Variant report

Variant	rs6415569
Chromosome Location	chr8:95806362-95806363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10100724	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10100860	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11785908	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11996148	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12543525	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13249787	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13271653	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13277564	0.85[EUR][1000 genomes]
rs13279429	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs13282508	0.80[EUR][1000 genomes]
rs35769195	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35937656	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4236830	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4268099	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4332100	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4377930	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4377931	0.93[ASN][1000 genomes]
rs4398879	0.90[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4448241	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4478541	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4545065	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4548144	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4548145	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734288	0.82[JPT][hapmap]
rs4735323	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4735325	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6415570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471488	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471489	1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471490	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471491	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471493	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471494	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6985400	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988572	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6988791	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6992217	0.90[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6996787	0.85[EUR][1000 genomes]
rs6999453	1.00[JPT][hapmap];0.93[AFR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7006999	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7014120	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs7017149	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7459539	0.82[JPT][hapmap]
rs7824040	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7832492	0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7837111	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7837249	0.82[JPT][hapmap]
rs7840272	0.90[ASN][1000 genomes]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6415569	TP53INP1	cis	cerebellum	SCAN
rs6415569	LOC203107	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
3	chr8:95752400-95809200	Weak transcription	NHLF	lung
4	chr8:95773600-95809400	Weak transcription	HSMMtube	muscle
5	chr8:95780800-95808000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:95785000-95809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:95785800-95809200	Weak transcription	Colon Smooth Muscle	Colon
8	chr8:95786200-95811600	Weak transcription	Spleen	Spleen
9	chr8:95786200-95812800	Weak transcription	Gastric	stomach
10	chr8:95786400-95809600	Weak transcription	Lung	lung
11	chr8:95786600-95807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:95791200-95809600	Weak transcription	Brain Angular Gyrus	brain
13	chr8:95791400-95806600	Weak transcription	Aorta	Aorta
14	chr8:95791400-95809800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:95791400-95812400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr8:95791600-95809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:95792000-95811600	Weak transcription	Thymus	Thymus
18	chr8:95792200-95809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:95794000-95809400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:95794000-95809600	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:95794200-95809800	Weak transcription	K562	blood
22	chr8:95794600-95809000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr8:95794800-95809200	Weak transcription	Fetal Kidney	kidney
24	chr8:95794800-95809400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr8:95794800-95809400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:95794800-95809400	Weak transcription	HMEC	breast
27	chr8:95794800-95809400	Weak transcription	NH-A	brain
28	chr8:95795800-95808800	Weak transcription	Fetal Brain Female	brain
29	chr8:95797800-95809200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:95798000-95809600	Weak transcription	Adipose Nuclei	Adipose
31	chr8:95798000-95810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:95798000-95810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:95799200-95814400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:95799400-95809400	Weak transcription	Fetal Stomach	stomach
35	chr8:95799600-95809200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:95799600-95809400	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:95799600-95809600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:95799800-95809800	Weak transcription	Ovary	ovary
39	chr8:95799800-95811400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:95801400-95809200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:95801800-95809400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:95801800-95809600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr8:95802200-95809000	Weak transcription	Osteobl	bone
44	chr8:95802200-95809600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr8:95802400-95809600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:95802400-95809600	Weak transcription	Fetal Intestine Large	intestine
47	chr8:95802400-95809600	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:95802600-95809200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr8:95802600-95809200	Weak transcription	NHDF-Ad	bronchial
50	chr8:95802600-95809400	Weak transcription	Fetal Lung	lung

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