Variant report

Variant	rs56767915
Chromosome Location	chr1:186411012-186411013
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	chr1:186410632..186413152-chr1:186416805..186419247,2	K562	blood:
2	chr1:186410546..186412201-chr1:186413904..186416292,2	K562	blood:

Variant related genes	Relation type
ENSG00000116703	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10489392	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10489393	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798041	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798042	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10798044	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10798045	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10798046	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10798047	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10798048	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10798049	0.93[EUR][1000 genomes]
rs10911860	0.85[EUR][1000 genomes]
rs10911861	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911863	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911864	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911866	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911867	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10911868	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911869	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911870	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911871	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911872	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911873	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10911874	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10911879	0.95[EUR][1000 genomes]
rs10911880	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10911882	0.93[EUR][1000 genomes]
rs10911883	0.93[EUR][1000 genomes]
rs10911884	0.90[EUR][1000 genomes]
rs10911885	0.91[EUR][1000 genomes]
rs10911886	0.89[EUR][1000 genomes]
rs10911887	0.89[EUR][1000 genomes]
rs10911889	0.88[EUR][1000 genomes]
rs11484607	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11487358	0.95[EUR][1000 genomes]
rs11576701	0.84[EUR][1000 genomes]
rs11578436	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11578514	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11578546	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11585033	0.88[EUR][1000 genomes]
rs11585801	0.87[EUR][1000 genomes]
rs11589235	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11589637	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11590457	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12057695	0.91[EUR][1000 genomes]
rs12061722	0.88[EUR][1000 genomes]
rs12062166	0.95[EUR][1000 genomes]
rs12062679	0.91[EUR][1000 genomes]
rs12062743	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12071770	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12072014	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12076100	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12077211	0.89[EUR][1000 genomes]
rs12078657	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12080265	0.95[EUR][1000 genomes]
rs12081060	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12085604	0.95[EUR][1000 genomes]
rs12085848	0.95[EUR][1000 genomes]
rs12085968	0.95[EUR][1000 genomes]
rs12089016	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12089127	0.95[EUR][1000 genomes]
rs12089415	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12092372	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12094398	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12096518	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12097208	0.95[EUR][1000 genomes]
rs12401657	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12402484	0.91[EUR][1000 genomes]
rs12402766	0.88[EUR][1000 genomes]
rs12402797	0.88[EUR][1000 genomes]
rs12403321	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12404135	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12404145	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12406189	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12406209	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12407957	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12408222	0.95[EUR][1000 genomes]
rs12408912	0.94[EUR][1000 genomes]
rs12409263	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410237	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410549	0.88[EUR][1000 genomes]
rs1319120	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1569879	0.88[EUR][1000 genomes]
rs16825452	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16825469	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17520924	0.87[EUR][1000 genomes]
rs1882926	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1929095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1997977	0.95[EUR][1000 genomes]
rs2038225	0.88[EUR][1000 genomes]
rs2207728	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2383385	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2383386	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2383504	0.96[EUR][1000 genomes]
rs2383505	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2383511	0.88[EUR][1000 genomes]
rs2891247	0.93[EUR][1000 genomes]
rs34869216	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34898353	0.85[EUR][1000 genomes]
rs34975495	0.89[EUR][1000 genomes]
rs35066734	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35999012	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3851884	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3851886	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3863719	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3934200	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55812689	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57390268	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57468285	0.95[EUR][1000 genomes]
rs58982724	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59516785	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59665821	0.93[EUR][1000 genomes]
rs60682317	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60982539	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61101909	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6425031	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6425032	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6425033	0.95[EUR][1000 genomes]
rs6669319	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6671561	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6672638	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677885	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6677914	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679923	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66850891	0.89[EUR][1000 genomes]
rs6687784	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6690318	0.95[EUR][1000 genomes]
rs6692629	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6698923	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67143595	0.93[EUR][1000 genomes]
rs67203540	0.95[EUR][1000 genomes]
rs67362011	0.95[EUR][1000 genomes]
rs67396678	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67488110	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67588474	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67607835	0.89[EUR][1000 genomes]
rs67744944	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67777998	0.95[EUR][1000 genomes]
rs68164021	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72719487	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719500	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72719501	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72721517	0.93[EUR][1000 genomes]
rs72721521	0.89[EUR][1000 genomes]
rs72721544	0.87[EUR][1000 genomes]
rs73048464	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73048477	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73052465	0.95[EUR][1000 genomes]
rs7512750	0.91[EUR][1000 genomes]
rs7521968	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7522862	0.88[EUR][1000 genomes]
rs7523747	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7525586	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7526069	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7534971	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7538407	0.95[EUR][1000 genomes]
rs7542810	0.93[EUR][1000 genomes]
rs7544457	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7545438	0.93[EUR][1000 genomes]
rs7548600	0.88[EUR][1000 genomes]
rs7550585	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7550953	0.94[EUR][1000 genomes]
rs7555973	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs765799	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9659276	0.91[EUR][1000 genomes]
rs9804178	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers 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	34 gene(s)	inside rSNPs	diseases
6	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186388600-186411600	Weak transcription	A549	lung
2	chr1:186388600-186417400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr1:186389000-186413000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:186389600-186411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:186389600-186415600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr1:186389800-186411400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:186390800-186411600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:186394000-186414400	Weak transcription	HSMM	muscle
9	chr1:186394600-186414600	Weak transcription	Primary T cells from cord blood	blood
10	chr1:186395600-186413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr1:186398800-186411600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:186404200-186431400	Weak transcription	GM12878-XiMat	blood
13	chr1:186406000-186414600	Weak transcription	Right Ventricle	heart
14	chr1:186406400-186411600	Weak transcription	Liver	Liver
15	chr1:186406400-186411800	Weak transcription	Brain Anterior Caudate	brain
16	chr1:186406600-186421000	Weak transcription	Left Ventricle	heart
17	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain
18	chr1:186408200-186411400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:186409000-186413400	Enhancers	Hela-S3	cervix
20	chr1:186409200-186411600	Enhancers	HUVEC	blood vessel
21	chr1:186409800-186413400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr1:186410000-186411600	Weak transcription	NH-A	brain
23	chr1:186410000-186411800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:186410000-186411800	Weak transcription	HMEC	breast
25	chr1:186410000-186413400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:186410200-186411400	Weak transcription	NHEK	skin
27	chr1:186410200-186411600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:186410400-186411600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:186410600-186412800	Enhancers	Primary neutrophils fromperipheralblood	blood
30	chr1:186411000-186412400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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