Variant report

Variant	rs2514887
Chromosome Location	chr8:108345388-108345389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108320003..108323467-chr8:108344820..108346729,3	K562	blood:
2	chr8:108320769..108323724-chr8:108344479..108346213,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10107690	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10808413	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1283653	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1283655	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1283657	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1902323	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2445359	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3019115	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3808595	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4077322	0.86[ASN][1000 genomes]
rs4133396	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4389897	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4425727	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4463391	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4734963	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469108	0.86[ASN][1000 genomes]
rs6982658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7004005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7836094	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029202	chr8:107796289-108384241	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv539712	chr8:107796289-108384241	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1034210	chr8:107796489-108384102	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv539713	chr8:107796489-108384102	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv529383	chr8:107796490-108368465	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv915821	chr8:107796490-108393008	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1028726	chr8:107816841-108392547	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv497805	chr8:107852509-108368371	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1027447	chr8:108335387-108365566	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108323000-108349000	Weak transcription	HSMM	muscle
2	chr8:108333600-108368800	Weak transcription	Fetal Kidney	kidney
3	chr8:108337800-108360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:108343600-108345600	Enhancers	NHDF-Ad	bronchial
5	chr8:108343800-108345400	Enhancers	Rectal Smooth Muscle	rectum
6	chr8:108343800-108345600	Enhancers	Stomach Smooth Muscle	stomach
7	chr8:108343800-108346400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr8:108344000-108345400	Enhancers	Osteobl	bone
9	chr8:108344200-108345800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:108344200-108346000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:108344200-108347800	Transcr. at gene 5' and 3'	K562	blood
12	chr8:108344400-108345600	Enhancers	Adipose Nuclei	Adipose
13	chr8:108344400-108345600	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr8:108344600-108345800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:108344600-108345800	Enhancers	Fetal Lung	lung
16	chr8:108344800-108347200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:108345000-108345400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:108345000-108345400	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:108345000-108345600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:108345000-108346000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr8:108345000-108346000	Enhancers	Fetal Heart	heart
22	chr8:108345000-108346800	Weak transcription	Ovary	ovary
23	chr8:108345000-108347400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:108345000-108348200	Weak transcription	Placenta	Placenta
25	chr8:108345200-108347000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:108345200-108347000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:108345200-108351800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:108345200-108356600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:108345200-108393200	Weak transcription	Aorta	Aorta

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