Variant report

Variant	rs428986
Chromosome Location	chr5:80923691-80923692
allele	A/G
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:11)

rs_ID	r²[population]
rs1436499	0.81[EUR][1000 genomes]
rs1561150	0.99[ASN][1000 genomes]
rs2973338	0.81[EUR][1000 genomes]
rs382297	0.81[EUR][1000 genomes]
rs386874	0.81[EUR][1000 genomes]
rs389847	0.86[ASN][1000 genomes]
rs435333	0.90[ASN][1000 genomes]
rs442417	0.96[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs446696	0.85[ASN][1000 genomes]
rs724913	0.81[EUR][1000 genomes]
rs7707981	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882233	chr5:80849084-81049187	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv882234	chr5:80853708-80966666	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv525437	chr5:80876359-80964452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv462222	chr5:80900719-80964452	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv598752	chr5:80900719-80964452	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882235	chr5:80909132-81006061	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv830361	chr5:80909811-81080409	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80893400-80926000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:80905200-80926000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:80906000-80927000	Weak transcription	Gastric	stomach
4	chr5:80906000-80929400	Weak transcription	Fetal Brain Female	brain
5	chr5:80906000-80935000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:80906000-80946600	Weak transcription	Brain Anterior Caudate	brain
7	chr5:80906000-80947000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:80906200-80925000	Weak transcription	Pancreas	Pancrea
9	chr5:80906200-80926600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:80906200-80927000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:80906200-80927200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:80906200-80927600	Weak transcription	Lung	lung
13	chr5:80906200-80930600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:80906200-80933000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr5:80906200-80938800	Weak transcription	Left Ventricle	heart
16	chr5:80906200-80942400	Weak transcription	Esophagus	oesophagus
17	chr5:80906200-80947800	Weak transcription	Brain Germinal Matrix	brain
18	chr5:80906400-80926000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr5:80906600-80936200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:80909600-80926600	Weak transcription	Primary T cells from cord blood	blood
21	chr5:80909600-80933200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr5:80910000-80930600	Weak transcription	Adipose Nuclei	Adipose
23	chr5:80910400-80953000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr5:80910800-80924800	Weak transcription	Thymus	Thymus
25	chr5:80910800-80949200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:80911400-80925400	Weak transcription	Fetal Kidney	kidney
27	chr5:80918200-80934800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:80918400-80923800	Weak transcription	Primary B cells from cord blood	blood
29	chr5:80918400-80938800	Weak transcription	Fetal Stomach	stomach
30	chr5:80918400-80939800	Weak transcription	Fetal Lung	lung
31	chr5:80918600-80926000	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:80918800-80935200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:80920600-80946800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:80921000-80925800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:80921200-80927000	Weak transcription	Small Intestine	intestine
36	chr5:80921200-80983000	Weak transcription	Aorta	Aorta
37	chr5:80921600-80923800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:80922200-80924000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr5:80922400-80923800	Enhancers	Psoas Muscle	Psoas
40	chr5:80922400-80925800	Genic enhancers	Dnd41	blood
41	chr5:80922600-80923800	Weak transcription	GM12878-XiMat	blood
42	chr5:80922600-80929400	Weak transcription	Fetal Muscle Leg	muscle
43	chr5:80922600-80933600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:80922600-80935800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:80922600-80937600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:80922800-80934600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:80922800-80935000	Weak transcription	Colon Smooth Muscle	Colon
48	chr5:80923000-80924400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr5:80923000-80952800	Weak transcription	Fetal Intestine Large	intestine
50	chr5:80923200-80923800	Enhancers	Primary hematopoietic stem cells	blood

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