Variant report

Variant	rs1040423
Chromosome Location	chr1:210100459-210100460
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210099710..210101405-chr1:210104542..210107645,3	K562	blood:
2	chr1:210000011..210002794-chr1:210097797..210100513,2	K562	blood:

Variant related genes	Relation type
ENSG00000117597	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:156)

rs_ID	r²[population]
rs1028325	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10779516	0.89[EUR][1000 genomes]
rs10779517	0.88[EUR][1000 genomes]
rs10779518	0.88[EUR][1000 genomes]
rs10863799	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1099863	0.86[EUR][1000 genomes]
rs11119363	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11119369	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119370	0.95[EUR][1000 genomes]
rs11119374	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11119375	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11119376	0.87[EUR][1000 genomes]
rs11119378	0.83[ASN][1000 genomes]
rs11119382	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11119409	0.84[EUR][1000 genomes]
rs11119413	0.82[EUR][1000 genomes]
rs11119414	0.82[EUR][1000 genomes]
rs12025114	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042135	0.84[EUR][1000 genomes]
rs12078439	0.88[EUR][1000 genomes]
rs12079815	0.92[EUR][1000 genomes]
rs12083466	0.96[EUR][1000 genomes]
rs12092530	0.97[EUR][1000 genomes]
rs126277	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs126278	0.86[EUR][1000 genomes]
rs1334567	0.81[EUR][1000 genomes]
rs1334568	0.81[EUR][1000 genomes]
rs1334569	0.86[EUR][1000 genomes]
rs1387933	0.85[EUR][1000 genomes]
rs1387934	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs170552	0.87[EUR][1000 genomes]
rs170553	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs170555	0.87[EUR][1000 genomes]
rs170557	0.86[EUR][1000 genomes]
rs170558	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs183450	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs189000	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs189001	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2046849	0.83[EUR][1000 genomes]
rs2142861	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2200970	0.82[EUR][1000 genomes]
rs2205987	0.86[EUR][1000 genomes]
rs2205988	0.89[EUR][1000 genomes]
rs2205989	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs227168	0.86[EUR][1000 genomes]
rs227169	0.85[EUR][1000 genomes]
rs227170	0.86[EUR][1000 genomes]
rs227171	0.86[EUR][1000 genomes]
rs227172	0.86[EUR][1000 genomes]
rs227173	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs227174	0.86[EUR][1000 genomes]
rs227175	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs227176	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs227177	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs227178	0.86[EUR][1000 genomes]
rs227179	0.85[EUR][1000 genomes]
rs227181	0.86[EUR][1000 genomes]
rs227182	0.86[EUR][1000 genomes]
rs227183	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227184	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227186	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227187	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227188	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227190	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs227191	0.86[EUR][1000 genomes]
rs227193	0.86[EUR][1000 genomes]
rs227195	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs227196	0.86[EUR][1000 genomes]
rs227197	0.86[EUR][1000 genomes]
rs227200	0.87[EUR][1000 genomes]
rs227201	0.85[EUR][1000 genomes]
rs227202	0.87[EUR][1000 genomes]
rs227203	0.85[EUR][1000 genomes]
rs227204	0.86[EUR][1000 genomes]
rs227205	0.86[EUR][1000 genomes]
rs227206	0.86[EUR][1000 genomes]
rs227207	0.88[EUR][1000 genomes]
rs227209	0.85[EUR][1000 genomes]
rs227211	0.85[EUR][1000 genomes]
rs227216	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227217	0.84[EUR][1000 genomes]
rs227218	0.85[EUR][1000 genomes]
rs227219	0.85[EUR][1000 genomes]
rs227221	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227223	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs227224	0.86[EUR][1000 genomes]
rs227225	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs227226	0.84[EUR][1000 genomes]
rs227227	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227228	0.86[EUR][1000 genomes]
rs227229	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs227230	0.86[EUR][1000 genomes]
rs227232	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2357212	0.95[EUR][1000 genomes]
rs2473073	0.82[EUR][1000 genomes]
rs2636373	0.88[EUR][1000 genomes]
rs2636376	0.86[EUR][1000 genomes]
rs2743889	0.86[EUR][1000 genomes]
rs2743891	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2884124	0.89[EUR][1000 genomes]
rs4282820	0.88[EUR][1000 genomes]
rs4454550	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462143	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4844913	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4844947	0.81[EUR][1000 genomes]
rs4844948	0.81[EUR][1000 genomes]
rs6540567	0.88[EUR][1000 genomes]
rs6540568	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6540569	0.95[EUR][1000 genomes]
rs6540570	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6540573	0.88[EUR][1000 genomes]
rs6540580	0.81[EUR][1000 genomes]
rs6656855	0.81[EUR][1000 genomes]
rs6662445	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6667057	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6678081	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6682334	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6682546	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6689456	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6702257	0.85[EUR][1000 genomes]
rs6702961	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs701947	0.86[EUR][1000 genomes]
rs701948	0.86[EUR][1000 genomes]
rs724054	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7513171	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7514257	0.86[EUR][1000 genomes]
rs7519750	0.81[EUR][1000 genomes]
rs7525980	0.86[EUR][1000 genomes]
rs7528647	0.94[EUR][1000 genomes]
rs7530426	0.88[EUR][1000 genomes]
rs7544033	0.94[EUR][1000 genomes]
rs7547709	0.86[EUR][1000 genomes]
rs7548989	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7549523	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7549696	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs846545	0.87[EUR][1000 genomes]
rs846548	0.87[EUR][1000 genomes]
rs846549	0.87[EUR][1000 genomes]
rs846550	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs846551	0.86[EUR][1000 genomes]
rs846552	0.86[EUR][1000 genomes]
rs846553	0.88[EUR][1000 genomes]
rs846554	0.86[EUR][1000 genomes]
rs846555	0.86[EUR][1000 genomes]
rs846556	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs846557	0.88[EUR][1000 genomes]
rs846559	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9429827	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9429829	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9429830	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9430020	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9430024	0.95[EUR][1000 genomes]
rs9430026	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9659395	0.82[EUR][1000 genomes]
rs9662387	0.95[EUR][1000 genomes]
rs986057	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv4354	chr1:210070574-210100783	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1844866	chr1:210078078-210108473	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv1793329	chr1:210078517-210102950	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1825811	chr1:210082206-210135806	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr1:210098800-210101000	Enhancers	NH-A	brain
2	chr1:210099200-210100600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:210099200-210101000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:210099200-210101200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:210099400-210100800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:210099400-210101000	Enhancers	Brain Germinal Matrix	brain
7	chr1:210099400-210101200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:210099400-210101200	Enhancers	HSMMtube	muscle
9	chr1:210099600-210101200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr1:210099800-210101200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:210100200-210101200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:210100200-210107800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:210100400-210103000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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