Variant report

Variant	rs28593581
Chromosome Location	chr8:87428878-87428879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87427807..87429419-chr8:87440053..87442565,2	MCF-7	breast:
2	chr8:87427033..87429917-chr8:87470786..87473472,2	MCF-7	breast:
3	chr8:87427506..87429121-chr8:87437907..87440675,2	MCF-7	breast:
4	chr8:87427165..87429419-chr8:87519742..87522067,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000123124	Chromatin interaction
ENSG00000176623	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10090107	1.00[AFR][1000 genomes]
rs10099858	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs10101337	0.86[AFR][1000 genomes]
rs10106735	0.88[AFR][1000 genomes]
rs16912199	0.85[AFR][1000 genomes]
rs16914543	0.87[AFR][1000 genomes]
rs28361918	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs28504305	0.89[AFR][1000 genomes]
rs60177164	0.87[AFR][1000 genomes]
rs7012745	0.81[AFR][1000 genomes]
rs73254743	0.91[AFR][1000 genomes]
rs73254771	0.90[AFR][1000 genomes]
rs73688826	0.85[AFR][1000 genomes]
rs7461904	0.83[AFR][1000 genomes]
rs7839610	0.85[AFR][1000 genomes]
rs7841007	0.81[AFR][1000 genomes]
rs9656828	0.81[AFR][1000 genomes];0.83[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	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:87381000-87430800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
5	chr8:87388400-87430600	Weak transcription	Fetal Kidney	kidney
6	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
7	chr8:87397400-87431200	Weak transcription	Fetal Brain Female	brain
8	chr8:87399800-87429000	Weak transcription	Thymus	Thymus
9	chr8:87403000-87429000	Weak transcription	Gastric	stomach
10	chr8:87403000-87430600	Weak transcription	Esophagus	oesophagus
11	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:87404400-87429000	Weak transcription	Aorta	Aorta
13	chr8:87404400-87429000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:87405400-87443600	Weak transcription	NHLF	lung
15	chr8:87405800-87429200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:87406000-87433000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:87406800-87437400	Weak transcription	HSMM	muscle
18	chr8:87409000-87435000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:87409200-87440800	Weak transcription	Spleen	Spleen
20	chr8:87411200-87429000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:87411400-87429600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr8:87414400-87431400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr8:87414800-87430600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:87415200-87437400	Weak transcription	NHDF-Ad	bronchial
25	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr8:87418200-87440800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr8:87419400-87430600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr8:87419400-87437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:87422200-87432800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:87422200-87440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:87422200-87441200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:87423000-87432600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr8:87423400-87431400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr8:87424000-87429400	Enhancers	Stomach Mucosa	stomach
35	chr8:87424400-87430600	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:87424600-87430600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:87424800-87429800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:87425000-87429000	Weak transcription	Colonic Mucosa	Colon
39	chr8:87425000-87430600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:87425200-87429400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr8:87425200-87430800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:87425400-87430600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr8:87425600-87429200	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:87425600-87430400	Weak transcription	Osteobl	bone
45	chr8:87425800-87429000	Weak transcription	Fetal Stomach	stomach
46	chr8:87425800-87429000	Weak transcription	Pancreas	Pancrea
47	chr8:87426000-87429000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr8:87426000-87429200	Weak transcription	Lung	lung
49	chr8:87426000-87429800	Enhancers	Brain Hippocampus Middle	brain
50	chr8:87426000-87430000	Weak transcription	Fetal Muscle Leg	muscle

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