Variant report

Variant	rs28812773
Chromosome Location	chr8:48784212-48784213
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48783935..48786261-chr8:48795994..48797522,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10093943	0.83[AFR][1000 genomes]
rs10095249	0.83[AFR][1000 genomes]
rs10097429	0.83[AFR][1000 genomes]
rs10106803	0.81[AFR][1000 genomes]
rs10108990	0.83[AFR][1000 genomes]
rs11987748	0.83[AFR][1000 genomes]
rs11997023	0.81[AFR][1000 genomes]
rs11998483	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17287711	0.85[AFR][1000 genomes]
rs28488251	0.83[AFR][1000 genomes]
rs28542480	0.83[AFR][1000 genomes]
rs28603312	0.81[AFR][1000 genomes]
rs28701667	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28719542	0.85[AFR][1000 genomes]
rs28751111	0.83[AFR][1000 genomes]
rs35590911	0.83[AFR][1000 genomes]
rs6473874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6980675	0.81[AFR][1000 genomes]
rs6982040	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6982203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6984595	0.82[AFR][1000 genomes]
rs7002719	0.81[AFR][1000 genomes]
rs7010172	0.83[AFR][1000 genomes]
rs73677550	0.83[AFR][1000 genomes]
rs7819424	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7839604	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7841307	0.81[AFR][1000 genomes]
rs8178024	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178037	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178117	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178176	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178185	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8178253	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv3342946	chr8:48778448-48802085	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 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	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
3	chr8:48722600-48798800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:48723000-48793400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:48726200-48793400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:48726400-48870400	Strong transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:48730000-48871600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr8:48738400-48818800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:48739600-48793400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:48739600-48799400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:48739600-48822200	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:48739600-48870600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr8:48739800-48793400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:48739800-48870400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:48751400-48805800	Strong transcription	Fetal Lung	lung
16	chr8:48756600-48793400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:48758200-48799600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:48759200-48785000	Strong transcription	Hela-S3	cervix
19	chr8:48759800-48808400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr8:48761000-48793400	Strong transcription	Primary B cells from cord blood	blood
21	chr8:48762400-48786000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr8:48771800-48786600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr8:48775200-48796000	Weak transcription	Small Intestine	intestine
24	chr8:48775400-48786200	Weak transcription	Fetal Brain Male	brain
25	chr8:48775400-48788600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr8:48775400-48800200	Weak transcription	Stomach Mucosa	stomach
27	chr8:48775600-48791400	Weak transcription	Fetal Heart	heart
28	chr8:48776800-48797200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:48777200-48787200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr8:48777200-48788400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:48777200-48788600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:48777200-48789400	Weak transcription	Brain Substantia Nigra	brain
33	chr8:48777200-48790800	Weak transcription	Psoas Muscle	Psoas
34	chr8:48777200-48791000	Weak transcription	HSMMtube	muscle
35	chr8:48777400-48788600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:48777800-48786800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:48778600-48784800	Strong transcription	HSMM	muscle
38	chr8:48778600-48793400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr8:48778600-48838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr8:48778800-48785400	Strong transcription	K562	blood
41	chr8:48778800-48788000	Strong transcription	HepG2	liver
42	chr8:48778800-48795800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:48778800-48808200	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:48778800-48818200	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr8:48778800-48818800	Strong transcription	Duodenum Mucosa	Duodenum
46	chr8:48779000-48786000	Weak transcription	Fetal Kidney	kidney
47	chr8:48779400-48808200	Strong transcription	Primary B cells from peripheral blood	blood
48	chr8:48779400-48815800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr8:48779600-48793400	Strong transcription	Fetal Intestine Large	intestine
50	chr8:48779800-48822200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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