Variant report

Variant	rs4609230
Chromosome Location	chr8:61823389-61823390
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10504321	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12680914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12680923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12682244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16926582	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4123861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55792263	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55832112	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57065489	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58187777	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58610284	0.90[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs59503990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61356857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61525594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72652548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72652550	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819622	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv429919	chr8:61771472-61979873	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv890947	chr8:61815886-61882751	Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv948922	chr8:61818964-62475097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	esv3327831	chr8:61821423-61824171	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61820800-61825400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr8:61821000-61823400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr8:61821000-61823400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr8:61821000-61826400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr8:61821200-61823400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:61821200-61823400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
7	chr8:61821200-61823800	Active TSS	Rectal Smooth Muscle	rectum
8	chr8:61821400-61823400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr8:61821400-61823400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr8:61821400-61823400	Active TSS	Fetal Brain Female	brain
11	chr8:61821400-61823400	Flanking Active TSS	HUVEC	blood vessel
12	chr8:61821400-61826400	Enhancers	Placenta	Placenta
13	chr8:61821600-61823400	Flanking Active TSS	HSMM	muscle
14	chr8:61821800-61823400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:61822200-61823400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
16	chr8:61822200-61823400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:61822400-61823400	Flanking Active TSS	GM12878-XiMat	blood
18	chr8:61822400-61823800	Weak transcription	HepG2	liver
19	chr8:61822400-61824400	Weak transcription	Dnd41	blood
20	chr8:61822600-61823400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr8:61822600-61823400	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr8:61822600-61823800	Enhancers	HSMMtube	muscle
23	chr8:61822600-61824400	Enhancers	Liver	Liver
24	chr8:61822600-61824600	Enhancers	Stomach Mucosa	stomach
25	chr8:61822600-61825400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr8:61822600-61826600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:61822800-61823400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:61822800-61823400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:61822800-61823400	Flanking Active TSS	Primary B cells from peripheral blood	blood
30	chr8:61822800-61823400	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr8:61822800-61823400	Enhancers	Fetal Heart	heart
32	chr8:61822800-61823400	Flanking Active TSS	Fetal Lung	lung
33	chr8:61822800-61823400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr8:61822800-61823400	Flanking Bivalent TSS/Enh	NHEK	skin
35	chr8:61822800-61823800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr8:61822800-61824400	Enhancers	Colon Smooth Muscle	Colon
37	chr8:61822800-61825400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr8:61822800-61826000	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr8:61823000-61823400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
40	chr8:61823000-61823400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:61823000-61823400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
42	chr8:61823000-61823400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
43	chr8:61823000-61823400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
44	chr8:61823000-61823400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr8:61823000-61823400	Flanking Active TSS	Brain Substantia Nigra	brain
46	chr8:61823000-61823400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr8:61823000-61823400	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr8:61823000-61823800	Enhancers	Primary hematopoietic stem cells	blood
49	chr8:61823000-61823800	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr8:61823000-61823800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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