Variant report

Variant	rs28393360
Chromosome Location	chr8:126619477-126619478
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126619050..126624593-chr8:126625487..126628558,5	MCF-7	breast:
2	chr8:126538658..126542290-chr8:126619301..126623874,4	MCF-7	breast:
3	chr8:126610735..126612592-chr8:126617138..126620158,3	MCF-7	breast:
4	chr8:126612725..126615017-chr8:126618565..126620143,2	MCF-7	breast:
5	chr8:126440493..126443546-chr8:126619136..126621906,3	MCF-7	breast:
6	chr8:126605898..126607935-chr8:126618594..126621504,4	MCF-7	breast:
7	chr8:126618476..126621676-chr8:126622245..126624732,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10086276	0.92[EUR][1000 genomes]
rs10086636	0.93[EUR][1000 genomes]
rs10094725	0.93[EUR][1000 genomes]
rs10111011	0.86[EUR][1000 genomes]
rs12334935	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12386920	0.90[EUR][1000 genomes]
rs12543922	0.93[EUR][1000 genomes]
rs12546476	0.89[EUR][1000 genomes]
rs12547829	0.94[EUR][1000 genomes]
rs1454616	0.94[EUR][1000 genomes]
rs1454619	0.94[EUR][1000 genomes]
rs1454620	0.94[EUR][1000 genomes]
rs28550378	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4870946	0.90[EUR][1000 genomes]
rs4871618	0.85[EUR][1000 genomes]
rs4871619	0.89[EUR][1000 genomes]
rs4871621	0.90[EUR][1000 genomes]
rs6980895	0.87[EUR][1000 genomes]
rs6981560	0.93[EUR][1000 genomes]
rs6986030	0.93[EUR][1000 genomes]
rs6986139	0.93[EUR][1000 genomes]
rs6986305	0.93[EUR][1000 genomes]
rs6996614	0.81[EUR][1000 genomes]
rs6996809	0.90[EUR][1000 genomes]
rs7001406	0.89[EUR][1000 genomes]
rs7008590	0.93[EUR][1000 genomes]
rs7012744	0.90[EUR][1000 genomes]
rs7012936	0.90[EUR][1000 genomes]
rs897158	0.89[EUR][1000 genomes]
rs897161	0.83[EUR][1000 genomes]
rs9297718	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126608600-126619800	Weak transcription	Small Intestine	intestine
2	chr8:126609600-126619800	Weak transcription	Esophagus	oesophagus
3	chr8:126611800-126622600	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:126612200-126625400	Enhancers	Primary B cells from cord blood	blood
5	chr8:126613200-126621800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:126613600-126620600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:126613600-126620800	Enhancers	HMEC	breast
8	chr8:126613600-126621000	Enhancers	NHEK	skin
9	chr8:126613800-126621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:126614200-126620000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:126615600-126620400	Weak transcription	HUVEC	blood vessel
12	chr8:126616400-126621600	Enhancers	Placenta	Placenta
13	chr8:126616400-126622800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr8:126616800-126619600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr8:126616800-126619600	Weak transcription	Brain Substantia Nigra	brain
16	chr8:126616800-126620400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:126616800-126621600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr8:126616800-126621600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr8:126617000-126619600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:126617000-126619600	Weak transcription	Brain Anterior Caudate	brain
21	chr8:126617200-126619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:126617200-126619800	Weak transcription	Adipose Nuclei	Adipose
23	chr8:126617200-126619800	Weak transcription	Osteobl	bone
24	chr8:126617400-126619800	Weak transcription	Stomach Mucosa	stomach
25	chr8:126617400-126621600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:126617400-126621600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr8:126617600-126619600	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:126617600-126619800	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr8:126617600-126620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr8:126617800-126621000	Enhancers	Hela-S3	cervix
31	chr8:126618000-126619600	Weak transcription	Fetal Thymus	thymus
32	chr8:126618000-126620000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr8:126618000-126621400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr8:126618400-126619800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:126618400-126620200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:126618400-126620600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:126618400-126621400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:126618400-126621400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:126618600-126619800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:126618600-126620000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr8:126618600-126621400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr8:126618800-126619600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr8:126618800-126619800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:126618800-126619800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:126618800-126619800	Weak transcription	Gastric	stomach
46	chr8:126618800-126619800	Weak transcription	Lung	lung
47	chr8:126618800-126619800	Weak transcription	Spleen	Spleen
48	chr8:126618800-126620400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:126618800-126620400	Weak transcription	Right Atrium	heart
50	chr8:126618800-126620600	Weak transcription	Colonic Mucosa	Colon

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