Variant report

Variant	rs2466760
Chromosome Location	chr8:48689893-48689894
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1231202	0.81[EUR][1000 genomes]
rs2632502	0.84[EUR][1000 genomes]
rs2725277	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4278157	0.93[EUR][1000 genomes]
rs8178108	0.91[EUR][1000 genomes]
rs9298499	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1026287	chr8:48615720-48710849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1016915	chr8:48653136-48710849	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv539597	chr8:48653136-48710849	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 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	chr8:48677400-48690200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:48678200-48693800	Weak transcription	Stomach Mucosa	stomach
3	chr8:48678400-48700000	Weak transcription	Small Intestine	intestine
4	chr8:48679400-48690800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:48679800-48709600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:48684000-48690200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr8:48684000-48721000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:48684000-48722200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:48684200-48695600	Strong transcription	HSMM	muscle
10	chr8:48684200-48701600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:48684200-48704000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:48684200-48733800	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:48684200-48733800	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr8:48684200-48734200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:48684400-48698400	Strong transcription	H1 Cell Line	embryonic stem cell
16	chr8:48684400-48698600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr8:48684400-48702200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:48684400-48704200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:48684400-48755200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:48684400-48778800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:48684400-48861600	Strong transcription	Dnd41	blood
22	chr8:48684600-48691400	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr8:48684600-48692400	Strong transcription	K562	blood
24	chr8:48684600-48696400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr8:48684600-48698400	Strong transcription	GM12878-XiMat	blood
26	chr8:48684600-48702000	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr8:48684600-48721400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr8:48684800-48728200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr8:48685000-48691000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:48685000-48691400	Strong transcription	Brain Hippocampus Middle	brain
31	chr8:48685000-48691600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:48685000-48694600	Strong transcription	Primary B cells from cord blood	blood
33	chr8:48685000-48698400	Strong transcription	Liver	Liver
34	chr8:48685000-48713200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:48685000-48818800	Strong transcription	Fetal Thymus	thymus
36	chr8:48685200-48691600	Strong transcription	Fetal Brain Female	brain
37	chr8:48685200-48695200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr8:48685200-48696200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:48685200-48701600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:48685200-48707600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr8:48685200-48713400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr8:48685200-48734000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:48685400-48690200	Weak transcription	Fetal Heart	heart
44	chr8:48685400-48691400	Strong transcription	Adipose Nuclei	Adipose
45	chr8:48685400-48691600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:48685400-48691600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:48685400-48696400	Strong transcription	Fetal Intestine Large	intestine
48	chr8:48685400-48696600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:48685400-48696800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:48685400-48697000	Strong transcription	Fetal Intestine Small	intestine

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