Variant report

Variant	rs11580216
Chromosome Location	chr1:160676025-160676026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:160675860..160678038-chr1:160680233..160682705,2	K562	blood:

Variant related genes	Relation type
ENSG00000117091	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11265464	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11265465	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11265466	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11265467	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11265468	0.82[AMR][1000 genomes]
rs11265469	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11584616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11589131	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12117768	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12124234	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12143827	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12569009	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12730796	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs34154650	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34219158	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35206837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs352679	0.81[EUR][1000 genomes]
rs35474473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3766369	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59265097	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6702441	0.88[AMR][1000 genomes]
rs9793380	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9793381	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9793987	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[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	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
4	nsv428532	chr1:160671125-160767708	Flanking Active TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160670400-160676600	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr1:160673000-160676400	Genic enhancers	Dnd41	blood
3	chr1:160673000-160681200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:160673400-160681000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:160673600-160676400	Genic enhancers	Fetal Thymus	thymus
6	chr1:160674200-160681000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr1:160674400-160676600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr1:160674600-160676400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr1:160674800-160676200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr1:160675000-160676600	Enhancers	Thymus	Thymus
11	chr1:160675200-160676200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:160675200-160680800	Weak transcription	Spleen	Spleen
13	chr1:160675400-160676400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
14	chr1:160675600-160676200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:160675600-160677600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:160675600-160678000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr1:160675800-160676200	Enhancers	Primary B cells from cord blood	blood
18	chr1:160675800-160676200	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:160675800-160676200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:160675800-160676200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:160675800-160676400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr1:160675800-160676600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr1:160675800-160676800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:160675800-160676800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr1:160675800-160676800	Active TSS	GM12878-XiMat	blood
26	chr1:160675800-160677000	Weak transcription	Adipose Nuclei	Adipose
27	chr1:160675800-160677000	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr1:160675800-160677400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:160676000-160676200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr1:160676000-160676200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr1:160676000-160676200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:160676000-160676400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:160676000-160678800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr1:160676000-160679800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:160676000-160680400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
36	chr1:160676000-160680600	Flanking Active TSS	Primary T cells from cord blood	blood

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