Variant report

Variant	rs12550234
Chromosome Location	chr8:117877476-117877477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1050838	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12543767	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16888887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16889012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16889050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289938	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3816342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876688	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs6989717	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7823787	0.81[CEU][hapmap];0.83[JPT][hapmap]
rs7839961	0.81[CEU][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv3366232	chr8:117875403-117878954	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:117856800-117877600	Strong transcription	HSMM	muscle
6	chr8:117856800-117878800	Strong transcription	Fetal Thymus	thymus
7	chr8:117857000-117879200	Strong transcription	Hela-S3	cervix
8	chr8:117857200-117878000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr8:117857400-117877600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr8:117857600-117878400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr8:117858000-117879000	Strong transcription	Primary B cells from peripheral blood	blood
12	chr8:117858200-117878400	Strong transcription	Primary B cells from cord blood	blood
13	chr8:117859600-117883800	Weak transcription	Stomach Mucosa	stomach
14	chr8:117860400-117885800	Weak transcription	Esophagus	oesophagus
15	chr8:117862200-117877600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:117864400-117882400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:117864400-117885800	Weak transcription	Gastric	stomach
18	chr8:117864800-117878400	Weak transcription	Aorta	Aorta
19	chr8:117864800-117884000	Weak transcription	Right Ventricle	heart
20	chr8:117865200-117882400	Weak transcription	Lung	lung
21	chr8:117865200-117885800	Weak transcription	Pancreas	Pancrea
22	chr8:117865600-117881600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:117865600-117885800	Weak transcription	Spleen	Spleen
24	chr8:117866800-117878200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr8:117867000-117885200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:117867000-117885600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:117868600-117881000	Weak transcription	Fetal Brain Male	brain
28	chr8:117869000-117878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:117869800-117878800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr8:117870000-117884400	Weak transcription	Colonic Mucosa	Colon
31	chr8:117870200-117884800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr8:117871000-117878200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr8:117872000-117877600	Weak transcription	Fetal Stomach	stomach
34	chr8:117872200-117878400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr8:117872400-117878000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:117872600-117884400	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr8:117872800-117878000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:117873000-117879400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:117873000-117882600	Weak transcription	Fetal Kidney	kidney
40	chr8:117873200-117878200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:117873800-117878600	Weak transcription	Brain Germinal Matrix	brain
42	chr8:117873800-117883000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:117874000-117877800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr8:117874800-117877600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr8:117875000-117878200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:117875000-117879000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr8:117875200-117878600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:117875200-117879000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
49	chr8:117875200-117880400	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr8:117875400-117877600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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