Variant report

Variant	rs627249
Chromosome Location	chr4:119188832-119188833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:119188533..119192564-chr4:119193298..119197687,4	K562	blood:
2	chr4:119187535..119189508-chr4:119199337..119201369,2	K562	blood:
3	chr4:119184690..119186337-chr4:119187913..119189860,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000269893	Chromatin interaction

Extended variants
information (count: 176 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:167)

rs_ID	r²[population]
rs10000812	0.89[ASN][1000 genomes]
rs10008049	0.88[ASN][1000 genomes]
rs10014096	0.87[ASN][1000 genomes]
rs10015232	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10016285	0.88[ASN][1000 genomes]
rs10021781	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10023699	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10026541	0.85[ASN][1000 genomes]
rs10033308	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10033412	0.86[ASN][1000 genomes]
rs1022287	0.85[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs1022288	0.85[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs1040105	0.82[ASN][1000 genomes]
rs10440400	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11098424	0.84[ASN][1000 genomes]
rs11098425	0.84[ASN][1000 genomes]
rs11098427	0.88[ASN][1000 genomes]
rs11098428	0.88[ASN][1000 genomes]
rs1110948	0.84[ASN][1000 genomes]
rs11728724	0.87[ASN][1000 genomes]
rs11730541	0.85[ASN][1000 genomes]
rs11736688	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11937777	0.86[ASN][1000 genomes]
rs11947071	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12505156	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12508017	0.86[ASN][1000 genomes]
rs12711064	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13104129	0.80[ASN][1000 genomes]
rs13111697	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13114621	0.86[ASN][1000 genomes]
rs13114895	0.86[ASN][1000 genomes]
rs13120959	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs13124806	0.83[ASN][1000 genomes]
rs13126882	0.85[ASN][1000 genomes]
rs13127321	0.85[ASN][1000 genomes]
rs13134901	0.88[ASN][1000 genomes]
rs1319938	0.86[ASN][1000 genomes]
rs1514657	1.00[CHD][hapmap];0.86[JPT][hapmap];0.85[TSI][hapmap];0.84[ASN][1000 genomes]
rs1514659	0.86[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1523742	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs2049362	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2140475	0.91[ASN][1000 genomes]
rs2389513	0.84[ASN][1000 genomes]
rs2389514	0.84[ASN][1000 genomes]
rs2389515	0.84[ASN][1000 genomes]
rs2389516	0.84[ASN][1000 genomes]
rs2389517	0.84[ASN][1000 genomes]
rs2389518	0.84[ASN][1000 genomes]
rs2389519	0.84[ASN][1000 genomes]
rs2389520	0.85[ASN][1000 genomes]
rs2389521	0.83[ASN][1000 genomes]
rs2389522	0.85[ASN][1000 genomes]
rs2389523	0.85[ASN][1000 genomes]
rs2389524	0.85[ASN][1000 genomes]
rs2389525	0.86[ASN][1000 genomes]
rs2389526	0.86[ASN][1000 genomes]
rs2389527	0.86[ASN][1000 genomes]
rs2389618	0.88[YRI][hapmap]
rs2389620	0.89[ASN][1000 genomes]
rs2892788	0.85[ASN][1000 genomes]
rs2892789	0.85[ASN][1000 genomes]
rs2892790	0.85[ASN][1000 genomes]
rs2892791	0.86[ASN][1000 genomes]
rs2892799	0.92[ASN][1000 genomes]
rs4131600	0.88[ASN][1000 genomes]
rs4240316	0.86[ASN][1000 genomes]
rs4240317	0.86[ASN][1000 genomes]
rs4240318	0.86[ASN][1000 genomes]
rs4279285	0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs4280816	0.86[ASN][1000 genomes]
rs4362895	0.93[ASN][1000 genomes]
rs4397073	0.88[ASN][1000 genomes]
rs4452509	0.86[ASN][1000 genomes]
rs4546313	0.98[ASN][1000 genomes]
rs4566725	0.86[ASN][1000 genomes]
rs4569819	0.86[ASN][1000 genomes]
rs4576085	0.86[ASN][1000 genomes]
rs4616829	0.86[ASN][1000 genomes]
rs4833560	0.88[ASN][1000 genomes]
rs4833561	0.88[ASN][1000 genomes]
rs4833563	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4833566	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4833567	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4833571	0.85[LWK][hapmap];0.86[YRI][hapmap]
rs4834657	0.86[ASN][1000 genomes]
rs4834660	0.88[ASN][1000 genomes]
rs4834661	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4834664	0.88[ASN][1000 genomes]
rs4834665	0.88[ASN][1000 genomes]
rs4834666	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4834679	1.00[CHD][hapmap];0.86[JPT][hapmap];0.92[TSI][hapmap];0.89[ASN][1000 genomes]
rs4834681	0.87[ASN][1000 genomes]
rs581739	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs582448	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs586073	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs586224	0.80[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs593966	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs597881	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs607961	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs608228	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs610222	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs613083	0.80[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs613443	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs615165	0.93[ASN][1000 genomes]
rs615837	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs617140	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62328865	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62328871	1.00[ASN][1000 genomes]
rs625546	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs641962	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs644797	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6534082	0.85[ASN][1000 genomes]
rs662086	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs674514	0.99[ASN][1000 genomes]
rs678177	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6810739	0.81[ASN][1000 genomes]
rs6820061	0.86[ASN][1000 genomes]
rs6820108	0.84[ASN][1000 genomes]
rs6823125	0.88[ASN][1000 genomes]
rs6823295	0.88[ASN][1000 genomes]
rs6825105	0.86[ASN][1000 genomes]
rs6828232	0.87[ASN][1000 genomes]
rs6828552	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6837896	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6838716	0.84[ASN][1000 genomes]
rs6842393	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6848037	0.86[ASN][1000 genomes]
rs6848598	0.86[ASN][1000 genomes]
rs6851494	0.87[ASN][1000 genomes]
rs6857041	0.88[ASN][1000 genomes]
rs6857232	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs705838	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs705841	0.92[ASN][1000 genomes]
rs7435948	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7439663	0.86[ASN][1000 genomes]
rs7655439	0.85[ASN][1000 genomes]
rs7655519	0.85[ASN][1000 genomes]
rs7669243	0.85[ASN][1000 genomes]
rs7671232	0.86[ASN][1000 genomes]
rs7671359	0.86[ASN][1000 genomes]
rs7671434	0.85[ASN][1000 genomes]
rs7671515	0.86[ASN][1000 genomes]
rs7671562	0.86[ASN][1000 genomes]
rs7679658	0.86[ASN][1000 genomes]
rs7681830	0.84[ASN][1000 genomes]
rs7685325	0.88[ASN][1000 genomes]
rs7686670	0.82[ASN][1000 genomes]
rs7695706	0.86[ASN][1000 genomes]
rs7699653	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs788647	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs788650	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs788651	0.85[CHB][hapmap];0.92[JPT][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs788655	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs788656	1.00[CHD][hapmap];0.93[JPT][hapmap];0.92[TSI][hapmap];0.91[ASN][1000 genomes]
rs788658	0.86[CHB][hapmap];0.93[JPT][hapmap];0.92[ASN][1000 genomes]
rs788661	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788662	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs788668	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs788669	0.87[ASN][1000 genomes]
rs871769	0.82[ASN][1000 genomes]
rs871770	0.82[ASN][1000 genomes]
rs908152	0.82[ASN][1000 genomes]
rs9307452	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9637622	0.86[ASN][1000 genomes]
rs9637623	0.86[ASN][1000 genomes]
rs9790637	0.86[ASN][1000 genomes]
rs9995675	0.88[ASN][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119186000-119191200	Weak transcription	Dnd41	blood
2	chr4:119187000-119190000	Weak transcription	A549	lung
3	chr4:119187200-119190200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:119187200-119196400	Weak transcription	Liver	Liver
5	chr4:119187200-119199000	Weak transcription	Colonic Mucosa	Colon
6	chr4:119187200-119199400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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