Variant report

Variant	rs4733768
Chromosome Location	chr8:131147397-131147398
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10089819	0.84[CHD][hapmap]
rs10091313	0.80[CHB][hapmap]
rs10113410	0.84[CHD][hapmap]
rs1017281	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10956511	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10956514	0.86[CHB][hapmap];0.86[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap]
rs1118887	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs11774690	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11774947	0.85[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11775292	0.82[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546206	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12548888	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12549794	0.84[EUR][1000 genomes]
rs13269464	0.80[CHB][hapmap];0.90[CHD][hapmap]
rs13269735	0.84[ASN][1000 genomes]
rs1469288	0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs16904191	0.86[JPT][hapmap]
rs17212137	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17282526	0.80[CHB][hapmap]
rs17284725	0.84[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs1978550	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.86[ASN][1000 genomes]
rs2005030	0.81[JPT][hapmap]
rs2033059	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2085066	0.81[JPT][hapmap]
rs2114196	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs2123870	0.80[CHB][hapmap]
rs2554373	0.80[CHB][hapmap];0.83[MEX][hapmap]
rs2894508	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.93[TSI][hapmap];0.87[YRI][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3057	0.84[CHD][hapmap]
rs3935174	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4733568	0.80[CHB][hapmap]
rs4733571	0.84[CEU][hapmap];0.86[CHB][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs4733572	0.85[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.83[ASN][1000 genomes]
rs4733770	0.95[ASN][1000 genomes]
rs4733775	0.84[CEU][hapmap];0.81[CHB][hapmap];0.85[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs4733776	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4733777	0.84[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs4733780	0.85[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4733781	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs62524640	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62524650	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62525923	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6470800	0.80[CHB][hapmap];0.92[CHD][hapmap]
rs6470802	0.80[CHB][hapmap];0.90[CHD][hapmap]
rs6470805	0.95[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.97[ASN][1000 genomes]
rs6988261	0.81[ASN][1000 genomes]
rs6992305	0.80[CHB][hapmap]
rs7012705	0.92[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7015970	0.80[CHB][hapmap]
rs72722365	0.81[ASN][1000 genomes]
rs7386417	0.80[CHB][hapmap];0.84[CHD][hapmap]
rs7460225	0.82[CHD][hapmap]
rs7460645	0.80[CHB][hapmap];0.81[CHD][hapmap]
rs7464885	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs747498	0.81[JPT][hapmap]
rs747499	0.81[JPT][hapmap]
rs750677	0.81[JPT][hapmap]
rs7832651	0.82[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833007	0.80[CHB][hapmap]
rs7839155	0.84[CEU][hapmap];0.80[GIH][hapmap];0.86[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap]
rs7839523	0.82[CHD][hapmap]
rs874617	0.81[JPT][hapmap]
rs876575	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs9297805	0.82[CHD][hapmap]
rs9643252	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs966185	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr8:131125800-131151800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:131128200-131154800	Weak transcription	Colonic Mucosa	Colon
5	chr8:131128800-131186800	Weak transcription	Fetal Brain Male	brain
6	chr8:131130400-131180200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:131137600-131154800	Weak transcription	Psoas Muscle	Psoas
8	chr8:131138800-131164600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr8:131139000-131156000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr8:131140000-131148000	Weak transcription	Fetal Heart	heart
11	chr8:131140000-131156400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:131140000-131169200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:131140400-131148200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:131141400-131164400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:131142000-131150800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr8:131142200-131151400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:131142200-131153000	Strong transcription	Fetal Muscle Leg	muscle
18	chr8:131142800-131147600	Strong transcription	Left Ventricle	heart
19	chr8:131142800-131150400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:131142800-131151800	Strong transcription	Primary T cells from cord blood	blood
21	chr8:131143000-131148600	Strong transcription	Fetal Intestine Small	intestine
22	chr8:131143000-131148800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:131143000-131149200	Strong transcription	Liver	Liver
24	chr8:131143000-131150000	Strong transcription	Stomach Smooth Muscle	stomach
25	chr8:131143000-131150200	Strong transcription	Fetal Intestine Large	intestine
26	chr8:131143000-131150600	Strong transcription	Adipose Nuclei	Adipose
27	chr8:131143000-131151200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr8:131143000-131153200	Strong transcription	Placenta	Placenta
29	chr8:131143000-131155200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:131143200-131149600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:131143200-131151000	Strong transcription	Fetal Stomach	stomach
32	chr8:131143400-131150000	Strong transcription	Duodenum Mucosa	Duodenum
33	chr8:131143400-131150200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:131143400-131153400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:131143600-131147600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:131143600-131147600	Strong transcription	Pancreas	Pancrea
37	chr8:131143600-131150200	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr8:131143600-131150400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:131143600-131150800	Strong transcription	Aorta	Aorta
40	chr8:131143800-131149200	Strong transcription	Lung	lung
41	chr8:131143800-131149400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr8:131143800-131149400	Strong transcription	Ovary	ovary
43	chr8:131143800-131150600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr8:131144000-131149200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr8:131144000-131149200	Strong transcription	Brain Hippocampus Middle	brain
46	chr8:131144000-131150600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:131144000-131156400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:131144200-131148600	Strong transcription	Brain Anterior Caudate	brain
49	chr8:131144200-131149000	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr8:131144200-131149200	Strong transcription	Brain Cingulate Gyrus	brain

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