Variant report

Variant	rs28408352
Chromosome Location	chr8:48256146-48256147
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10086266	1.00[AMR][1000 genomes]
rs10090708	1.00[AFR][1000 genomes]
rs10092312	1.00[AMR][1000 genomes]
rs10094689	1.00[AFR][1000 genomes]
rs10099084	1.00[AMR][1000 genomes]
rs10099656	1.00[AMR][1000 genomes]
rs10101059	1.00[AMR][1000 genomes]
rs10104642	1.00[AFR][1000 genomes]
rs10110049	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10110990	1.00[AMR][1000 genomes]
rs10111833	0.92[AFR][1000 genomes]
rs11987727	1.00[AMR][1000 genomes]
rs11993708	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28382309	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28393034	1.00[AMR][1000 genomes]
rs28475848	1.00[AMR][1000 genomes]
rs28499454	1.00[AMR][1000 genomes]
rs28516473	1.00[AMR][1000 genomes]
rs28523467	1.00[AMR][1000 genomes]
rs28533391	1.00[AFR][1000 genomes]
rs28587193	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631595	1.00[AMR][1000 genomes]
rs28700053	1.00[AMR][1000 genomes]
rs28704586	1.00[AMR][1000 genomes]
rs28713743	1.00[AMR][1000 genomes]
rs28812531	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28846165	1.00[AMR][1000 genomes]
rs28897086	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59944663	1.00[AMR][1000 genomes]
rs6989067	1.00[AFR][1000 genomes]
rs6994360	0.92[AFR][1000 genomes]
rs7003614	0.80[AFR][1000 genomes]
rs7014936	0.88[AFR][1000 genomes]
rs73676125	1.00[AMR][1000 genomes]
rs73676311	1.00[AMR][1000 genomes]
rs73676316	1.00[AMR][1000 genomes]
rs7821542	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823419	1.00[AMR][1000 genomes]
rs7831198	0.92[AFR][1000 genomes]
rs9657080	0.92[AFR][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	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	esv2758155	chr8:48188989-48321308	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv2759610	chr8:48188989-48321308	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv1817304	chr8:48205314-48321308	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48207400-48258000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr8:48209400-48266000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:48228600-48265800	Weak transcription	K562	blood
4	chr8:48230400-48256200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr8:48230400-48267400	Weak transcription	Spleen	Spleen
6	chr8:48238800-48274600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:48239000-48265800	Weak transcription	Aorta	Aorta
8	chr8:48244200-48256200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr8:48247800-48276400	Weak transcription	Colonic Mucosa	Colon
10	chr8:48248800-48309600	Weak transcription	Thymus	Thymus
11	chr8:48249200-48265600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:48249200-48282000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr8:48249800-48266000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr8:48249800-48267200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:48249800-48277400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:48249800-48277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr8:48251800-48258000	Weak transcription	Psoas Muscle	Psoas
18	chr8:48252400-48265000	Weak transcription	HSMMtube	muscle
19	chr8:48252600-48256200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:48253000-48256400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:48253200-48256400	Enhancers	Stomach Mucosa	stomach
22	chr8:48253400-48267200	Weak transcription	Lung	lung
23	chr8:48253400-48274400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr8:48253600-48273800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr8:48253800-48264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr8:48254200-48256400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr8:48254400-48257200	Weak transcription	Small Intestine	intestine
28	chr8:48254400-48260000	Weak transcription	HepG2	liver
29	chr8:48254600-48262200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr8:48254600-48265000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr8:48254600-48265000	Weak transcription	A549	lung
32	chr8:48254600-48268400	Weak transcription	Gastric	stomach
33	chr8:48254800-48261800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr8:48254800-48261800	Weak transcription	Fetal Intestine Large	intestine
35	chr8:48254800-48263400	Weak transcription	Hela-S3	cervix
36	chr8:48254800-48264400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr8:48254800-48265000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr8:48255000-48265800	Weak transcription	Ovary	ovary
39	chr8:48255200-48256800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:48255200-48261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:48255600-48261800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:48255800-48256400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:48255800-48256400	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr8:48255800-48256400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
45	chr8:48255800-48256400	ZNF genes & repeats	Dnd41	blood
46	chr8:48255800-48256600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:48255800-48256600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:48255800-48256600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr8:48256000-48256200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr8:48256000-48256200	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin

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