Variant report

Variant	rs4128119
Chromosome Location	chr8:92156541-92156542
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92154407..92157062-chr8:92186719..92188314,2	K562	blood:
2	chr8:92155872..92157525-chr8:92209191..92211411,2	K562	blood:
3	chr8:92150726..92152514-chr8:92154521..92157433,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263888	Chromatin interaction

Extended variants
information (count: 150 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10093786	0.88[GIH][hapmap];0.83[TSI][hapmap]
rs10096149	0.83[ASN][1000 genomes]
rs10100069	0.84[ASN][1000 genomes]
rs10110267	0.85[GIH][hapmap]
rs10111323	0.86[ASN][1000 genomes]
rs10216413	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs10942	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10956790	0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs10956791	0.82[ASN][1000 genomes]
rs10956792	0.86[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs10956793	0.82[ASN][1000 genomes]
rs10956794	1.00[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10956795	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956796	0.84[CEU][hapmap]
rs11777826	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11778758	1.00[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11780533	0.88[EUR][1000 genomes]
rs11783034	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11783986	0.85[EUR][1000 genomes]
rs11785003	1.00[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11991823	0.84[EUR][1000 genomes]
rs11992004	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs12334996	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12540975	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12545969	0.82[ASN][1000 genomes]
rs12545986	0.91[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs12546650	0.86[GIH][hapmap]
rs12549426	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs12677214	0.90[ASN][1000 genomes]
rs13252561	0.86[CHB][hapmap]
rs13261830	0.86[CHB][hapmap]
rs13265714	0.85[CHB][hapmap]
rs13280667	0.81[CHB][hapmap]
rs34520902	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs34548877	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs35066004	0.86[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs35606777	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3808378	0.86[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap]
rs3885968	0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs3885969	0.86[CHB][hapmap];0.88[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];0.92[ASN][1000 genomes]
rs3923174	0.91[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs4129720	0.86[CHB][hapmap];0.88[GIH][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs4259381	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs4259383	0.85[ASN][1000 genomes]
rs4329236	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4338063	0.84[CEU][hapmap]
rs4354267	0.82[EUR][1000 genomes]
rs4360257	0.84[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4373488	0.86[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap]
rs4374950	0.84[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4392858	0.83[CEU][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4419777	0.83[GIH][hapmap]
rs4419778	0.84[CEU][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs4422739	0.86[EUR][1000 genomes]
rs4430056	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs4446697	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs4476968	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs4493873	0.85[GIH][hapmap]
rs4501547	0.95[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs4501548	0.86[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap]
rs4501550	0.85[GIH][hapmap]
rs4501551	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs4504594	0.84[EUR][1000 genomes]
rs4515506	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4515507	0.84[TSI][hapmap]
rs4524748	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4577919	1.00[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.83[LWK][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4596614	0.91[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap]
rs4620242	1.00[ASW][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4624988	0.81[EUR][1000 genomes]
rs4637780	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs5029071	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55762572	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55775840	0.81[ASN][1000 genomes]
rs56004977	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56306245	0.84[ASN][1000 genomes]
rs57771593	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs61279214	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62526682	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62526683	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62526685	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62526686	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62526707	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62526730	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6471267	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6471268	0.91[CHB][hapmap];0.98[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs6471269	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs6471270	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs6471271	0.84[CEU][hapmap];0.85[EUR][1000 genomes]
rs6471272	0.85[EUR][1000 genomes]
rs6981068	0.85[EUR][1000 genomes]
rs6984580	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6987761	0.80[EUR][1000 genomes]
rs6987902	0.83[EUR][1000 genomes]
rs6988216	0.85[EUR][1000 genomes]
rs6989184	0.85[EUR][1000 genomes]
rs6993713	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs6994215	0.85[EUR][1000 genomes]
rs6994793	0.80[CEU][hapmap];0.85[EUR][1000 genomes]
rs6995363	0.85[EUR][1000 genomes]
rs7000062	0.81[EUR][1000 genomes]
rs7002093	0.85[EUR][1000 genomes]
rs7005674	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7007966	0.85[EUR][1000 genomes]
rs7009170	0.84[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7009178	0.83[ASN][1000 genomes]
rs7010715	0.84[CEU][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap]
rs7015018	0.85[EUR][1000 genomes]
rs7015294	0.84[CEU][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.88[EUR][1000 genomes]
rs7815938	0.88[GIH][hapmap]
rs7816107	0.86[ASN][1000 genomes]
rs7820904	0.86[CHB][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap]
rs7821050	0.84[CEU][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap]
rs7822260	0.84[EUR][1000 genomes]
rs7822774	0.84[CEU][hapmap]
rs7822807	0.84[CEU][hapmap]
rs7823844	0.83[CEU][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap]
rs7832592	0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs7832896	0.88[GIH][hapmap];0.84[TSI][hapmap]
rs7841266	0.84[ASN][1000 genomes]
rs7842678	0.84[CEU][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap]
rs7843665	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7844122	0.84[CEU][hapmap];0.95[GIH][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs7844277	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7845508	0.88[GIH][hapmap];0.84[TSI][hapmap]
rs7846033	0.84[CEU][hapmap];0.97[GIH][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8081	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs9643319	0.86[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs9918929	0.86[CHB][hapmap];0.88[GIH][hapmap];0.81[JPT][hapmap]
rs9987161	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription 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	22 gene(s)	inside rSNPs	diseases
6	nsv611721	chr8:92107070-92183658	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv891186	chr8:92110936-92187738	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv891187	chr8:92110936-92188940	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv891188	chr8:92110936-92191011	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv533559	chr8:92116009-92175700	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1027865	chr8:92118995-92179965	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1024251	chr8:92118995-92186057	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv525292	chr8:92123208-92174115	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv465736	chr8:92123208-92174115	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv611722	chr8:92123208-92174115	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv611723	chr8:92123208-92183658	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv891189	chr8:92123208-92188940	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1028288	chr8:92124763-92186057	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	esv2757282	chr8:92127463-92183838	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	esv35058	chr8:92127463-92218776	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4128119	RUNX1T1	cis	cerebellum	SCAN
rs4128119	INTS8	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92144000-92157800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr8:92147000-92165600	Weak transcription	Psoas Muscle	Psoas
3	chr8:92153200-92157000	Enhancers	Rectal Smooth Muscle	rectum
4	chr8:92155600-92158600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:92155800-92157800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:92156400-92156800	Enhancers	Adipose Nuclei	Adipose

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