Variant report

Variant	rs1251274
Chromosome Location	chr1:76288587-76288588
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: 185 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:177)

rs_ID	r²[population]
rs1021462	0.86[CHB][hapmap]
rs1021464	0.85[EUR][1000 genomes]
rs10465725	0.82[YRI][hapmap]
rs10732724	0.82[JPT][hapmap]
rs10873724	0.94[ASN][1000 genomes]
rs10873727	0.95[ASN][1000 genomes]
rs10873728	0.95[ASN][1000 genomes]
rs10873735	0.87[ASN][1000 genomes]
rs10873738	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10873739	0.95[ASN][1000 genomes]
rs1093006	0.83[ASN][1000 genomes]
rs1093009	0.83[ASN][1000 genomes]
rs11161447	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs11161465	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs11161600	0.82[ASN][1000 genomes]
rs11161602	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs11161605	0.80[ASN][1000 genomes]
rs11161700	0.95[ASN][1000 genomes]
rs11161704	1.00[ASN][1000 genomes]
rs11161731	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs11161790	0.86[ASN][1000 genomes]
rs11161795	0.86[ASN][1000 genomes]
rs11161852	0.81[CHB][hapmap]
rs11161872	0.82[YRI][hapmap]
rs11161887	0.81[JPT][hapmap]
rs11162066	0.85[CHB][hapmap]
rs1144328	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1144331	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144333	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144337	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144338	0.95[ASN][1000 genomes]
rs1144339	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144341	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1144342	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146572	0.84[ASN][1000 genomes]
rs1146592	0.88[ASN][1000 genomes]
rs1146593	0.89[ASN][1000 genomes]
rs1146602	0.93[ASN][1000 genomes]
rs1146613	0.87[ASN][1000 genomes]
rs1146616	0.95[ASN][1000 genomes]
rs1146625	0.90[ASN][1000 genomes]
rs1146645	1.00[CEU][hapmap];0.99[ASN][1000 genomes]
rs1146647	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1146648	0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1146649	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1146651	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1146652	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1146656	0.95[ASN][1000 genomes]
rs11579355	0.95[ASN][1000 genomes]
rs12021750	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs12022011	0.87[CHB][hapmap]
rs12024086	0.86[ASN][1000 genomes]
rs12024645	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12027620	0.84[CHB][hapmap]
rs12032051	0.81[CHB][hapmap]
rs12033058	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs12044025	0.91[JPT][hapmap]
rs12045299	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12064158	0.81[CHB][hapmap]
rs12074938	0.91[AFR][1000 genomes]
rs12076093	0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12078151	0.95[ASN][1000 genomes]
rs12079065	0.86[AFR][1000 genomes]
rs12079211	0.91[AFR][1000 genomes]
rs12081631	0.87[AFR][1000 genomes]
rs12081710	0.95[ASN][1000 genomes]
rs12090389	0.82[YRI][hapmap]
rs12090712	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs12164500	0.83[YRI][hapmap]
rs12385715	0.95[ASN][1000 genomes]
rs12401729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs12403889	0.96[ASN][1000 genomes]
rs12405178	0.95[ASN][1000 genomes]
rs12407107	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12409592	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs1250875	0.84[ASN][1000 genomes]
rs1250876	0.81[JPT][hapmap]
rs1250877	0.84[ASN][1000 genomes]
rs1250878	0.84[ASN][1000 genomes]
rs1250881	0.90[ASN][1000 genomes]
rs1250882	1.00[ASN][1000 genomes]
rs1251065	0.84[ASN][1000 genomes]
rs1251077	0.81[ASN][1000 genomes]
rs1251078	0.90[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1251079	0.90[CHB][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs1251270	1.00[ASN][1000 genomes]
rs1251272	0.90[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs1251273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1251275	0.95[ASN][1000 genomes]
rs12703	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12728962	0.82[ASN][1000 genomes]
rs12732495	0.85[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs12732722	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12744608	0.85[CHB][hapmap]
rs12745456	0.81[CHB][hapmap]
rs12748900	0.80[ASN][1000 genomes]
rs12756349	0.82[ASN][1000 genomes]
rs12757213	0.81[ASN][1000 genomes]
rs1303870	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs1323734	0.83[ASN][1000 genomes]
rs13376397	0.86[AFR][1000 genomes]
rs1438175	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs1466817	0.92[MKK][hapmap]
rs1498313	0.85[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap]
rs1586936	0.85[EUR][1000 genomes]
rs1603734	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs1621198	0.83[ASN][1000 genomes]
rs1631498	0.85[ASN][1000 genomes]
rs1689271	0.81[CHD][hapmap];0.85[JPT][hapmap]
rs1694428	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs17097567	0.94[AFR][1000 genomes]
rs17097681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs17097695	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs17097696	0.82[YRI][hapmap]
rs17097710	0.93[LWK][hapmap];0.81[YRI][hapmap]
rs1767459	0.86[ASN][1000 genomes]
rs1770513	0.87[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs1796812	0.81[CHD][hapmap];0.81[JPT][hapmap]
rs1812589	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1908089	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs1960528	0.83[ASN][1000 genomes]
rs2012536	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2047435	0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap]
rs2066213	1.00[CEU][hapmap];0.81[CHB][hapmap]
rs2307077	0.90[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap]
rs2788655	0.83[ASN][1000 genomes]
rs34045364	0.95[ASN][1000 genomes]
rs34177389	0.95[ASN][1000 genomes]
rs35290302	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs35591768	0.95[ASN][1000 genomes]
rs36054685	0.92[ASN][1000 genomes]
rs3737574	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs3765682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs3819949	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs4347163	0.83[ASN][1000 genomes]
rs4949884	0.95[ASN][1000 genomes]
rs5019550	0.95[ASN][1000 genomes]
rs56350137	0.95[ASN][1000 genomes]
rs5745309	0.92[ASW][hapmap];0.93[LWK][hapmap];0.95[MKK][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes]
rs5745314	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs5745327	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5745334	0.81[CHB][hapmap];0.87[JPT][hapmap]
rs5745343	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745353	0.83[ASN][1000 genomes]
rs5745354	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745392	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5745429	0.81[CHB][hapmap]
rs5745448	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs5745451	0.90[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap]
rs5745465	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap]
rs5745496	0.82[YRI][hapmap]
rs5745516	0.93[LWK][hapmap];0.95[MKK][hapmap];0.81[YRI][hapmap]
rs5745523	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs5745542	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap]
rs5745546	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs61676733	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6687882	0.90[CHB][hapmap]
rs6695055	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs696677	0.82[ASN][1000 genomes]
rs696679	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs699677	0.83[ASN][1000 genomes]
rs699683	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs699824	0.83[ASN][1000 genomes]
rs699825	0.85[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs7514912	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7516477	0.81[JPT][hapmap]
rs7525919	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs7548391	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs7548991	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs814851	0.83[ASN][1000 genomes]
rs814855	0.83[ASN][1000 genomes]
rs814873	0.80[ASN][1000 genomes]
rs814874	0.80[ASN][1000 genomes]
rs815309	0.85[ASN][1000 genomes]
rs931506	1.00[CEU][hapmap];0.84[CHB][hapmap];0.87[JPT][hapmap]
rs9660848	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs9970840	0.92[ASW][hapmap];0.96[LWK][hapmap];0.97[MKK][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes]

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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76262600-76288800	Weak transcription	Brain Substantia Nigra	brain
2	chr1:76262600-76294600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:76263000-76289000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:76263000-76296200	Weak transcription	Ovary	ovary
5	chr1:76263400-76289000	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:76264200-76291400	Weak transcription	Psoas Muscle	Psoas
7	chr1:76264600-76288600	Weak transcription	Left Ventricle	heart
8	chr1:76264800-76288600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr1:76264800-76288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr1:76279600-76288600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr1:76282200-76295200	Weak transcription	Right Ventricle	heart
12	chr1:76287200-76289000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:76287400-76290000	Weak transcription	HSMMtube	muscle

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