Variant report

Variant	rs10429443
Chromosome Location	chr8:95971164-95971165
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95961511..95965084-chr8:95968441..95972141,5	K562	blood:
2	chr8:95960008..95964622-chr8:95970124..95974538,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164938	Chromatin interaction
ENSG00000253878	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10081474	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10097617	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10098778	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099059	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10099941	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10104909	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10108430	0.94[ASN][1000 genomes]
rs10429294	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10808671	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956933	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956934	0.83[EUR][1000 genomes]
rs12386945	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549003	0.83[AFR][1000 genomes]
rs1320164	0.94[ASN][1000 genomes]
rs13248607	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255935	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13257021	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13266313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13270641	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13274945	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13278601	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13281709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349763	0.91[AFR][1000 genomes]
rs1453377	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453379	0.91[AFR][1000 genomes]
rs16893776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011566	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2084968	0.81[AFR][1000 genomes]
rs2340586	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28560301	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28591375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2879813	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4582532	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4735333	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735336	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735337	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735338	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4735339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735340	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61663478	0.94[ASN][1000 genomes]
rs6471502	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6471503	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6982393	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983948	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6984240	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6987752	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6993278	0.91[AFR][1000 genomes]
rs7003387	0.94[ASN][1000 genomes]
rs726816	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7815762	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7819800	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7823059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs896846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs896852	0.94[ASN][1000 genomes]
rs896853	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs896855	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9297949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10429443	TP53INP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:98 , 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	chr8:95962800-95972400	Weak transcription	Aorta	Aorta
4	chr8:95962800-95974200	Weak transcription	Gastric	stomach
5	chr8:95962800-95975800	Weak transcription	Right Ventricle	heart
6	chr8:95962800-95977000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:95962800-95979800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr8:95962800-95980200	Weak transcription	Ovary	ovary
9	chr8:95962800-95980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:95963000-95971200	Weak transcription	Fetal Intestine Small	intestine
11	chr8:95963000-95971400	Weak transcription	Primary B cells from cord blood	blood
12	chr8:95963000-95975800	Weak transcription	Fetal Stomach	stomach
13	chr8:95963000-95980400	Weak transcription	HSMM	muscle
14	chr8:95963400-95974200	Weak transcription	Psoas Muscle	Psoas
15	chr8:95963600-95971400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:95963600-95972400	Weak transcription	NHLF	lung
17	chr8:95963600-95973800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:95963600-95974000	Weak transcription	Esophagus	oesophagus
19	chr8:95963600-95977800	Weak transcription	HUVEC	blood vessel
20	chr8:95963600-95979600	Weak transcription	A549	lung
21	chr8:95963800-95973800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:95963800-95979400	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:95964200-95971400	Weak transcription	Fetal Intestine Large	intestine
24	chr8:95964400-95972000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr8:95964400-95973600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr8:95964400-95973800	Weak transcription	Osteobl	bone
27	chr8:95964400-95976000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:95964400-95980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:95964400-96002200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr8:95964600-95971200	Weak transcription	HepG2	liver
31	chr8:95964600-95972000	Weak transcription	Fetal Lung	lung
32	chr8:95964600-95972000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:95964600-95973600	Weak transcription	Lung	lung
34	chr8:95964600-95979400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:95964600-95980200	Weak transcription	Brain Substantia Nigra	brain
36	chr8:95964600-95980600	Weak transcription	Fetal Brain Female	brain
37	chr8:95964600-95992800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr8:95964800-95971200	Weak transcription	Stomach Mucosa	stomach
39	chr8:95964800-95973400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr8:95964800-95977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr8:95964800-95980400	Weak transcription	Brain Anterior Caudate	brain
42	chr8:95964800-95981800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:95964800-95999000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:95964800-95999600	Weak transcription	Brain Hippocampus Middle	brain
45	chr8:95964800-95999600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr8:95965000-95999600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:95966000-95986800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:95966000-95993000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:95966200-95975400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:95968200-95971200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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