Variant report

Variant	rs28579846
Chromosome Location	chr8:55051126-55051127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54932275..54935937-chr8:55049392..55052839,3	MCF-7	breast:
2	chr8:55048621..55051389-chr8:55064149..55065674,2	MCF-7	breast:
3	chr8:55045967..55049288-chr8:55050352..55053333,3	MCF-7	breast:
4	chr8:55046961..55051250-chr8:55057827..55066628,8	K562	blood:
5	chr8:54933199..54936650-chr8:55046856..55051256,7	K562	blood:

Variant related genes	Relation type
ENSG00000187735	Chromatin interaction
ENSG00000251835	Chromatin interaction
ENSG00000137547	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10081501	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10087770	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10095087	1.00[AMR][1000 genomes]
rs10100207	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28524857	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28670350	0.99[AFR][1000 genomes]
rs57873951	1.00[AMR][1000 genomes]
rs73592946	0.96[AFR][1000 genomes]
rs73592947	1.00[AMR][1000 genomes]
rs73592950	0.84[AFR][1000 genomes];1.00[AMR][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
4	nsv890924	chr8:54994759-55052148	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv890925	chr8:55005489-55052148	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 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	chr8:55048200-55055400	Weak transcription	Spleen	Spleen
2	chr8:55048400-55055200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr8:55048400-55055200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:55048400-55055600	Weak transcription	Gastric	stomach
5	chr8:55048400-55056200	Weak transcription	Small Intestine	intestine
6	chr8:55048600-55053600	Weak transcription	HSMMtube	muscle
7	chr8:55048600-55055200	Weak transcription	Brain Substantia Nigra	brain
8	chr8:55048600-55055400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:55048600-55055400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr8:55048600-55055400	Weak transcription	Colonic Mucosa	Colon
11	chr8:55048600-55056000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:55048600-55056200	Weak transcription	Aorta	Aorta
13	chr8:55048600-55065600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:55048600-55066200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr8:55048800-55056200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:55048800-55063200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr8:55049000-55051600	Strong transcription	Fetal Thymus	thymus
18	chr8:55049000-55052200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:55049000-55055200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:55049000-55055600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:55049000-55056000	Weak transcription	Brain Angular Gyrus	brain
22	chr8:55049000-55056000	Weak transcription	Stomach Mucosa	stomach
23	chr8:55049000-55057600	Weak transcription	Psoas Muscle	Psoas
24	chr8:55049000-55061800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:55049000-55062000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:55049000-55065800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:55049200-55051200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:55049200-55051600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:55049200-55052200	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr8:55049200-55053800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr8:55049200-55054200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr8:55049200-55055200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr8:55049200-55055200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:55049200-55055400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr8:55049200-55055400	Weak transcription	Right Ventricle	heart
36	chr8:55049200-55055600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr8:55049200-55055800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr8:55049200-55056200	Weak transcription	Fetal Brain Male	brain
39	chr8:55049200-55056400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:55049200-55061600	Strong transcription	Osteobl	bone
41	chr8:55049200-55063800	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr8:55049200-55063800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:55049200-55064000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:55049200-55064000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:55049200-55064000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:55049200-55064000	Strong transcription	Fetal Intestine Large	intestine
47	chr8:55049200-55064200	Strong transcription	Fetal Muscle Trunk	muscle
48	chr8:55049200-55064600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:55049400-55051200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:55049400-55051800	Strong transcription	Sigmoid Colon	Sigmoid Colon

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