Variant report

Variant	rs10106570
Chromosome Location	chr8:92010477-92010478
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:92008926..92011654-chr8:92079455..92081464,2	K562	blood:
2	chr8:92010091..92012204-chr8:92013794..92016223,4	K562	blood:
3	chr8:92005218..92006945-chr8:92010241..92012042,2	MCF-7	breast:
4	chr8:92006828..92011591-chr8:92013462..92016540,5	K562	blood:
5	chr8:92004303..92007415-chr8:92009979..92012206,3	K562	blood:
6	chr8:91996280..91999551-chr8:92008515..92012349,6	K562	blood:
7	chr8:92010182..92012741-chr8:92014101..92015825,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253250	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1002583	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs10108616	0.91[MEX][hapmap]
rs10112439	0.83[MEX][hapmap]
rs1038545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1038546	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1055146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10808632	0.91[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs10808633	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10808634	0.81[EUR][1000 genomes]
rs1125229	0.91[MEX][hapmap]
rs1159962	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1160329	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11780153	1.00[CHB][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12546650	0.92[ASW][hapmap]
rs13276591	0.80[AMR][1000 genomes]
rs1352159	0.87[CEU][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.82[TSI][hapmap]
rs1352160	0.87[CEU][hapmap]
rs1354519	0.91[MEX][hapmap]
rs1354520	0.87[MEX][hapmap]
rs1386107	0.91[MEX][hapmap]
rs1386113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1471847	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1486464	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1486468	0.89[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1504795	0.91[MEX][hapmap]
rs1552397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1825691	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1973282	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1973283	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2019889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2035595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2054805	0.83[MEX][hapmap];0.80[AMR][1000 genomes]
rs2054806	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2101378	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2129260	0.91[MEX][hapmap]
rs2631007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2631011	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2631013	0.81[AMR][1000 genomes]
rs2631015	0.91[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2631018	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631023	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2631025	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2631026	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631029	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2631031	0.89[CEU][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes]
rs2631032	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2677572	0.86[ASN][1000 genomes]
rs2677574	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2677581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2740772	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2740773	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2740774	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2740775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2740776	0.82[AMR][1000 genomes]
rs2740778	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2740779	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2740780	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2740781	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2740784	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2740785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2740788	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[LWK][hapmap];0.96[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2740789	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2740791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2740796	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2740798	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2740801	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2740802	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28404401	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28618232	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28675099	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35972814	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4419777	0.92[ASW][hapmap]
rs4529427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6471261	0.91[MEX][hapmap]
rs7017683	0.80[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap]
rs72664410	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7818155	0.83[AMR][1000 genomes]
rs7818187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7828122	0.87[MEX][hapmap];0.83[AMR][1000 genomes]
rs7829663	0.95[MEX][hapmap]
rs7831333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7832881	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7837376	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs931336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs931337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs978559	0.91[CEU][hapmap]
rs978560	0.91[CEU][hapmap]
rs997898	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs997899	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv891185	chr8:91923776-92056288	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2758623	chr8:91974499-92273724	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	esv2759629	chr8:91974499-92273724	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv1851089	chr8:92006663-92038304	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10106570	TP53INP1	cis	cerebellum	SCAN

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91997800-92026400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr8:91998000-92019800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:91998200-92014000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:91998200-92018800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:91998200-92019800	Weak transcription	Left Ventricle	heart
6	chr8:91998200-92026400	Weak transcription	HMEC	breast
7	chr8:91998200-92026800	Weak transcription	Ovary	ovary
8	chr8:91998200-92027000	Weak transcription	Brain Germinal Matrix	brain
9	chr8:91998200-92028800	Weak transcription	HSMMtube	muscle
10	chr8:91998200-92030200	Weak transcription	Aorta	Aorta
11	chr8:91998200-92030200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:91998400-92011600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr8:91998400-92011600	Weak transcription	Right Ventricle	heart
14	chr8:91998400-92013600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr8:91998400-92014800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:91998400-92020800	Weak transcription	HUVEC	blood vessel
17	chr8:91998400-92025800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:91998400-92025800	Weak transcription	NHLF	lung
19	chr8:91998400-92026400	Weak transcription	NH-A	brain
20	chr8:91998400-92026600	Weak transcription	Psoas Muscle	Psoas
21	chr8:91998400-92028800	Weak transcription	Fetal Brain Male	brain
22	chr8:91998400-92030200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:91998600-92011600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:91998600-92011600	Weak transcription	GM12878-XiMat	blood
25	chr8:91998600-92014800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:91998600-92015800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr8:91998600-92016200	Weak transcription	K562	blood
28	chr8:91998600-92016400	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:91998600-92026400	Weak transcription	Thymus	Thymus
30	chr8:91998600-92027200	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:91998600-92030000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:91998600-92030200	Weak transcription	Fetal Stomach	stomach
33	chr8:91998600-92030200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:91998600-92030400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr8:91998800-92015400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr8:91999600-92014800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr8:92000200-92026600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:92000400-92025800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:92000400-92026800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:92000400-92029000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:92001000-92027400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr8:92001400-92027400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:92001800-92026400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:92002800-92015800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:92003800-92027200	Weak transcription	Fetal Kidney	kidney
46	chr8:92003800-92040200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr8:92004400-92027200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:92004600-92019600	Weak transcription	NHEK	skin
49	chr8:92005200-92019800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr8:92005600-92017400	Weak transcription	Liver	Liver

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