Variant report

Variant	rs72647922
Chromosome Location	chr8:48858923-48858924
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48849661..48851317-chr8:48858106..48860426,2	K562	blood:
2	chr8:48854634..48856669-chr8:48858159..48861110,3	MCF-7	breast:
3	chr8:48858446..48860800-chr8:48864491..48866014,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10091017	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10097783	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10106778	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10481294	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10958438	0.85[EUR][1000 genomes]
rs11986191	0.85[EUR][1000 genomes]
rs11991957	0.80[AMR][1000 genomes]
rs12156246	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12334811	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13251871	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1551655	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17334535	0.87[EUR][1000 genomes]
rs1894311	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1903082	0.83[EUR][1000 genomes]
rs28578331	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28641816	0.85[EUR][1000 genomes]
rs28702696	0.83[EUR][1000 genomes]
rs3829985	0.95[ASN][1000 genomes]
rs4618724	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4873266	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4873728	0.83[AMR][1000 genomes]
rs4873770	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4873771	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4873773	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6993292	0.85[EUR][1000 genomes]
rs72633911	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72647908	0.82[EUR][1000 genomes]
rs72647909	0.82[EUR][1000 genomes]
rs72647913	0.84[EUR][1000 genomes]
rs72647914	0.90[EUR][1000 genomes]
rs72647916	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72647918	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7824066	0.90[EUR][1000 genomes]
rs8178016	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8178079	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs8178095	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8178097	0.82[EUR][1000 genomes]
rs9657054	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1021389	chr8:48700970-48880931	Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv539599	chr8:48700970-48880931	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
2	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
6	chr8:48793800-48870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:48793800-48870800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:48820000-48871000	Strong transcription	Fetal Intestine Large	intestine
9	chr8:48820400-48870000	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr8:48820400-48870000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:48822400-48870800	Strong transcription	Liver	Liver
12	chr8:48822600-48860000	Strong transcription	Hela-S3	cervix
13	chr8:48822600-48870600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr8:48822600-48870800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:48823200-48870600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:48824200-48870200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr8:48824800-48870000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:48831400-48859000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr8:48833800-48870800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:48833800-48870800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:48834000-48869200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:48834000-48869400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr8:48834000-48869400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr8:48834400-48870200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr8:48835400-48870200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr8:48835800-48871600	Strong transcription	Primary B cells from cord blood	blood
27	chr8:48837400-48860400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr8:48838800-48871000	Strong transcription	Primary T cells from cord blood	blood
29	chr8:48839000-48860200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr8:48839000-48869400	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:48839200-48859200	Strong transcription	Fetal Muscle Leg	muscle
32	chr8:48839200-48871400	Weak transcription	Right Atrium	heart
33	chr8:48839600-48860200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:48839600-48869600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:48839600-48870600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr8:48839600-48871000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:48839800-48871200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr8:48841400-48869000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr8:48841600-48860200	Strong transcription	HSMMtube	muscle
40	chr8:48845400-48860000	Strong transcription	K562	blood
41	chr8:48845400-48869200	Strong transcription	Adipose Nuclei	Adipose
42	chr8:48846000-48862200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:48846200-48869400	Strong transcription	Lung	lung
44	chr8:48846200-48869400	Strong transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:48846400-48871400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr8:48846600-48860000	Strong transcription	Left Ventricle	heart
47	chr8:48848200-48869400	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr8:48849200-48861400	Weak transcription	Fetal Heart	heart
49	chr8:48850000-48860000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr8:48850000-48867800	Strong transcription	Brain Germinal Matrix	brain

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