Variant report

Variant	rs499980
Chromosome Location	chr1:160669683-160669684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1090799	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12117784	0.85[ASN][1000 genomes]
rs481433	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs507260	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs511680	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs530133	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs535664	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs540217	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs569567	0.86[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs59156523	0.84[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7521591	0.86[AFR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831714	chr1:160581168-160776809	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv437213	chr1:160652730-160681836	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160654200-160671000	Weak transcription	Small Intestine	intestine
2	chr1:160655200-160673600	Weak transcription	Spleen	Spleen
3	chr1:160656200-160672000	Weak transcription	Dnd41	blood
4	chr1:160660400-160670400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:160660400-160671200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:160660400-160671200	Weak transcription	Thymus	Thymus
7	chr1:160660400-160671600	Weak transcription	Primary B cells from cord blood	blood
8	chr1:160662000-160671000	Weak transcription	GM12878-XiMat	blood
9	chr1:160662000-160671200	Weak transcription	Fetal Thymus	thymus
10	chr1:160662200-160672000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:160662400-160670000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:160662400-160672000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:160662600-160670000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:160664600-160669800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr1:160666000-160673800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:160667200-160670400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr1:160667400-160672800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr1:160668200-160669800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr1:160668200-160671400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:160668600-160673000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:160669000-160670400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr1:160669200-160671000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:160669200-160671200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
24	chr1:160669200-160672200	Enhancers	Duodenum Mucosa	Duodenum
25	chr1:160669200-160673400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:160669200-160674400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:160669200-160674800	Genic enhancers	Primary T cells from cord blood	blood
28	chr1:160669200-160675800	Genic enhancers	Primary T cells fromperipheralblood	blood
29	chr1:160669400-160671400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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