Variant report

Variant	rs10481294
Chromosome Location	chr8:48832568-48832569
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48823109..48825250-chr8:48831266..48832886,2	K562	blood:
2	chr8:48830231..48832723-chr8:48832823..48835481,2	MCF-7	breast:
3	chr8:48830577..48833973-chr8:48871114..48874120,3	MCF-7	breast:
4	chr8:48823109..48828322-chr8:48830609..48833340,5	K562	blood:

Variant related genes	Relation type
ENSG00000104738	Chromatin interaction
ENSG00000253729	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10091017	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10097783	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10106778	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10109158	0.81[ASN][1000 genomes]
rs10808897	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10958438	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11986191	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12156246	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12334811	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13251871	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1551655	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1894311	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1903082	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28485144	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28578331	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28641816	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28702696	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4618724	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4873266	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4873737	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4873770	0.90[EUR][1000 genomes]
rs4873771	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4873773	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6993292	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6993483	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7014544	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7016660	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72633911	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72647906	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs72647908	0.83[EUR][1000 genomes]
rs72647909	0.83[EUR][1000 genomes]
rs72647913	0.85[EUR][1000 genomes]
rs72647914	0.90[EUR][1000 genomes]
rs72647916	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72647918	0.92[EUR][1000 genomes]
rs72647922	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7824066	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7832898	0.81[ASN][1000 genomes]
rs7838910	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7839407	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8178016	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8178079	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8178095	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8178097	0.83[EUR][1000 genomes]
rs9657054	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48684400-48861600	Strong transcription	Dnd41	blood
2	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:48785200-48859000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr8:48785400-48833000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:48786400-48833000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:48793800-48870400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:48793800-48870800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:48800600-48836000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:48800600-48854000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:48803600-48838000	Strong transcription	Fetal Stomach	stomach
15	chr8:48814000-48853800	Strong transcription	A549	lung
16	chr8:48815400-48851600	Weak transcription	Stomach Mucosa	stomach
17	chr8:48818000-48832600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:48818000-48836400	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:48819000-48844600	Strong transcription	K562	blood
20	chr8:48820000-48832600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr8:48820000-48857400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr8:48820000-48871000	Strong transcription	Fetal Intestine Large	intestine
23	chr8:48820200-48832600	Strong transcription	Adipose Nuclei	Adipose
24	chr8:48820200-48832800	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr8:48820200-48838000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:48820200-48853400	Strong transcription	Fetal Thymus	thymus
27	chr8:48820400-48833200	Strong transcription	Fetal Lung	lung
28	chr8:48820400-48838400	Strong transcription	Primary T cells from cord blood	blood
29	chr8:48820400-48844400	Strong transcription	Brain Germinal Matrix	brain
30	chr8:48820400-48854800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:48820400-48870000	Strong transcription	H1 Cell Line	embryonic stem cell
32	chr8:48820400-48870000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr8:48820600-48837800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:48820600-48838200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr8:48822400-48845800	Weak transcription	Fetal Heart	heart
36	chr8:48822400-48870800	Strong transcription	Liver	Liver
37	chr8:48822600-48833000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:48822600-48860000	Strong transcription	Hela-S3	cervix
39	chr8:48822600-48870600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:48822600-48870800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr8:48822800-48833000	Strong transcription	HMEC	breast
42	chr8:48822800-48834800	Strong transcription	HepG2	liver
43	chr8:48823000-48833000	Strong transcription	Fetal Muscle Leg	muscle
44	chr8:48823200-48833000	Strong transcription	Placenta	Placenta
45	chr8:48823200-48838800	Strong transcription	Fetal Brain Female	brain
46	chr8:48823200-48854600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:48823200-48870600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:48824000-48837800	Strong transcription	Fetal Intestine Small	intestine
49	chr8:48824000-48843200	Weak transcription	Fetal Brain Male	brain
50	chr8:48824200-48836000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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