Variant report

Variant	rs1358749
Chromosome Location	chr1:67637270-67637271
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67637215..67639065-chr1:67640706..67643569,2	K562	blood:
2	chr1:67635692..67638633-chr1:67640217..67642877,2	K562	blood:
3	chr1:67631404..67633226-chr1:67635317..67637681,2	K562	blood:

Variant related genes	Relation type
ENSG00000162594	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10889665	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889667	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889668	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11801083	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1358748	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884443	0.95[EUR][1000 genomes]
rs2064691	0.94[EUR][1000 genomes]
rs2180296	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2863203	0.99[EUR][1000 genomes]
rs4655521	0.91[EUR][1000 genomes]
rs4655522	0.90[EUR][1000 genomes]
rs4655681	0.96[EUR][1000 genomes]
rs4655688	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655689	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4655690	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666144	0.94[EUR][1000 genomes]
rs6683455	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6684024	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687620	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703475	0.94[EUR][1000 genomes]
rs7518757	0.89[EUR][1000 genomes]
rs7540900	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461751	chr1:67479598-67689036	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv546445	chr1:67479598-67689036	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv461762	chr1:67551209-67648460	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546446	chr1:67551209-67648460	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67631400-67637800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:67633400-67637400	Weak transcription	Left Ventricle	heart
3	chr1:67635200-67637800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:67635200-67639200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:67635600-67637600	Enhancers	Dnd41	blood
6	chr1:67635800-67638600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr1:67636000-67637600	Enhancers	Primary hematopoietic stem cells	blood
8	chr1:67636000-67637600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:67636000-67637600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:67636000-67637800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr1:67636200-67637800	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:67636200-67637800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:67636200-67638000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:67636200-67638400	Enhancers	GM12878-XiMat	blood
15	chr1:67636200-67638800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:67636400-67637800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr1:67636400-67637800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr1:67636400-67637800	Enhancers	Fetal Thymus	thymus
19	chr1:67636400-67637800	Enhancers	Small Intestine	intestine
20	chr1:67636600-67637800	Enhancers	Liver	Liver
21	chr1:67636600-67637800	Enhancers	Fetal Intestine Small	intestine
22	chr1:67636600-67637800	Enhancers	K562	blood
23	chr1:67636600-67639400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:67637000-67637400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:67637000-67637400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:67637000-67638400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:67637000-67638800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:67637200-67637400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr1:67637200-67637800	Enhancers	HepG2	liver
30	chr1:67637200-67638200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:67637200-67639400	Enhancers	Primary T helper cells fromperipheralblood	blood

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