Variant report

Variant	rs6471491
Chromosome Location	chr8:95793022-95793023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10100724	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100860	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11785908	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11996148	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12543525	0.90[ASN][1000 genomes]
rs13249787	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13271653	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13277564	0.84[EUR][1000 genomes]
rs13279429	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs13282508	0.83[EUR][1000 genomes]
rs35769195	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35937656	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236830	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4332100	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4377930	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4377931	0.90[ASN][1000 genomes]
rs4398879	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4448241	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4478541	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4545065	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]
rs4548144	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4548145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734288	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs4735323	1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6415569	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]
rs6415570	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6471488	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471490	0.90[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6471493	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6471494	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6985400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988572	0.92[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6992217	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6996787	0.84[EUR][1000 genomes]
rs6999453	1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7006999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7014120	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs7017149	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7459539	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7824040	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7832492	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837111	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7837249	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7840272	0.93[ASN][1000 genomes]
rs7844431	0.82[YRI][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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6471491	TP53INP1	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95733000-95803800	Weak transcription	Psoas Muscle	Psoas
2	chr8:95733000-95805200	Weak transcription	Colonic Mucosa	Colon
3	chr8:95733200-95805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr8:95733800-95806400	Weak transcription	Fetal Brain Male	brain
6	chr8:95740800-95799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:95752400-95809200	Weak transcription	NHLF	lung
8	chr8:95752600-95793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr8:95752600-95805600	Weak transcription	NHEK	skin
10	chr8:95761800-95803600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:95762200-95793600	Weak transcription	Stomach Mucosa	stomach
12	chr8:95767600-95795000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:95773200-95804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:95773600-95809400	Weak transcription	HSMMtube	muscle
15	chr8:95773800-95802600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:95774000-95798000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:95774800-95799800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr8:95774800-95803200	Weak transcription	Fetal Heart	heart
19	chr8:95776200-95797800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:95776200-95803800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:95777400-95804000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr8:95778600-95802600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:95780800-95808000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:95781200-95800800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:95783400-95798000	Strong transcription	Osteobl	bone
26	chr8:95784200-95801200	Weak transcription	Brain Germinal Matrix	brain
27	chr8:95785000-95793200	Weak transcription	HUVEC	blood vessel
28	chr8:95785000-95793600	Weak transcription	K562	blood
29	chr8:95785000-95794400	Weak transcription	HMEC	breast
30	chr8:95785000-95796200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:95785000-95799400	Weak transcription	Brain Substantia Nigra	brain
32	chr8:95785000-95802400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:95785000-95803800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr8:95785000-95804600	Weak transcription	Right Ventricle	heart
35	chr8:95785000-95809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:95785200-95793800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:95785200-95803200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:95785200-95805000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:95785800-95809200	Weak transcription	Colon Smooth Muscle	Colon
40	chr8:95786200-95803800	Weak transcription	Small Intestine	intestine
41	chr8:95786200-95811600	Weak transcription	Spleen	Spleen
42	chr8:95786200-95812800	Weak transcription	Gastric	stomach
43	chr8:95786400-95809600	Weak transcription	Lung	lung
44	chr8:95786600-95794200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:95786600-95802400	Weak transcription	Esophagus	oesophagus
46	chr8:95786600-95807800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:95786800-95796600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr8:95787400-95793400	Weak transcription	Fetal Brain Female	brain
49	chr8:95787400-95794200	Weak transcription	A549	lung
50	chr8:95788000-95793200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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