Variant report

Variant	rs12673308
Chromosome Location	chr7:65631361-65631362
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65630028..65632424-chr7:65633980..65636859,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10950024	0.90[AFR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10950025	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10950027	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10950028	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs10950029	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11760805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11767833	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12666485	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12671834	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs160636	0.80[ASN][1000 genomes]
rs160640	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs160641	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs160645	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs160647	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs17138089	0.88[ASN][1000 genomes]
rs17138149	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs221986	0.88[ASN][1000 genomes]
rs2451953	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2460427	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2465121	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28815324	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2946580	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs313817	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs313818	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313823	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs313828	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs313830	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs316305	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316306	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316316	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316320	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316323	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs316324	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs316328	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs400767	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4441996	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718325	0.87[ASN][1000 genomes]
rs6460276	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6460281	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67302640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67397473	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67688847	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67775320	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6960870	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73136346	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73142233	0.88[ASN][1000 genomes]
rs73142245	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73142265	0.81[ASN][1000 genomes]
rs73376394	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73376401	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73378304	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7782212	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7783727	0.82[ASN][1000 genomes]
rs7786728	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7786735	0.86[ASN][1000 genomes]
rs7787063	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	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
3	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv971172	chr7:65616238-65653268	Weak transcription Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs12673308	GTF2IRD1P1	cis	Thyroid	GTEx
rs12673308	RNU6-96P	cis	Thyroid	GTEx
rs12673308	GS1-124K5.4	cis	Stomach	GTEx
rs12673308	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs12673308	GS1-124K5.11	cis	Thyroid	GTEx
rs12673308	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs12673308	GS1-124K5.4	cis	Artery Aorta	GTEx

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65612000-65635400	Weak transcription	Fetal Kidney	kidney
2	chr7:65617600-65632400	Weak transcription	Hela-S3	cervix
3	chr7:65618200-65632400	Weak transcription	HUVEC	blood vessel
4	chr7:65618200-65635400	Weak transcription	Esophagus	oesophagus
5	chr7:65618200-65635600	Weak transcription	Right Ventricle	heart
6	chr7:65619000-65632400	Weak transcription	NHLF	lung
7	chr7:65619000-65632800	Weak transcription	Gastric	stomach
8	chr7:65619000-65635200	Weak transcription	Spleen	Spleen
9	chr7:65619000-65635400	Weak transcription	Pancreas	Pancrea
10	chr7:65619000-65635600	Weak transcription	HMEC	breast
11	chr7:65619000-65635800	Weak transcription	Colon Smooth Muscle	Colon
12	chr7:65619400-65632400	Weak transcription	NHDF-Ad	bronchial
13	chr7:65620800-65635400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:65622400-65632800	Weak transcription	Brain Substantia Nigra	brain
15	chr7:65622600-65635600	Weak transcription	Stomach Mucosa	stomach
16	chr7:65622800-65632600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr7:65623600-65632400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:65623600-65633000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:65623600-65635400	Weak transcription	Colonic Mucosa	Colon
20	chr7:65623600-65635600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:65623800-65632600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:65623800-65632600	Weak transcription	A549	lung
23	chr7:65623800-65632800	Weak transcription	NH-A	brain
24	chr7:65623800-65632800	Weak transcription	Osteobl	bone
25	chr7:65623800-65633000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:65623800-65633000	Weak transcription	K562	blood
27	chr7:65623800-65635400	Weak transcription	Adipose Nuclei	Adipose
28	chr7:65623800-65635400	Weak transcription	Lung	lung
29	chr7:65623800-65635400	Weak transcription	Ovary	ovary
30	chr7:65623800-65635400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr7:65623800-65635400	Weak transcription	HSMMtube	muscle
32	chr7:65624000-65632800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:65624000-65634800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:65624000-65634800	Weak transcription	Left Ventricle	heart
35	chr7:65624400-65632600	Weak transcription	Fetal Lung	lung
36	chr7:65624400-65635200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:65624400-65635400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:65624600-65635600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:65625600-65632400	Weak transcription	Fetal Stomach	stomach
40	chr7:65625800-65632800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:65625800-65635400	Weak transcription	Fetal Muscle Leg	muscle
42	chr7:65626400-65637600	Weak transcription	Fetal Brain Female	brain
43	chr7:65628200-65632800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:65628600-65633000	Weak transcription	HepG2	liver

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