Variant report

Variant	rs12335300
Chromosome Location	chr8:42875485-42875486
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10088710	1.00[AMR][1000 genomes]
rs10099800	1.00[AMR][1000 genomes]
rs10103044	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11990230	1.00[AMR][1000 genomes]
rs11998152	1.00[AMR][1000 genomes]
rs61156492	1.00[AMR][1000 genomes]
rs73569598	1.00[AMR][1000 genomes]
rs73569600	1.00[AMR][1000 genomes]
rs73571504	1.00[AMR][1000 genomes]
rs73571506	1.00[AMR][1000 genomes]
rs73571592	1.00[AMR][1000 genomes]
rs73573418	1.00[AMR][1000 genomes]
rs73573422	1.00[AMR][1000 genomes]
rs73573427	1.00[AMR][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	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS 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	80 gene(s)	inside rSNPs	diseases
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:42848400-42877200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr8:42848400-42879600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:42856800-42877200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
8	chr8:42860400-42883200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:42861400-42883200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr8:42861600-42881800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:42862200-42877800	Strong transcription	Fetal Muscle Trunk	muscle
12	chr8:42862400-42876600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:42862400-42877800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:42862400-42878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:42862400-42881000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:42862400-42883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:42862400-42883200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:42862400-42884600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr8:42863000-42878000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr8:42863000-42881600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr8:42863000-42883200	Strong transcription	Adipose Nuclei	Adipose
22	chr8:42863000-42883200	Strong transcription	Placenta	Placenta
23	chr8:42863400-42879400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:42864000-42883200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:42864000-42889400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:42864200-42876000	Strong transcription	Liver	Liver
27	chr8:42864200-42876400	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr8:42864200-42877600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr8:42864200-42877800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:42864200-42881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr8:42864400-42877600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:42864400-42877600	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:42864600-42876200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr8:42865200-42877600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr8:42865400-42877600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:42865400-42877600	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr8:42866000-42889400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:42866200-42889600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr8:42867200-42889400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr8:42867400-42884200	Weak transcription	Colonic Mucosa	Colon
41	chr8:42867600-42884200	Weak transcription	A549	lung
42	chr8:42868000-42889400	Weak transcription	NHEK	skin
43	chr8:42868000-42891600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:42868800-42876600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr8:42869000-42876200	Strong transcription	Fetal Lung	lung
46	chr8:42869000-42882600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr8:42869200-42883400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr8:42870200-42882200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:42870200-42890800	Weak transcription	Fetal Brain Male	brain
50	chr8:42870600-42876600	Strong transcription	Brain Germinal Matrix	brain

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