Variant report

Variant	rs17002568
Chromosome Location	chr4:78269396-78269397
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:78266632..78268344-chr4:78268869..78271315,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10000203	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10021013	0.90[ASN][1000 genomes]
rs10022216	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10023142	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10024634	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10025816	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10031995	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10034168	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12502190	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs1559121	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs17002573	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17002574	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17002575	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17002578	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17002614	0.91[ASN][1000 genomes]
rs17002672	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs28408985	0.90[ASN][1000 genomes]
rs28470829	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28509428	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28510834	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28558753	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28640182	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2866283	0.90[ASN][1000 genomes]
rs28697219	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28715173	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3886412	1.00[CEU][hapmap];0.87[CHB][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4146559	0.82[CEU][hapmap];0.81[CHB][hapmap]
rs4426805	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4447887	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4643843	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4859826	0.82[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs56704522	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57854205	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58210020	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58493318	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58763343	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59017002	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59225688	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59383601	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59548585	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59817506	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60084947	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60847680	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs60994753	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61041046	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61482056	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61559911	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6819777	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6829872	1.00[YRI][hapmap]
rs6843981	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6848365	0.83[ASN][1000 genomes]
rs6849731	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7657699	0.82[CEU][hapmap];0.81[CHB][hapmap];0.96[GIH][hapmap]
rs7666881	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9307270	0.82[CEU][hapmap];0.87[CHB][hapmap];0.80[CHD][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.90[ASN][1000 genomes]
rs9994349	0.82[CEU][hapmap];0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 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
11	esv3465517	chr4:78269181-78269834	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3525427	chr4:78269225-78269805	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3525426	chr4:78269233-78269768	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv471765	chr4:78269242-78269775	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3465516	chr4:78269256-78269755	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv3525428	chr4:78269262-78269789	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv822622	chr4:78269291-78269801	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv3465515	chr4:78269309-78269730	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	esv3450040	chr4:78269319-78269728	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
20	esv3465518	chr4:78269323-78269726	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
21	esv3525429	chr4:78269323-78269726	Weak transcription Enhancers	Chromatin interactive region	n/a	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	chr4:78266200-78270000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:78266400-78269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:78266600-78269800	Weak transcription	HMEC	breast
5	chr4:78267400-78269800	Enhancers	Fetal Intestine Small	intestine
6	chr4:78267400-78270000	Enhancers	Stomach Mucosa	stomach
7	chr4:78267400-78270200	Enhancers	Fetal Intestine Large	intestine
8	chr4:78268400-78269400	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:78268800-78269400	Enhancers	HepG2	liver
10	chr4:78269200-78270200	Weak transcription	Rectal Mucosa Donor 31	rectum

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