Variant report

Variant	rs11784717
Chromosome Location	chr8:95955745-95955746
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10081596	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10086284	0.85[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10098778	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10099941	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs10104909	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs10112447	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1011795	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1011796	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10956929	0.86[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap]
rs10956930	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs10956931	0.83[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap];0.83[EUR][1000 genomes]
rs10956932	0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12545596	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs12548999	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs12549003	0.85[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550765	0.82[CEU][hapmap]
rs12679044	0.85[CHB][hapmap]
rs13255935	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs13257021	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1349763	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1453377	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1453379	0.85[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16893776	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2013597	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2084968	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2123647	0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap]
rs2278891	0.86[CEU][hapmap];0.80[TSI][hapmap]
rs2904893	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945554	0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap]
rs2956210	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2956216	0.91[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap]
rs3019175	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3802193	0.85[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4734293	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734294	0.92[ASN][1000 genomes]
rs4735328	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap]
rs4735331	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4735332	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs4735334	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735336	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs4735337	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs4735339	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs477653	0.82[CEU][hapmap];0.87[JPT][hapmap]
rs550418	0.82[JPT][hapmap]
rs550564	0.82[CEU][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap]
rs551270	0.86[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.83[TSI][hapmap]
rs6471497	0.82[CEU][hapmap]
rs6471499	0.86[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap]
rs6471500	0.86[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap]
rs6471501	0.82[EUR][1000 genomes]
rs6471503	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs683832	0.82[CEU][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap]
rs6982393	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs6983000	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs6987256	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs6993278	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7001535	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7005317	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[TSI][hapmap]
rs7007935	0.90[ASN][1000 genomes]
rs7015841	0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap]
rs7017487	0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap]
rs726816	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs7820818	0.83[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs7823366	0.87[ASN][1000 genomes]
rs7827478	0.85[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7835379	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7845219	0.85[CHB][hapmap]
rs896850	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896851	0.87[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896854	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs9643353	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	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
4	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv508520	chr8:95939373-96140068	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11784717	TP53INP1	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95933400-95960600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:95935200-95956400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:95936400-95956800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95937000-95956800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:95937200-95956000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:95944600-95957000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr8:95946800-95956000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:95947000-95956000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:95947200-95957400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:95947400-95956400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr8:95947400-95956400	Strong transcription	Fetal Muscle Leg	muscle
12	chr8:95947600-95956200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:95947800-95956000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:95951000-95957800	Weak transcription	Fetal Brain Male	brain
15	chr8:95952400-95955800	Weak transcription	Brain Angular Gyrus	brain
16	chr8:95952400-95956200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:95952400-95956400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:95952600-95956200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr8:95952600-95956200	Weak transcription	HepG2	liver
20	chr8:95952600-95956400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:95952600-95956400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr8:95952600-95956800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:95952600-95958200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr8:95952600-95959400	Weak transcription	NHEK	skin
25	chr8:95952600-95959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:95952600-95959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:95953000-95956400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:95953000-95959800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr8:95953200-95955800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:95953200-95956400	Weak transcription	Aorta	Aorta
31	chr8:95953200-95956400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr8:95953200-95956400	Weak transcription	Ovary	ovary
33	chr8:95953200-95956600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr8:95953200-95956800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr8:95953200-95957000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:95953200-95957000	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr8:95953200-95957400	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr8:95953200-95957600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:95953200-95957600	Weak transcription	HMEC	breast
40	chr8:95953200-95957800	Enhancers	Small Intestine	intestine
41	chr8:95953200-95957800	Weak transcription	Dnd41	blood
42	chr8:95953200-95958000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr8:95953200-95959000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr8:95953200-95959000	Genic enhancers	Fetal Thymus	thymus
45	chr8:95953200-95959200	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr8:95953200-95959200	Weak transcription	HSMMtube	muscle
47	chr8:95953200-95960000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:95953400-95955800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:95953400-95955800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:95953400-95955800	Weak transcription	Monocytes-CD14+_RO01746	blood

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