Variant report

Variant	rs2216629
Chromosome Location	chr4:78270033-78270034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78269918..78271823-chr4:78272380..78274841,2	MCF-7	breast:
2	chr4:78266632..78268344-chr4:78268869..78271315,2	K562	blood:

Variant related genes	Relation type
ENSG00000248831	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10013386	0.90[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.86[MEX][hapmap]
rs10018010	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10518179	0.90[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap]
rs10518180	0.90[CEU][hapmap];0.81[CHB][hapmap]
rs11724731	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11933902	0.90[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs11941858	0.95[CEU][hapmap];0.81[CHB][hapmap]
rs11946669	0.90[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs12504998	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12505793	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1372784	0.90[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap]
rs1372785	0.90[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.86[MEX][hapmap]
rs1372786	0.90[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap]
rs1545252	0.89[CEU][hapmap]
rs1545253	0.90[CEU][hapmap];0.80[CHD][hapmap];0.86[MEX][hapmap]
rs17002668	0.90[CEU][hapmap];0.80[CHD][hapmap];0.86[MEX][hapmap]
rs1837968	0.90[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs1962026	0.90[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1962605	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2866281	0.84[CEU][hapmap];0.95[MEX][hapmap]
rs2866282	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2866284	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2866285	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28827478	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs36076516	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4359931	0.83[AMR][1000 genomes]
rs4579146	0.90[CEU][hapmap]
rs4859492	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4859493	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4859824	0.90[CEU][hapmap];1.00[MEX][hapmap]
rs4859827	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4859829	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4859831	0.90[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4859832	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4859833	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4859834	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56403473	0.87[ASN][1000 genomes]
rs6533028	0.90[CEU][hapmap];0.84[CHB][hapmap]
rs6533029	0.90[CEU][hapmap];0.80[CHD][hapmap];0.86[MEX][hapmap]
rs66500830	0.82[EUR][1000 genomes]
rs6817200	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6831412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6832575	0.90[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap]
rs6843922	0.85[ASN][1000 genomes]
rs6856470	0.90[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs7375525	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs7375603	1.00[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs7378081	0.90[CEU][hapmap];0.95[MEX][hapmap]
rs7679224	0.86[CEU][hapmap];0.81[CHB][hapmap];0.80[CHD][hapmap];0.86[MEX][hapmap]
rs7699246	0.90[CEU][hapmap];1.00[MEX][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs894433	0.86[CEU][hapmap]
rs894434	0.90[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap]
rs9307275	0.89[CEU][hapmap]

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	nsv1006017	chr4:78139780-78312974	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1002683	chr4:78170317-78281331	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1010450	chr4:78182037-78317840	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1004824	chr4:78188691-78312974	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1000447	chr4:78191608-78291173	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3468255	chr4:78237484-78277631	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv5935	chr4:78237568-78277734	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3468256	chr4:78237627-78277552	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv1845782	chr4:78237955-78321598	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv829974	chr4:78240718-78415642	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78265400-78270200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:78267400-78270200	Enhancers	Fetal Intestine Large	intestine
3	chr4:78269200-78270200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:78269400-78271800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:78269600-78271800	Enhancers	NHDF-Ad	bronchial
6	chr4:78269600-78271800	Enhancers	NHEK	skin
7	chr4:78269800-78271400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:78269800-78272000	Enhancers	HMEC	breast
9	chr4:78270000-78272000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:78270000-78273000	Weak transcription	Stomach Mucosa	stomach

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