Variant report

Variant	rs4987280
Chromosome Location	chr1:169679553-169679554
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489172	1.00[ASN][1000 genomes]
rs1062976	1.00[ASN][1000 genomes]
rs10800468	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919250	1.00[ASN][1000 genomes]
rs10919255	1.00[ASN][1000 genomes]
rs1131498	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576078	1.00[ASN][1000 genomes]
rs12064636	1.00[ASN][1000 genomes]
rs12084893	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12089057	1.00[ASN][1000 genomes]
rs12760399	1.00[ASN][1000 genomes]
rs16862745	1.00[ASN][1000 genomes]
rs17525350	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17529513	1.00[ASN][1000 genomes]
rs17603022	1.00[ASN][1000 genomes]
rs6678351	1.00[ASN][1000 genomes]
rs6694855	1.00[ASN][1000 genomes]
rs73026213	1.00[ASN][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	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1009313	chr1:169661299-169680173	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv872541	chr1:169672360-169695815	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169676400-169680600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
2	chr1:169676600-169681400	Active TSS	Primary T killer memory cells from peripheral blood	blood
3	chr1:169677400-169680600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:169677400-169681000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:169677600-169680200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:169677600-169681000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:169677800-169680600	Active TSS	Primary T cells fromperipheralblood	blood
8	chr1:169677800-169680600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr1:169678000-169680000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:169678000-169681000	Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr1:169678000-169681000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr1:169678200-169681000	Active TSS	Primary T cells from cord blood	blood
13	chr1:169678400-169679600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:169678400-169681400	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr1:169678600-169679600	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:169678600-169679800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:169678800-169679800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr1:169678800-169680400	Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr1:169678800-169680400	Active TSS	Fetal Thymus	thymus
20	chr1:169678800-169680600	Active TSS	Thymus	Thymus
21	chr1:169679200-169679600	Active TSS	GM12878-XiMat	blood
22	chr1:169679200-169679800	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr1:169679200-169680600	Active TSS	Primary monocytes fromperipheralblood	blood
24	chr1:169679200-169680600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:169679200-169680600	Weak transcription	Small Intestine	intestine
26	chr1:169679400-169679600	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr1:169679400-169679800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:169679400-169680000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr1:169679400-169680600	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr1:169679400-169680800	Active TSS	Primary B cells from peripheral blood	blood
31	chr1:169679400-169680800	Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr1:169679400-169681600	Flanking Active TSS	Dnd41	blood

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