Variant report

Variant	rs6993311
Chromosome Location	chr8:108299900-108299901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108292665..108297223-chr8:108297653..108301576,4	K562	blood:
2	chr8:108297619..108300531-chr8:108300720..108302749,2	K562	blood:
3	chr8:108295936..108300410-chr8:108304033..108310866,9	K562	blood:
4	chr8:108297727..108300004-chr8:108306380..108308421,2	K562	blood:

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs16875996	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16876024	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4636176	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5011240	0.85[EUR][1000 genomes]
rs55810924	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6982586	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6992337	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6999380	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7011605	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72672503	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	nsv891266	chr8:108234516-108307058	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108257800-108305400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:108275400-108305600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr8:108276600-108327600	Weak transcription	Aorta	Aorta
4	chr8:108278400-108310400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr8:108282800-108306200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:108282800-108321000	Weak transcription	Psoas Muscle	Psoas
7	chr8:108288800-108307000	Weak transcription	Osteobl	bone
8	chr8:108294200-108315800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr8:108295200-108307000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:108296000-108305400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:108296200-108300000	Strong transcription	Primary hematopoietic stem cells	blood
12	chr8:108296200-108308000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr8:108296600-108323200	Weak transcription	Fetal Kidney	kidney
14	chr8:108298800-108303600	Enhancers	Fetal Lung	lung
15	chr8:108299200-108300000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr8:108299200-108301000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:108299200-108302800	Enhancers	NHDF-Ad	bronchial
18	chr8:108299400-108300000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:108299400-108300000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:108299400-108300200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:108299400-108303000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:108299600-108300000	Enhancers	Adipose Nuclei	Adipose
23	chr8:108299600-108300000	Flanking Active TSS	K562	blood
24	chr8:108299800-108300000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr8:108299800-108301200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:108299800-108302400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:108299800-108310200	Weak transcription	NHLF	lung

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