Variant report

Variant	rs34213675
Chromosome Location	chr8:92043378-92043379
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:91995925..91998055-chr8:92041989..92044300,2	K562	blood:
2	chr8:92041183..92047708-chr8:92048754..92054667,8	MCF-7	breast:
3	chr8:92041136..92044367-chr8:92045301..92047451,3	K562	blood:

Variant related genes	Relation type
ENSG00000155099	Chromatin interaction
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10106732	0.95[ASN][1000 genomes]
rs11780153	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12545269	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28404401	0.80[AFR][1000 genomes]
rs28618232	0.82[AFR][1000 genomes]
rs34250051	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35972814	0.82[AFR][1000 genomes]
rs4549728	0.95[ASN][1000 genomes]
rs4582514	0.95[ASN][1000 genomes]
rs60835352	0.95[ASN][1000 genomes]
rs7016498	0.81[ASN][1000 genomes]
rs7016665	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7016813	0.95[ASN][1000 genomes]
rs7016960	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7017271	0.95[ASN][1000 genomes]
rs7829199	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846412	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv831390	chr8:92037011-92198605	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92015800-92052200	Weak transcription	Pancreas	Pancrea
2	chr8:92023600-92045600	Weak transcription	Right Ventricle	heart
3	chr8:92028200-92049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:92029400-92049400	Weak transcription	Fetal Brain Male	brain
5	chr8:92029600-92051000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr8:92030800-92049400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:92030800-92052400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:92030800-92052400	Weak transcription	Lung	lung
9	chr8:92031000-92050800	Weak transcription	Fetal Brain Female	brain
10	chr8:92031200-92047200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:92031400-92045600	Weak transcription	Ovary	ovary
12	chr8:92031400-92046400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr8:92032000-92046600	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:92032200-92044600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr8:92032200-92045600	Weak transcription	Brain Angular Gyrus	brain
16	chr8:92032200-92045600	Weak transcription	Left Ventricle	heart
17	chr8:92032200-92051800	Weak transcription	Thymus	Thymus
18	chr8:92032200-92052200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr8:92032200-92052200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:92032200-92052200	Weak transcription	Fetal Stomach	stomach
21	chr8:92032400-92050800	Weak transcription	Fetal Lung	lung
22	chr8:92032400-92051800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr8:92032600-92049000	Weak transcription	Dnd41	blood
24	chr8:92032800-92045800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:92033200-92048600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr8:92033400-92043600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr8:92033400-92046600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:92034200-92051000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr8:92034800-92044200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:92037600-92044200	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr8:92037600-92046600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:92037600-92051400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr8:92038400-92045400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:92038600-92045000	Weak transcription	Adipose Nuclei	Adipose
35	chr8:92038600-92045600	Weak transcription	Aorta	Aorta
36	chr8:92038800-92045600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:92038800-92045600	Weak transcription	Brain Substantia Nigra	brain
38	chr8:92039600-92044200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr8:92039600-92045800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr8:92039800-92045000	Weak transcription	Brain Hippocampus Middle	brain
41	chr8:92039800-92048600	Weak transcription	HSMMtube	muscle
42	chr8:92040200-92045400	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr8:92040200-92045400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:92040200-92046600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:92040200-92049400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr8:92040200-92051400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr8:92040200-92052200	Weak transcription	HSMM	muscle
48	chr8:92040400-92044200	Weak transcription	Psoas Muscle	Psoas
49	chr8:92040400-92045400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:92040400-92045600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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