Variant report

Variant	rs73212547
Chromosome Location	chr8:19312666-19312667
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17408029	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015395	chr8:18489538-19370258	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv429907	chr8:18578720-19398220	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv949745	chr8:18826830-19363963	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1016482	chr8:18834807-19339487	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv533109	chr8:18845845-19456780	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	esv3693374	chr8:19241970-19359184	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	esv34007	chr8:19252602-19482098	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
11	nsv1022344	chr8:19270143-19324083	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv890623	chr8:19307051-19383697	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19295000-19318800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:19296600-19317400	Weak transcription	Hela-S3	cervix
3	chr8:19297400-19313400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr8:19297600-19319000	Weak transcription	Spleen	Spleen
5	chr8:19300000-19313800	Weak transcription	Fetal Heart	heart
6	chr8:19300600-19319200	Weak transcription	Gastric	stomach
7	chr8:19301600-19317200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:19302800-19317800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:19303200-19313800	Weak transcription	HUVEC	blood vessel
10	chr8:19303400-19315200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr8:19305600-19313200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:19305600-19317600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr8:19305600-19318400	Weak transcription	Pancreas	Pancrea
14	chr8:19305800-19313000	Weak transcription	Placenta	Placenta
15	chr8:19306800-19322400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr8:19308000-19313000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:19308000-19313000	Weak transcription	Fetal Kidney	kidney
18	chr8:19308200-19313000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr8:19308200-19313800	Weak transcription	Adipose Nuclei	Adipose
20	chr8:19308200-19317000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr8:19308200-19317000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:19308200-19317400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:19308200-19319000	Weak transcription	Lung	lung
24	chr8:19308400-19313200	Weak transcription	Left Ventricle	heart
25	chr8:19308400-19313200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:19308400-19317200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr8:19308400-19318200	Weak transcription	Right Ventricle	heart
28	chr8:19309400-19313000	Weak transcription	HepG2	liver
29	chr8:19309400-19315200	Weak transcription	Stomach Mucosa	stomach
30	chr8:19309800-19313600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr8:19309800-19318400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr8:19310000-19313400	Weak transcription	Brain Angular Gyrus	brain
33	chr8:19310400-19313200	Weak transcription	A549	lung
34	chr8:19310400-19313400	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:19310400-19315400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:19310400-19317400	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr8:19310400-19317600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:19310600-19313000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:19310600-19313000	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:19310600-19315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr8:19310600-19315800	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr8:19310600-19359600	Weak transcription	Ovary	ovary
43	chr8:19310800-19317400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:19311200-19313800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:19311200-19314400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr8:19311200-19318000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr8:19311400-19313800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:19311400-19313800	Weak transcription	Right Atrium	heart
49	chr8:19311400-19314000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr8:19311400-19315200	Weak transcription	Primary B cells from peripheral blood	blood

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