Variant report

Variant	rs1251272
Chromosome Location	chr1:76289004-76289005
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	chr1:76257881..76260713-chr1:76287046..76289517,2	K562	blood:

Variant related genes	Relation type
ENSG00000137955	Chromatin interaction

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:148)

rs_ID	r²[population]
rs1021462	0.87[CHB][hapmap]
rs10732724	0.84[JPT][hapmap]
rs10782556	0.83[ASN][1000 genomes]
rs10873724	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873727	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873728	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873735	0.83[ASN][1000 genomes]
rs10873738	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10873739	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161447	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs11161465	0.84[JPT][hapmap]
rs11161602	0.82[CHB][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs11161688	0.82[AFR][1000 genomes]
rs11161700	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11161704	0.95[ASN][1000 genomes]
rs11161718	0.81[AFR][1000 genomes]
rs11161731	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs11161790	0.90[ASN][1000 genomes]
rs11161795	0.90[ASN][1000 genomes]
rs11161852	0.83[CHB][hapmap]
rs11161887	0.84[JPT][hapmap]
rs1144328	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1144331	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1144333	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1144337	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1144338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144339	0.95[ASN][1000 genomes]
rs1144341	0.95[ASN][1000 genomes]
rs1144342	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1146572	0.80[ASN][1000 genomes]
rs1146592	0.84[ASN][1000 genomes]
rs1146593	0.85[ASN][1000 genomes]
rs1146602	0.89[ASN][1000 genomes]
rs1146613	0.83[ASN][1000 genomes]
rs1146616	0.90[ASN][1000 genomes]
rs1146625	0.86[ASN][1000 genomes]
rs1146645	0.95[ASN][1000 genomes]
rs1146647	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1146648	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1146649	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1146651	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1146652	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1146656	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12021750	0.83[CHB][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs12022011	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs12024086	0.90[ASN][1000 genomes]
rs12024645	0.82[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12027620	0.82[CHB][hapmap]
rs12031600	0.81[ASN][1000 genomes]
rs12032051	0.83[CHB][hapmap]
rs12033058	0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12033059	0.83[ASN][1000 genomes]
rs12044025	0.95[JPT][hapmap]
rs12045299	0.85[JPT][hapmap]
rs12045363	0.83[ASN][1000 genomes]
rs12049212	0.81[ASN][1000 genomes]
rs12076093	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12078151	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081710	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090712	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12385715	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12401729	0.90[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs12403889	0.92[ASN][1000 genomes]
rs12405178	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12407107	0.82[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs12409592	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs1250875	0.80[ASN][1000 genomes]
rs1250876	0.84[JPT][hapmap]
rs1250877	0.80[ASN][1000 genomes]
rs1250878	0.80[ASN][1000 genomes]
rs1250881	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1250882	0.95[ASN][1000 genomes]
rs1251065	0.80[ASN][1000 genomes]
rs1251078	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs1251079	0.90[CHB][hapmap];0.84[JPT][hapmap]
rs1251270	0.95[ASN][1000 genomes]
rs1251273	0.95[ASN][1000 genomes]
rs1251274	0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1251275	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564772	0.83[ASN][1000 genomes]
rs12567390	0.81[CHB][hapmap]
rs12703	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12732495	0.87[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.87[TSI][hapmap]
rs12732722	0.85[JPT][hapmap]
rs12734931	0.80[AFR][1000 genomes]
rs12745456	0.82[CHB][hapmap];0.80[JPT][hapmap]
rs12748900	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1303870	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs1498313	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs1603734	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1631498	0.81[ASN][1000 genomes]
rs1689271	0.81[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]
rs1694428	0.86[CHB][hapmap]
rs17097634	0.83[ASN][1000 genomes]
rs17097681	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs17097695	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs1767459	0.82[ASN][1000 genomes]
rs1770513	0.83[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs1796812	0.87[CHD][hapmap];0.85[JPT][hapmap]
rs1812589	0.98[ASN][1000 genomes]
rs1908089	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs2012536	0.95[ASN][1000 genomes]
rs2047435	0.93[ASW][hapmap];0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];0.84[JPT][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];0.88[TSI][hapmap];0.80[YRI][hapmap]
rs2131558	0.83[ASN][1000 genomes]
rs2307077	0.91[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap]
rs34045364	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34177389	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34486572	0.83[ASN][1000 genomes]
rs35290302	0.82[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs35591768	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36054685	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3737574	0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs3765682	0.90[CHB][hapmap];0.97[CHD][hapmap];0.90[JPT][hapmap]
rs3819949	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4347163	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4949884	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5019550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350137	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745314	0.83[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs5745327	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5745334	0.83[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs5745343	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5745354	0.91[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5745392	0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs5745429	0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs5745448	0.84[JPT][hapmap]
rs5745451	0.93[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs5745465	0.90[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap]
rs5745523	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs5745532	0.86[CHB][hapmap]
rs5745542	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs5745546	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs58552356	0.81[ASN][1000 genomes]
rs61676733	0.92[ASN][1000 genomes]
rs6687882	0.81[CHB][hapmap]
rs6695055	0.85[JPT][hapmap]
rs696679	0.87[CHB][hapmap]
rs699683	0.87[CHB][hapmap];0.81[ASN][1000 genomes]
rs699825	0.87[CHB][hapmap]
rs7514912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7516477	0.84[JPT][hapmap]
rs7525919	0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs7548391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7548991	0.84[JPT][hapmap]
rs815309	0.81[ASN][1000 genomes]
rs931506	0.80[JPT][hapmap]
rs9660848	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1795237	chr1:76268573-76383565	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1800125	chr1:76269439-76379497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1799260	chr1:76269439-76383297	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1847721	chr1:76269439-76383565	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1466	chr1:76280957-76299478	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76262600-76294600	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76263000-76296200	Weak transcription	Ovary	ovary
3	chr1:76264200-76291400	Weak transcription	Psoas Muscle	Psoas
4	chr1:76282200-76295200	Weak transcription	Right Ventricle	heart
5	chr1:76287400-76290000	Weak transcription	HSMMtube	muscle
6	chr1:76288600-76289200	ZNF genes & repeats	Brain Anterior Caudate	brain
7	chr1:76288600-76289200	ZNF genes & repeats	Left Ventricle	heart
8	chr1:76288600-76289400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr1:76288600-76289400	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
10	chr1:76288800-76289200	ZNF genes & repeats	Brain Angular Gyrus	brain
11	chr1:76288800-76289400	ZNF genes & repeats	Brain Substantia Nigra	brain

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