.82[CHB][hapmap]
rs9999982	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6819870	FGF2	cis	cerebellum	SCAN
rs6819870	CCNA2	cis	cerebellum	SCAN
rs6819870	MYOZ2	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122706800-122713200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:122706800-122713200	Enhancers	NHDF-Ad	bronchial
3	chr4:122708800-122713600	Enhancers	Osteobl	bone
4	chr4:122709000-122713600	Enhancers	HSMM	muscle
5	chr4:122709400-122713600	Enhancers	NH-A	brain
6	chr4:122711000-122713200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:122711000-122715800	Weak transcription	GM12878-XiMat	blood
8	chr4:122711200-122713200	Enhancers	HSMMtube	muscle
9	chr4:122711200-122713600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr4:122711600-122713400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:122711600-122713800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:122711800-122714000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:122711800-122715400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:122711800-122715800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:122711800-122721800	Weak transcription	Fetal Stomach	stomach
16	chr4:122711800-122721800	Weak transcription	HMEC	breast
17	chr4:122712000-122714200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr4:122712000-122714200	Weak transcription	NHEK	skin
19	chr4:122712200-122713400	Enhancers	K562	blood
20	chr4:122712200-122720800	Weak transcription	Fetal Intestine Large	intestine
21	chr4:122712200-122721600	Weak transcription	A549	lung
22	chr4:122712400-122717000	Weak transcription	HUVEC	blood vessel
23	chr4:122712800-122713400	Enhancers	Fetal Thymus	thymus
24	chr4:122712800-122715200	Weak transcription	Fetal Heart	heart
25	chr4:122712800-122716000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:122713000-122713200	Enhancers	Thymus	Thymus
27	chr4:122713000-122715400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:122713000-122715600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:122713000-122717000	Weak transcription	NHLF	lung

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