Variant report

Variant	rs726816
Chromosome Location	chr8:95968413-95968414
allele	G/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	EP300	chr8:95968393-95968768	K562	blood:	n/a	n/a
2	ZNF143	chr8:95968377-95968496	K562	blood:	n/a	n/a
3	RCOR1	chr8:95968237-95969107	K562	blood:	n/a	n/a
4	STAT3	chr8:95968399-95968576	MCF10A-Er-Src	breast:	n/a	n/a
5	MAFK	chr8:95968080-95968416	HepG2	liver:	n/a	chr8:95968238-95968258 chr8:95968243-95968258
6	JUND	chr8:95968326-95968730	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95960036..95962900-chr8:95966783..95969994,3	MCF-7	breast:
2	chr8:95966010..95969504-chr8:96000231..96003334,3	MCF-7	breast:

Variant related genes	Relation type
NDUFAF6	TF binding region
ENSG00000253878	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10081474	0.82[ASN][1000 genomes]
rs10086284	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs10097617	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10098778	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10099059	0.90[ASN][1000 genomes]
rs10099941	0.93[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs10104909	0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10108430	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1011795	0.89[JPT][hapmap]
rs1011796	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs10429294	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10429443	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10808671	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956929	0.92[CHB][hapmap]
rs10956931	0.92[CHB][hapmap]
rs10956932	0.92[CHB][hapmap]
rs10956933	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11784717	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs12386945	0.90[ASN][1000 genomes]
rs12549003	0.92[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap]
rs12679044	0.93[CHB][hapmap];0.84[JPT][hapmap]
rs1320164	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13248607	0.90[ASN][1000 genomes]
rs13255935	0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13257021	0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13266313	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13270641	0.90[ASN][1000 genomes]
rs13274945	0.90[ASN][1000 genomes]
rs13278601	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13281625	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13281709	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1349763	1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1453377	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1453379	0.92[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs16893776	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2011566	0.90[ASN][1000 genomes]
rs2123647	0.92[CHB][hapmap]
rs2278891	0.84[CHB][hapmap]
rs2340586	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28560301	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28591375	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28716845	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2879813	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2945554	0.92[CHB][hapmap]
rs2956210	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs2956216	0.92[CHB][hapmap]
rs3802193	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs4582532	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4734291	0.83[JPT][hapmap]
rs4735328	0.92[CHB][hapmap]
rs4735333	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4735334	0.92[CHB][hapmap];0.88[JPT][hapmap]
rs4735335	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735336	0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4735337	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735338	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735339	0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735340	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs550564	0.84[CHB][hapmap]
rs551270	0.92[CHB][hapmap]
rs61663478	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6471499	0.92[CHB][hapmap]
rs6471500	0.92[CHB][hapmap]
rs6471502	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6471503	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs683832	0.84[CHB][hapmap]
rs6982393	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6983948	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6984240	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6987256	0.92[CHB][hapmap]
rs6987752	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6993278	0.86[AFR][1000 genomes]
rs7003387	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7005317	0.92[CHB][hapmap]
rs7015841	0.92[CHB][hapmap]
rs7017487	0.92[CHB][hapmap]
rs7815762	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7819800	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7823059	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7827478	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs7845219	0.92[CHB][hapmap];0.83[JPT][hapmap];0.80[EUR][1000 genomes]
rs896846	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs896847	1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs896851	0.86[CHB][hapmap]
rs896852	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896853	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896854	0.92[CHB][hapmap];0.94[JPT][hapmap]
rs896855	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9297949	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9643353	0.92[CHB][hapmap];0.89[JPT][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	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	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
5	nsv818645	chr8:95967838-95974373	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs726816	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL
rs726816	TP53INP1	cis	Esophagus Muscularis	GTEx

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95962200-95977800	Weak transcription	Hela-S3	cervix
2	chr8:95962400-95971400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr8:95962600-95970600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr8:95962800-95969400	Weak transcription	Dnd41	blood
5	chr8:95962800-95972400	Weak transcription	Aorta	Aorta
6	chr8:95962800-95974200	Weak transcription	Gastric	stomach
7	chr8:95962800-95975800	Weak transcription	Right Ventricle	heart
8	chr8:95962800-95977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr8:95962800-95979800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:95962800-95980200	Weak transcription	Ovary	ovary
11	chr8:95962800-95980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:95963000-95970000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:95963000-95971200	Weak transcription	Fetal Intestine Small	intestine
14	chr8:95963000-95971400	Weak transcription	Primary B cells from cord blood	blood
15	chr8:95963000-95975800	Weak transcription	Fetal Stomach	stomach
16	chr8:95963000-95980400	Weak transcription	HSMM	muscle
17	chr8:95963400-95970200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:95963400-95974200	Weak transcription	Psoas Muscle	Psoas
19	chr8:95963600-95970000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr8:95963600-95970000	Weak transcription	Left Ventricle	heart
21	chr8:95963600-95971400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr8:95963600-95972400	Weak transcription	NHLF	lung
23	chr8:95963600-95973800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:95963600-95974000	Weak transcription	Esophagus	oesophagus
25	chr8:95963600-95977800	Weak transcription	HUVEC	blood vessel
26	chr8:95963600-95979600	Weak transcription	A549	lung
27	chr8:95963800-95970800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:95963800-95973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr8:95963800-95979400	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:95964000-95970200	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:95964000-95971000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:95964200-95969400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:95964200-95970000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:95964200-95970200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:95964200-95970400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:95964200-95971400	Weak transcription	Fetal Intestine Large	intestine
37	chr8:95964400-95969200	Weak transcription	Fetal Heart	heart
38	chr8:95964400-95969600	Weak transcription	Right Atrium	heart
39	chr8:95964400-95971000	Weak transcription	HMEC	breast
40	chr8:95964400-95972000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr8:95964400-95973600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:95964400-95973800	Weak transcription	Osteobl	bone
43	chr8:95964400-95976000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr8:95964400-95980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:95964600-95970200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr8:95964600-95970200	Weak transcription	Thymus	Thymus
48	chr8:95964600-95970400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:95964600-95970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:95964600-95971000	Weak transcription	H9 Cell Line	embryonic stem cell

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