Variant report

Variant	rs4634599
Chromosome Location	chr8:92016465-92016466
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	chr8:92006828..92011591-chr8:92013462..92016540,5	K562	blood:
2	chr8:92007098..92008778-chr8:92015883..92017756,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1003996	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10108486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112439	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1011254	0.87[AMR][1000 genomes]
rs12675931	0.82[AMR][1000 genomes]
rs13265644	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13276591	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1386111	0.90[ASN][1000 genomes]
rs1386112	0.87[AMR][1000 genomes]
rs1542666	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2054805	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2129261	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2255173	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2339289	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2339291	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2631012	0.86[AMR][1000 genomes]
rs2631014	0.87[AMR][1000 genomes]
rs2631017	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2631024	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2631033	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2677573	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2677580	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2740776	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2740782	0.90[ASN][1000 genomes]
rs2740795	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2740799	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4448231	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7018395	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7818155	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7825360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828122	0.83[AMR][1000 genomes];0.96[EUR][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	esv1851089	chr8:92006663-92038304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91997800-92026400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:91998000-92019800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:91998200-92018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:91998200-92019800	Weak transcription	Left Ventricle	heart
5	chr8:91998200-92026400	Weak transcription	HMEC	breast
6	chr8:91998200-92026800	Weak transcription	Ovary	ovary
7	chr8:91998200-92027000	Weak transcription	Brain Germinal Matrix	brain
8	chr8:91998200-92028800	Weak transcription	HSMMtube	muscle
9	chr8:91998200-92030200	Weak transcription	Aorta	Aorta
10	chr8:91998200-92030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:91998400-92020800	Weak transcription	HUVEC	blood vessel
12	chr8:91998400-92025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:91998400-92025800	Weak transcription	NHLF	lung
14	chr8:91998400-92026400	Weak transcription	NH-A	brain
15	chr8:91998400-92026600	Weak transcription	Psoas Muscle	Psoas
16	chr8:91998400-92028800	Weak transcription	Fetal Brain Male	brain
17	chr8:91998400-92030200	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:91998600-92026400	Weak transcription	Thymus	Thymus
19	chr8:91998600-92027200	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:91998600-92030000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:91998600-92030200	Weak transcription	Fetal Stomach	stomach
22	chr8:91998600-92030200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:91998600-92030400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:92000200-92026600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:92000400-92025800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:92000400-92026800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:92000400-92029000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:92001000-92027400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr8:92001400-92027400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:92001800-92026400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr8:92003800-92027200	Weak transcription	Fetal Kidney	kidney
32	chr8:92003800-92040200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr8:92004400-92027200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr8:92004600-92019600	Weak transcription	NHEK	skin
35	chr8:92005200-92019800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr8:92005600-92017400	Weak transcription	Liver	Liver
37	chr8:92005600-92027400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:92008000-92028800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:92008600-92019200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:92008600-92025200	Weak transcription	Placenta	Placenta
41	chr8:92008600-92028600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:92008800-92018600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr8:92008800-92018800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:92008800-92019600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:92008800-92026200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:92009000-92016600	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr8:92009000-92018000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr8:92009000-92020000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr8:92009000-92027000	Weak transcription	Osteobl	bone
50	chr8:92009000-92030200	Weak transcription	Brain Angular Gyrus	brain

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