Variant report

Variant	rs759056
Chromosome Location	chr7:127562465-127562466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127552176..127555509-chr7:127561260..127564302,3	K562	blood:
2	chr7:127560049..127563219-chr7:127566241..127571212,6	K562	blood:
3	chr7:127557772..127560077-chr7:127562045..127563596,2	K562	blood:
4	chr7:127560028..127563725-chr7:127565459..127568512,4	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10215276	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10251423	0.81[ASN][1000 genomes]
rs10255861	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10260037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1029927	0.81[ASN][1000 genomes]
rs1075206	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1193334	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1193337	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11977012	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1362267	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1362268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1362897	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1419969	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17676908	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17676986	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17718395	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17733988	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1833147	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1860934	0.81[ASN][1000 genomes]
rs325442	0.81[ASN][1000 genomes]
rs325444	0.81[ASN][1000 genomes]
rs325445	0.81[ASN][1000 genomes]
rs325446	0.81[ASN][1000 genomes]
rs325447	0.81[ASN][1000 genomes]
rs325451	0.81[ASN][1000 genomes]
rs3757757	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3757767	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3779529	0.81[ASN][1000 genomes]
rs3779530	0.81[ASN][1000 genomes]
rs3808057	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808058	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808073	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808084	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808087	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808105	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3824000	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4728077	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6948493	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[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6963614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs717944	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs720300	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73234897	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73238074	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7786041	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs887745	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs917831	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs917832	0.81[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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs759056	TPI1P2	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
4	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
6	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
7	chr7:127545000-127569200	Weak transcription	Thymus	Thymus
8	chr7:127545000-127569200	Weak transcription	HSMMtube	muscle
9	chr7:127545800-127569200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:127546000-127566800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:127546200-127569200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:127546400-127567400	Weak transcription	NHDF-Ad	bronchial
13	chr7:127546400-127569200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr7:127546400-127569200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr7:127546400-127569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:127546400-127569200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:127546400-127569200	Weak transcription	Placenta	Placenta
18	chr7:127546400-127569200	Weak transcription	Dnd41	blood
19	chr7:127546800-127569000	Weak transcription	Fetal Thymus	thymus
20	chr7:127546800-127569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:127546800-127569200	Weak transcription	Aorta	Aorta
22	chr7:127546800-127569200	Weak transcription	Lung	lung
23	chr7:127547400-127567000	Weak transcription	Liver	Liver
24	chr7:127547800-127569200	Weak transcription	Primary T cells from cord blood	blood
25	chr7:127547800-127569600	Weak transcription	A549	lung
26	chr7:127548000-127567000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:127548400-127562800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:127549200-127567600	Weak transcription	NH-A	brain
29	chr7:127549800-127567400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:127550000-127568000	Weak transcription	NHEK	skin
31	chr7:127551200-127569400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr7:127551400-127566800	Weak transcription	Small Intestine	intestine
33	chr7:127551400-127569200	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:127551400-127569200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr7:127551600-127569200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:127552400-127569200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:127553400-127567400	Weak transcription	Primary B cells from cord blood	blood
38	chr7:127553400-127569200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:127553600-127567000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:127553600-127567600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:127553800-127569400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr7:127554000-127567000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr7:127554800-127567200	Weak transcription	Fetal Stomach	stomach
44	chr7:127554800-127569000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr7:127555200-127567000	Weak transcription	Fetal Intestine Large	intestine
46	chr7:127555200-127569000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr7:127555400-127569200	Weak transcription	HepG2	liver
48	chr7:127557200-127569200	Weak transcription	Psoas Muscle	Psoas
49	chr7:127558000-127567000	Weak transcription	Fetal Intestine Small	intestine
50	chr7:127558000-127569600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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