Variant report

Variant	rs2647521
Chromosome Location	chr1:77895410-77895411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10518551	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10518553	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11162337	0.87[ASN][1000 genomes]
rs11162338	0.87[ASN][1000 genomes]
rs17100530	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17371324	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17379910	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17380099	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2256735	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2349965	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2647514	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2647515	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2647517	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2647518	0.91[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2647519	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2803143	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2803146	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2882289	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3104461	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3112829	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4342893	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4402168	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4638175	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59417372	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6703133	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7415865	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7417056	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005183	chr1:77728990-77949309	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv535010	chr1:77728990-77949309	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv932557	chr1:77730247-77958687	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1003714	chr1:77756861-77949309	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1848735	chr1:77885282-77918347	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv871605	chr1:77889505-77918347	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv3336292	chr1:77895245-77895624	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77872200-77913800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:77888000-77897000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:77893000-77895800	Strong transcription	Muscle Satellite Cultured Cells	--
4	chr1:77893800-77902600	Weak transcription	Osteobl	bone
5	chr1:77893800-77903600	Weak transcription	Brain Hippocampus Middle	brain
6	chr1:77894000-77897000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:77894000-77897600	Weak transcription	Brain Substantia Nigra	brain
8	chr1:77894200-77896400	Weak transcription	HSMM	muscle
9	chr1:77894200-77896400	Weak transcription	NHDF-Ad	bronchial
10	chr1:77894200-77896600	Weak transcription	HSMMtube	muscle
11	chr1:77894200-77896800	Weak transcription	Brain Anterior Caudate	brain
12	chr1:77894200-77905200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:77894200-77912400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:77894200-77912600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:77895000-77896400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr1:77895000-77896600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:77895200-77896000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:77895200-77896400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:77895200-77896600	Enhancers	Primary T cells from cord blood	blood
20	chr1:77895200-77896600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr1:77895200-77896600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:77895200-77898800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr1:77895200-77898800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr1:77895200-77899000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:77895200-77899400	Enhancers	Primary T killer memory cells from peripheral blood	blood
26	chr1:77895200-77901400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr1:77895400-77895600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr1:77895400-77896600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:77895400-77896800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr1:77895400-77897000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr1:77895400-77902000	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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