Variant report

Variant	rs16876021
Chromosome Location	chr8:108327769-108327770
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:108324753..108329300-chr8:108347441..108349729,6	K562	blood:
2	chr8:108327353..108329181-chr8:108342640..108344430,2	K562	blood:
3	chr8:108304841..108306771-chr8:108325164..108328030,2	K562	blood:
4	chr8:108325638..108328700-chr8:108330925..108333725,3	K562	blood:

Variant related genes	Relation type
ENSG00000154188	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10093967	0.96[CEU][hapmap];0.94[CHB][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10095329	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780324	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675569	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17295268	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4324901	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4371979	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62512817	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62512818	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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	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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108323000-108328000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr8:108323000-108349000	Weak transcription	HSMM	muscle
3	chr8:108323400-108327800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:108325200-108328200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:108325200-108329600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:108325200-108330600	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr8:108326000-108330400	Enhancers	Primary T cells from cord blood	blood
8	chr8:108326200-108328200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:108326200-108328200	Enhancers	Fetal Lung	lung
10	chr8:108326200-108328200	Enhancers	Osteobl	bone
11	chr8:108326200-108328400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:108326200-108328400	Enhancers	NHDF-Ad	bronchial
13	chr8:108326600-108328400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:108326800-108328600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:108327000-108327800	Enhancers	Fetal Kidney	kidney
16	chr8:108327000-108328000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:108327000-108328000	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr8:108327200-108328200	Flanking Active TSS	NHLF	lung
19	chr8:108327400-108327800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr8:108327400-108328000	Enhancers	Primary B cells from cord blood	blood
21	chr8:108327400-108328000	Weak transcription	Fetal Thymus	thymus
22	chr8:108327400-108328200	Flanking Active TSS	K562	blood
23	chr8:108327400-108330600	Enhancers	Dnd41	blood
24	chr8:108327400-108340800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:108327600-108328200	Enhancers	Aorta	Aorta
26	chr8:108327600-108328200	Enhancers	A549	lung

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