Variant report

Variant	rs6992940
Chromosome Location	chr8:108344678-108344679
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:108310092..108312826-chr8:108342773..108344986,2	K562	blood:
2	chr8:108320769..108323724-chr8:108344479..108346213,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10505105	0.81[ASN][1000 genomes]
rs1433195	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1433196	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17295555	0.81[ASN][1000 genomes]
rs17296358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296456	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17296616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17368764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41420946	0.81[ASN][1000 genomes]
rs56134158	0.81[ASN][1000 genomes]
rs7004172	0.85[ASN][1000 genomes]
rs7011520	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72672522	0.81[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:46 , 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	chr8:108340600-108345000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:108343000-108345000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:108343600-108345600	Enhancers	NHDF-Ad	bronchial
7	chr8:108343800-108345000	Enhancers	Primary hematopoietic stem cells	blood
8	chr8:108343800-108345000	Enhancers	HUVEC	blood vessel
9	chr8:108343800-108345400	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:108343800-108345600	Enhancers	Stomach Smooth Muscle	stomach
11	chr8:108343800-108346400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:108344000-108344800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr8:108344000-108345000	Enhancers	Placenta	Placenta
14	chr8:108344000-108345000	Enhancers	Left Ventricle	heart
15	chr8:108344000-108345000	Enhancers	Psoas Muscle	Psoas
16	chr8:108344000-108345200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:108344000-108345200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr8:108344000-108345200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:108344000-108345200	Enhancers	Aorta	Aorta
20	chr8:108344000-108345200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:108344000-108345400	Enhancers	Osteobl	bone
22	chr8:108344200-108344800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:108344200-108344800	Enhancers	Colon Smooth Muscle	Colon
24	chr8:108344200-108344800	Enhancers	Duodenum Mucosa	Duodenum
25	chr8:108344200-108345200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:108344200-108345200	Enhancers	HSMMtube	muscle
27	chr8:108344200-108345800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:108344200-108346000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:108344200-108347800	Transcr. at gene 5' and 3'	K562	blood
30	chr8:108344400-108345000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:108344400-108345000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:108344400-108345000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr8:108344400-108345200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:108344400-108345200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:108344400-108345200	Enhancers	Fetal Stomach	stomach
36	chr8:108344400-108345600	Enhancers	Adipose Nuclei	Adipose
37	chr8:108344400-108345600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr8:108344600-108344800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:108344600-108344800	Enhancers	Fetal Heart	heart
40	chr8:108344600-108345000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:108344600-108345000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:108344600-108345000	Enhancers	Ovary	ovary
43	chr8:108344600-108345200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr8:108344600-108345200	Enhancers	NHLF	lung
45	chr8:108344600-108345800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:108344600-108345800	Enhancers	Fetal Lung	lung

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