Variant report

Variant	rs11989718
Chromosome Location	chr8:108321693-108321694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:108320818..108322841-chr8:108505986..108508104,2	K562	blood:
2	chr8:108320003..108323467-chr8:108344820..108346729,3	K562	blood:
3	chr8:108321424..108323039-chr8:108346971..108349140,2	K562	blood:
4	chr8:108304086..108305949-chr8:108321318..108324299,2	K562	blood:
5	chr8:108320769..108323724-chr8:108344479..108346213,2	K562	blood:
6	chr8:108311610..108313878-chr8:108319645..108322310,2	MCF-7	breast:
7	chr8:108302915..108304989-chr8:108320621..108322739,2	K562	blood:
8	chr8:108320101..108322841-chr8:108505986..108508292,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs58952547	1.00[AMR][1000 genomes]
rs59741166	1.00[AMR][1000 genomes]
rs60638200	1.00[AMR][1000 genomes]
rs73702005	1.00[AMR][1000 genomes]
rs73702036	1.00[AMR][1000 genomes]
rs73702050	1.00[AMR][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	nsv916496	chr8:107813722-108338822	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	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
13	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
14	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

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108276600-108327600	Weak transcription	Aorta	Aorta
2	chr8:108296600-108323200	Weak transcription	Fetal Kidney	kidney
3	chr8:108304600-108326400	Weak transcription	Ovary	ovary
4	chr8:108307600-108325000	Weak transcription	Adipose Nuclei	Adipose
5	chr8:108314600-108326200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:108315200-108326200	Weak transcription	Fetal Lung	lung
7	chr8:108315400-108322600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:108316400-108322000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:108317800-108322000	Genic enhancers	K562	blood
10	chr8:108317800-108322400	Weak transcription	Osteobl	bone
11	chr8:108317800-108323400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr8:108319400-108323200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr8:108319800-108323600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:108320400-108322400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:108321000-108322000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:108321200-108322800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:108321400-108322600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr8:108321400-108322600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:108321400-108324800	Weak transcription	Fetal Thymus	thymus
20	chr8:108321600-108322600	Weak transcription	Dnd41	blood

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