Variant report

Variant	rs1016027
Chromosome Location	chr7:84652988-84652989
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SMC3	chr7:84652202-84653562	SK-N-SH	brain:	n/a	chr7:84652586-84652594 chr7:84652580-84652594 chr7:84652580-84652590
2	CTCF	chr7:84652193-84653060	SK-N-SH	brain:	n/a	chr7:84652581-84652591 chr7:84652573-84652594 chr7:84652578-84652596 chr7:84652584-84652593 chr7:84652580-84652593 chr7:84652579-84652595
3	CTCF	chr7:84652175-84653246	A549	lung:	n/a	chr7:84652581-84652591 chr7:84652573-84652594 chr7:84652578-84652596 chr7:84652584-84652593 chr7:84652580-84652593 chr7:84652579-84652595
4	CTCF	chr7:84652880-84653030	AG10803	skin:	n/a	n/a
5	RAD21	chr7:84651621-84653718	SK-N-SH	brain:	n/a	chr7:84652576-84652595 chr7:84652580-84652590 chr7:84652579-84652592

No.	Distal block	Cell Line	Cell type
1	chr7:83605262..83606224-chr7:84652102..84653080,8	K562	blood:
2	chr7:84119744..84120746-chr7:84652245..84653462,3	MCF-7	breast:
3	chr7:83565163..83566042-chr7:84652056..84653009,4	K562	blood:
4	chr7:83605355..83608289-chr7:84651623..84654249,2	K562	blood:
5	chr7:83040070..83040585-chr7:84652141..84653036,2	K562	blood:

Variant related genes	Relation type
HSPA8P16	TF binding region

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10225455	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10231441	0.82[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10237102	0.95[EUR][1000 genomes]
rs10244898	0.91[EUR][1000 genomes]
rs10247311	0.86[EUR][1000 genomes]
rs10256889	0.90[EUR][1000 genomes]
rs10260131	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10261725	0.96[CEU][hapmap];0.96[GIH][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs10264465	0.87[EUR][1000 genomes]
rs10267189	0.90[EUR][1000 genomes]
rs10268216	0.92[EUR][1000 genomes]
rs10271823	0.92[EUR][1000 genomes]
rs10277834	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10281252	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10282482	0.87[EUR][1000 genomes]
rs10486845	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs10486847	0.85[CEU][hapmap];0.86[GIH][hapmap]
rs11760335	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11766179	0.89[EUR][1000 genomes]
rs11771699	0.87[EUR][1000 genomes]
rs11980498	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11980984	0.95[EUR][1000 genomes]
rs11982720	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.82[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12112643	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12113270	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12154971	0.95[EUR][1000 genomes]
rs12155292	0.95[EUR][1000 genomes]
rs12707691	0.94[EUR][1000 genomes]
rs12707692	0.94[EUR][1000 genomes]
rs12707693	0.91[EUR][1000 genomes]
rs12707695	0.94[EUR][1000 genomes]
rs12707696	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13230423	0.91[EUR][1000 genomes]
rs13231019	0.94[EUR][1000 genomes]
rs13231340	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13232515	0.91[EUR][1000 genomes]
rs13232613	0.91[EUR][1000 genomes]
rs13232789	0.90[EUR][1000 genomes]
rs13233871	0.94[EUR][1000 genomes]
rs13234489	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13234914	0.94[EUR][1000 genomes]
rs13240751	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs13242253	0.86[EUR][1000 genomes]
rs13244179	0.91[EUR][1000 genomes]
rs13307855	0.92[EUR][1000 genomes]
rs1468396	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1528621	0.91[EUR][1000 genomes]
rs1534565	0.82[EUR][1000 genomes]
rs1534566	0.86[EUR][1000 genomes]
rs1534572	0.89[EUR][1000 genomes]
rs16887803	0.82[CHD][hapmap]
rs17159470	0.90[EUR][1000 genomes]
rs17159549	0.82[CHD][hapmap]
rs17558957	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs17559084	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs17559978	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.88[JPT][hapmap];0.83[TSI][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17639510	0.95[EUR][1000 genomes]
rs17639600	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1919282	0.94[EUR][1000 genomes]
rs2040954	0.92[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040957	0.92[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2103312	0.96[CEU][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes]
rs2141415	0.91[EUR][1000 genomes]
rs2158727	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178236	0.91[EUR][1000 genomes]
rs2190211	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2190213	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2214820	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2240393	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2286185	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2286189	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286190	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2372503	0.91[EUR][1000 genomes]
rs2372510	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2372511	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28819164	0.91[EUR][1000 genomes]
rs34004921	0.94[EUR][1000 genomes]
rs34134012	0.93[EUR][1000 genomes]
rs34462522	0.91[EUR][1000 genomes]
rs34584772	0.91[EUR][1000 genomes]
rs34931062	0.95[EUR][1000 genomes]
rs34996468	0.94[EUR][1000 genomes]
rs35003658	0.95[EUR][1000 genomes]
rs35367762	0.86[EUR][1000 genomes]
rs35449238	0.91[EUR][1000 genomes]
rs35600623	0.94[EUR][1000 genomes]
rs35826544	0.94[EUR][1000 genomes]
rs35853835	0.94[EUR][1000 genomes]
rs35948002	0.85[EUR][1000 genomes]
rs36201011	0.81[EUR][1000 genomes]
rs4141132	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4560742	0.91[EUR][1000 genomes]
rs56039102	0.95[EUR][1000 genomes]
rs56227953	0.84[EUR][1000 genomes]
rs57531424	0.95[EUR][1000 genomes]
rs59006756	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62472060	0.88[EUR][1000 genomes]
rs62472062	0.88[EUR][1000 genomes]
rs62472078	0.91[EUR][1000 genomes]
rs62472081	0.90[EUR][1000 genomes]
rs62472087	0.91[EUR][1000 genomes]
rs62472088	0.91[EUR][1000 genomes]
rs62472110	0.95[EUR][1000 genomes]
rs62472151	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468010	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959903	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6962714	0.93[EUR][1000 genomes]
rs6965396	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs713153	0.91[EUR][1000 genomes]
rs713154	0.94[EUR][1000 genomes]
rs71560707	0.91[EUR][1000 genomes]
rs7776699	0.91[EUR][1000 genomes]
rs7777682	0.91[EUR][1000 genomes]
rs7780675	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7788896	0.94[EUR][1000 genomes]
rs7790637	0.91[EUR][1000 genomes]
rs7790809	0.91[EUR][1000 genomes]
rs7793364	0.82[CHD][hapmap]
rs7793649	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794144	0.91[EUR][1000 genomes]
rs7794619	0.91[EUR][1000 genomes]
rs7794920	0.94[EUR][1000 genomes]
rs7798487	0.90[EUR][1000 genomes]
rs7800072	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7801626	0.91[EUR][1000 genomes]
rs7803548	0.94[EUR][1000 genomes]
rs7806400	0.96[CEU][hapmap];0.96[GIH][hapmap];0.97[TSI][hapmap]
rs7807283	0.91[EUR][1000 genomes]
rs7809383	0.94[EUR][1000 genomes]
rs9642196	0.91[EUR][1000 genomes]
rs9942642	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84634200-84654000	Weak transcription	Fetal Kidney	kidney
2	chr7:84643000-84654000	Weak transcription	HUVEC	blood vessel
3	chr7:84644600-84662600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:84649600-84654800	Weak transcription	Fetal Lung	lung
5	chr7:84649800-84654600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:84649800-84654800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:84652400-84654600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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