Variant report

Variant	rs28566172
Chromosome Location	chr9:2198084-2198085
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:8)

rs_ID	r²[population]
rs10118871	1.00[EUR][1000 genomes]
rs10119676	1.00[EUR][1000 genomes]
rs10121607	0.83[ASN][1000 genomes]
rs12341162	0.96[ASN][1000 genomes]
rs12345888	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7020200	0.96[ASN][1000 genomes]
rs7868308	1.00[EUR][1000 genomes]
rs9298829	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016148	chr9:1457605-2361750	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv539916	chr9:1457605-2361750	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1021712	chr9:1647840-2216839	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv539921	chr9:1647840-2216839	Bivalent Enhancer Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1020530	chr9:1870197-2658587	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530929	chr9:1998911-2925112	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1022063	chr9:2094860-2215240	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv539926	chr9:2094860-2215240	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv892056	chr9:2124140-2227217	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv892057	chr9:2144687-2241994	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2173200-2201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:2179400-2202800	Weak transcription	Psoas Muscle	Psoas
3	chr9:2180800-2198800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr9:2181600-2198200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr9:2181600-2198800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr9:2181600-2199200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:2181600-2199400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:2181800-2198200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr9:2181800-2198200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr9:2182000-2198200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr9:2182400-2198400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr9:2182400-2199200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:2187600-2198200	Weak transcription	Thymus	Thymus
14	chr9:2188000-2201600	Weak transcription	Small Intestine	intestine
15	chr9:2188400-2202400	Strong transcription	Primary T cells from cord blood	blood
16	chr9:2188600-2198400	Strong transcription	Primary B cells from cord blood	blood
17	chr9:2189000-2199000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr9:2191600-2213800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:2191600-2221200	Weak transcription	Gastric	stomach
20	chr9:2192000-2199200	Weak transcription	HUVEC	blood vessel
21	chr9:2192200-2199800	Weak transcription	Colonic Mucosa	Colon
22	chr9:2192200-2200000	Weak transcription	Fetal Intestine Small	intestine
23	chr9:2192200-2200000	Weak transcription	Pancreas	Pancrea
24	chr9:2192200-2200200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr9:2192800-2202400	Weak transcription	Colon Smooth Muscle	Colon
26	chr9:2193000-2198400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr9:2193000-2199200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:2193200-2200400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:2193200-2200400	Weak transcription	Fetal Lung	lung
30	chr9:2193200-2208600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr9:2193600-2198800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr9:2193800-2198200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr9:2194000-2199000	Weak transcription	Fetal Brain Female	brain
34	chr9:2194000-2199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:2194000-2202200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr9:2194200-2203000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr9:2194200-2203200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr9:2194600-2198200	Strong transcription	Primary hematopoietic stem cells	blood
39	chr9:2194800-2199000	Weak transcription	Fetal Thymus	thymus
40	chr9:2195200-2199200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:2195200-2199400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:2195200-2199400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr9:2195800-2198400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr9:2195800-2198600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr9:2195800-2201800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:2196000-2198800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:2196000-2199800	Weak transcription	Placenta	Placenta
48	chr9:2196000-2200000	Weak transcription	Lung	lung
49	chr9:2196000-2200200	Weak transcription	Spleen	Spleen
50	chr9:2196000-2200400	Weak transcription	Ovary	ovary

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