Variant report

Variant	rs1030693
Chromosome Location	chr8:108368642-108368643
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	chr8:108364652..108367113-chr8:108367728..108369614,2	K562	blood:
2	chr8:108368066..108369728-chr8:108370980..108373315,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10093967	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10095329	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1433175	0.84[ASN][1000 genomes]
rs2436557	0.84[ASN][1000 genomes]
rs2436558	0.84[ASN][1000 genomes]
rs2514862	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	esv1832253	chr8:108355808-108371820	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108333600-108368800	Weak transcription	Fetal Kidney	kidney
2	chr8:108345200-108393200	Weak transcription	Aorta	Aorta
3	chr8:108352400-108379000	Weak transcription	Psoas Muscle	Psoas
4	chr8:108357200-108375000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:108358600-108375200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:108359000-108374400	Weak transcription	Adipose Nuclei	Adipose
7	chr8:108360400-108374400	Weak transcription	Fetal Heart	heart
8	chr8:108362600-108369800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:108365800-108370000	Enhancers	Osteobl	bone
10	chr8:108365800-108372600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:108366000-108370600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:108367200-108369800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:108367200-108369800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:108368000-108368800	Enhancers	NHDF-Ad	bronchial
15	chr8:108368000-108368800	Enhancers	NHLF	lung
16	chr8:108368000-108369000	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:108368000-108369200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:108368000-108372400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr8:108368400-108369000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:108368400-108372800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:108368600-108370000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:108368600-108371000	Enhancers	Fetal Lung	lung

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