Variant report

Variant	rs28475243
Chromosome Location	chr8:20123639-20123640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs28368992	1.00[EUR][1000 genomes]
rs28485611	1.00[EUR][1000 genomes]
rs28552383	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28621370	1.00[EUR][1000 genomes]
rs2898498	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34062067	1.00[EUR][1000 genomes]
rs57127754	1.00[EUR][1000 genomes]
rs57435297	1.00[EUR][1000 genomes]
rs58835058	1.00[EUR][1000 genomes]
rs6986012	1.00[EUR][1000 genomes]
rs7009375	1.00[EUR][1000 genomes]
rs73669730	1.00[EUR][1000 genomes]
rs73669753	1.00[EUR][1000 genomes]
rs73669754	1.00[EUR][1000 genomes]
rs73669756	1.00[EUR][1000 genomes]
rs7834224	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:20108400-20125200	Weak transcription	Fetal Intestine Small	intestine
2	chr8:20117200-20126000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:20117600-20125200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:20118400-20124200	Enhancers	Fetal Muscle Leg	muscle
5	chr8:20118400-20126200	Enhancers	Fetal Lung	lung
6	chr8:20118400-20126200	Enhancers	Fetal Thymus	thymus
7	chr8:20118600-20124000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:20119000-20126200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:20119600-20127000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr8:20119800-20124600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:20119800-20125200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:20120000-20124200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr8:20120000-20124600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:20120000-20124800	Weak transcription	Brain Anterior Caudate	brain
15	chr8:20120000-20124800	Weak transcription	Brain Germinal Matrix	brain
16	chr8:20120200-20124400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:20120200-20125000	Weak transcription	Fetal Heart	heart
18	chr8:20120200-20125200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:20120400-20124200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr8:20120400-20124200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:20120400-20126000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr8:20120600-20124200	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr8:20120600-20124200	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr8:20120600-20126000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:20120600-20126000	Weak transcription	Brain Substantia Nigra	brain
26	chr8:20120600-20132800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr8:20120800-20124200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr8:20121000-20126200	Enhancers	Placenta	Placenta
29	chr8:20121200-20123800	Enhancers	HMEC	breast
30	chr8:20121200-20124600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:20121200-20126000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:20121400-20125600	Weak transcription	Colonic Mucosa	Colon
33	chr8:20121400-20125800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:20121600-20123800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr8:20121600-20125400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr8:20121600-20126000	Enhancers	NHLF	lung
37	chr8:20121600-20126200	Weak transcription	Fetal Kidney	kidney
38	chr8:20121800-20125800	Enhancers	NHDF-Ad	bronchial
39	chr8:20121800-20126000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr8:20121800-20126200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr8:20122000-20123800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr8:20122000-20124000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:20122000-20125400	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:20122200-20123800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:20122200-20125800	Weak transcription	Spleen	Spleen
46	chr8:20122200-20128600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr8:20122400-20124200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:20122400-20125400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:20122400-20126000	Enhancers	Thymus	Thymus
50	chr8:20122600-20123800	Enhancers	Adipose Nuclei	Adipose

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