Variant report

Variant	rs28380096
Chromosome Location	chr8:131099914-131099915
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131099858..131101381-chr8:131107390..131110366,2	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10085959	0.81[AFR][1000 genomes]
rs10088575	0.96[AFR][1000 genomes]
rs10101611	0.83[AFR][1000 genomes]
rs10106205	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1031474	0.80[AFR][1000 genomes]
rs1031475	0.84[AFR][1000 genomes]
rs11774131	0.98[EUR][1000 genomes]
rs11776863	0.90[EUR][1000 genomes]
rs11777354	0.85[EUR][1000 genomes]
rs11778454	1.00[EUR][1000 genomes]
rs11779191	1.00[EUR][1000 genomes]
rs11781272	0.89[EUR][1000 genomes]
rs11781294	0.89[EUR][1000 genomes]
rs11781851	0.95[EUR][1000 genomes]
rs11782152	0.89[EUR][1000 genomes]
rs11782883	1.00[EUR][1000 genomes]
rs11783860	0.95[EUR][1000 genomes]
rs11783940	0.98[EUR][1000 genomes]
rs11787251	0.86[EUR][1000 genomes]
rs11986237	0.96[AFR][1000 genomes]
rs11988989	0.92[AFR][1000 genomes]
rs12679149	0.85[AFR][1000 genomes]
rs28620907	0.87[AFR][1000 genomes]
rs28759724	0.89[EUR][1000 genomes]
rs4319146	0.95[EUR][1000 genomes]
rs4639572	0.97[EUR][1000 genomes]
rs55756220	0.96[AFR][1000 genomes]
rs6470801	0.82[AFR][1000 genomes]
rs6989965	0.98[EUR][1000 genomes]
rs7003309	0.87[AFR][1000 genomes]
rs7003568	0.97[EUR][1000 genomes]
rs7004884	0.82[AFR][1000 genomes]
rs7008180	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72722303	0.89[EUR][1000 genomes]
rs72722310	0.98[EUR][1000 genomes]
rs72722316	0.97[EUR][1000 genomes]
rs72722318	0.98[EUR][1000 genomes]
rs72722323	0.98[EUR][1000 genomes]
rs72722325	1.00[EUR][1000 genomes]
rs72722339	0.95[EUR][1000 genomes]
rs72722344	0.95[EUR][1000 genomes]
rs72722347	0.95[EUR][1000 genomes]
rs72722349	0.95[EUR][1000 genomes]
rs72722355	0.89[EUR][1000 genomes]
rs752716	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
10	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131062400-131106200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr8:131062600-131110600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131062800-131106400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:131070400-131101600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:131075000-131106800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:131075600-131105000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
8	chr8:131080400-131107000	Strong transcription	Placenta	Placenta
9	chr8:131082400-131105400	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:131083400-131104800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:131083400-131104800	Strong transcription	Fetal Intestine Large	intestine
12	chr8:131083600-131105600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:131084000-131107400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:131084200-131104800	Strong transcription	Fetal Stomach	stomach
15	chr8:131084400-131104600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:131084400-131105600	Weak transcription	Stomach Mucosa	stomach
17	chr8:131087800-131109600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:131088200-131101200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr8:131089400-131107200	Strong transcription	NHEK	skin
20	chr8:131090200-131101000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:131091000-131120000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:131091200-131102800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:131091800-131106800	Strong transcription	A549	lung
24	chr8:131092400-131100600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:131092400-131101200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:131092600-131102600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:131092800-131107200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:131093200-131105200	Strong transcription	HUVEC	blood vessel
29	chr8:131093200-131106000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:131094000-131102400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:131094000-131104200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:131094000-131105200	Strong transcription	Primary T cells from cord blood	blood
33	chr8:131094200-131100600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:131094200-131101000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:131094200-131101000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:131094200-131101200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr8:131094400-131100200	Weak transcription	Brain Anterior Caudate	brain
38	chr8:131094400-131100600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:131094400-131101000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr8:131094400-131102600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr8:131094600-131100400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:131095000-131104800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:131095000-131105000	Strong transcription	Liver	Liver
44	chr8:131095000-131105400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:131095200-131104400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:131095200-131104600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:131095200-131105000	Strong transcription	Primary B cells from peripheral blood	blood
48	chr8:131095200-131105000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr8:131095200-131105000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr8:131095200-131105400	Strong transcription	NH-A	brain

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