Variant report

Variant	rs9643353
Chromosome Location	chr8:95957063-95957064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:95956052-95957263	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:95957041-95957169	ProgFib	skin:	n/a	n/a
3	POLR2A	chr8:95956220-95957096	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:95956337-95957146	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr8:95956476-95957291	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:95956850-95957168	K562	blood:	n/a	n/a
7	POLR2A	chr8:95956286-95957078	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95956652..95964127-chr8:96035798..96039465,14	MCF-7	breast:
2	chr8:95955999..95958092-chr8:96009407..96011189,2	MCF-7	breast:
3	chr8:95956432..95958307-chr8:96035896..96038876,2	MCF-7	breast:

Variant related genes	Relation type
TP53INP1	TF binding region
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10081596	0.93[ASN][1000 genomes]
rs10086284	0.85[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];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	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1011795	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1011796	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];0.99[ASN][1000 genomes]
rs10956929	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs10956930	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10956931	0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs10956932	0.84[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11784717	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs12545596	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs12548367	0.82[EUR][1000 genomes]
rs12548999	0.85[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs12549003	0.85[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12679044	0.85[CHB][hapmap]
rs13255935	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs13257021	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs1349763	0.93[ASN][1000 genomes]
rs1453377	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs1453379	0.85[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16893776	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs2013597	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2084968	0.91[ASN][1000 genomes]
rs2123647	0.84[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs2278891	0.82[CEU][hapmap];0.83[MEX][hapmap]
rs2904893	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2945554	0.84[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2956210	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2956216	0.86[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs3019175	0.84[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34293080	0.82[EUR][1000 genomes]
rs3802193	0.85[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4570121	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4734293	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4734294	0.92[ASN][1000 genomes]
rs4735328	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs4735329	0.82[EUR][1000 genomes]
rs4735330	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4735331	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4735332	0.84[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4735334	0.83[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];0.85[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[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	0.87[JPT][hapmap]
rs550418	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs550564	0.82[GIH][hapmap];0.82[JPT][hapmap]
rs551270	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs6471499	0.82[CEU][hapmap];0.92[CHB][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs6471500	0.82[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap]
rs6471503	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs683832	0.82[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][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];0.84[MEX][hapmap]
rs6987400	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6993278	0.94[ASN][1000 genomes]
rs7001535	0.85[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7005317	0.85[CHB][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap]
rs7007935	0.90[ASN][1000 genomes]
rs7015841	0.84[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7017487	0.84[CEU][hapmap];0.85[CHB][hapmap];0.91[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs726816	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs7820818	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs7823366	0.87[ASN][1000 genomes]
rs7827478	0.85[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7835379	0.92[ASN][1000 genomes]
rs7845219	0.85[CHB][hapmap]
rs896850	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896851	0.91[CEU][hapmap];0.92[CHB][hapmap];0.88[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs896854	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs9643350	0.83[EUR][1000 genomes]
rs9643351	0.82[EUR][1000 genomes]
rs9643352	0.80[AMR][1000 genomes];0.83[EUR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9643353	TP53INP1	cis	multi-tissue	Pritchard
rs9643353	TP53INP1	cis	parietal	SCAN

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	chr8:95947200-95957400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:95951000-95957800	Weak transcription	Fetal Brain Male	brain
4	chr8:95952600-95958200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:95952600-95959400	Weak transcription	NHEK	skin
6	chr8:95952600-95959600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:95952600-95959800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:95953000-95959800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr8:95953200-95957400	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr8:95953200-95957600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr8:95953200-95957600	Weak transcription	HMEC	breast
12	chr8:95953200-95957800	Enhancers	Small Intestine	intestine
13	chr8:95953200-95957800	Weak transcription	Dnd41	blood
14	chr8:95953200-95958000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr8:95953200-95959000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:95953200-95959000	Genic enhancers	Fetal Thymus	thymus
17	chr8:95953200-95959200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:95953200-95959200	Weak transcription	HSMMtube	muscle
19	chr8:95953200-95960000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:95953400-95957800	Weak transcription	HUVEC	blood vessel
21	chr8:95953400-95959600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:95953400-95960000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr8:95953600-95957200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:95953600-95959000	Weak transcription	NH-A	brain
25	chr8:95953600-95960000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:95953800-95959000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr8:95953800-95960000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr8:95954000-95957600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:95954200-95957200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr8:95954200-95957200	Enhancers	Gastric	stomach
31	chr8:95954200-95958400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr8:95954200-95958600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr8:95954200-95959000	Enhancers	Left Ventricle	heart
34	chr8:95954600-95958200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr8:95954600-95959800	Enhancers	Brain Anterior Caudate	brain
36	chr8:95954800-95957600	Weak transcription	Osteobl	bone
37	chr8:95955000-95958000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:95955000-95958600	Genic enhancers	Primary B cells from peripheral blood	blood
39	chr8:95955200-95958200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr8:95955200-95958400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr8:95955200-95958400	Enhancers	Fetal Lung	lung
42	chr8:95955200-95958800	Enhancers	Stomach Mucosa	stomach
43	chr8:95955200-95959800	Enhancers	Fetal Heart	heart
44	chr8:95955800-95957200	Enhancers	Brain Angular Gyrus	brain
45	chr8:95955800-95957200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr8:95955800-95957400	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:95955800-95959400	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr8:95956000-95957200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:95956000-95957400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:95956000-95957400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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