Variant report

Variant	rs12671152
Chromosome Location	chr7:65776127-65776128
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65767632..65769352-chr7:65774697..65777557,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1065265	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10950035	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10950036	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11766183	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11767262	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11769702	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11770063	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12667200	0.86[ASN][1000 genomes]
rs12668269	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12670811	0.85[ASN][1000 genomes]
rs1547529	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17138149	0.84[AMR][1000 genomes]
rs17138156	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1909508	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2173571	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2279757	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2420456	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3936065	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718335	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4718348	0.80[EUR][1000 genomes]
rs6460281	0.80[AMR][1000 genomes]
rs66594357	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6969224	0.85[ASN][1000 genomes]
rs6970498	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6979636	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73142245	0.84[AMR][1000 genomes]
rs73142265	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73146609	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73148639	0.83[ASN][1000 genomes]
rs7783889	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7785117	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7786735	0.84[AMR][1000 genomes]
rs7801332	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7811204	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12671152	GS1-124K5.4	cis	Stomach	GTEx
rs12671152	GS1-124K5.11	cis	Thyroid	GTEx
rs12671152	GTF2IRD1P1	cis	Thyroid	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65763000-65786200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:65766400-65777600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:65766800-65780200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:65768000-65780200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:65768200-65780200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:65769400-65776200	Weak transcription	Lung	lung
7	chr7:65769400-65779600	Weak transcription	Fetal Stomach	stomach
8	chr7:65771400-65784000	Weak transcription	Fetal Lung	lung
9	chr7:65771600-65776400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:65771600-65777000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:65771600-65783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:65772800-65780200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:65773200-65780200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:65773200-65780400	Weak transcription	NHDF-Ad	bronchial
15	chr7:65773400-65777600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr7:65773400-65791000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:65773600-65776200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr7:65773600-65780000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:65773600-65780200	Weak transcription	Esophagus	oesophagus
20	chr7:65773600-65786200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:65773600-65791000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:65773800-65786000	Weak transcription	HMEC	breast
23	chr7:65773800-65791000	Weak transcription	NH-A	brain
24	chr7:65774000-65776400	Enhancers	Spleen	Spleen
25	chr7:65774600-65780200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:65775600-65776200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:65775600-65776600	Weak transcription	HepG2	liver
28	chr7:65775600-65782000	Weak transcription	HSMM	muscle
29	chr7:65775600-65786200	Weak transcription	Gastric	stomach
30	chr7:65775600-65795800	Weak transcription	Ovary	ovary
31	chr7:65775800-65784400	Weak transcription	Liver	Liver
32	chr7:65776000-65780200	Weak transcription	Pancreas	Pancrea

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