Variant report

Variant	rs73139974
Chromosome Location	chr7:66279881-66279882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10950047	0.81[AMR][1000 genomes]
rs10950054	0.81[ASN][1000 genomes]
rs11766583	0.84[ASN][1000 genomes]
rs12666079	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12668022	0.87[ASN][1000 genomes]
rs1638728	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17747939	0.89[ASN][1000 genomes]
rs1796219	0.85[AFR][1000 genomes]
rs1922722	0.81[ASN][1000 genomes]
rs2533284	0.81[EUR][1000 genomes]
rs2901267	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35244862	0.89[ASN][1000 genomes]
rs3800815	0.98[ASN][1000 genomes]
rs4717322	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4718385	0.85[AFR][1000 genomes]
rs4718410	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6947441	0.81[AMR][1000 genomes]
rs6960230	0.84[ASN][1000 genomes]
rs6966953	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs6970767	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6974046	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6979167	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73139927	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73377594	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[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	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
2	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv888329	chr7:66234585-66376095	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv981513	chr7:66276464-66291614	Weak transcription Enhancers Strong transcription Genic enhancers	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs73139974	GS1-124K5.11	cis	Thyroid	GTEx
rs73139974	GS1-124K5.4	cis	Artery Aorta	GTEx
rs73139974	GS1-124K5.4	cis	Stomach	GTEx
rs73139974	GTF2IRD1P1	cis	Thyroid	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66261000-66281400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:66275600-66280600	Weak transcription	Brain Anterior Caudate	brain
3	chr7:66275600-66281200	Weak transcription	Right Ventricle	heart
4	chr7:66275800-66280600	Weak transcription	Spleen	Spleen
5	chr7:66276000-66280400	Weak transcription	Pancreas	Pancrea
6	chr7:66276000-66282200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:66276000-66282800	Weak transcription	Brain Germinal Matrix	brain
8	chr7:66276200-66282000	Weak transcription	GM12878-XiMat	blood
9	chr7:66276200-66282200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:66276400-66280600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr7:66276400-66281000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:66276600-66281200	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:66276800-66280000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr7:66276800-66280200	Weak transcription	Fetal Intestine Large	intestine
15	chr7:66276800-66281200	Weak transcription	Fetal Thymus	thymus
16	chr7:66276800-66284800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:66277000-66280000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:66277000-66281200	Weak transcription	HMEC	breast
19	chr7:66277000-66282000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:66277000-66282000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:66277000-66282200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr7:66277200-66280000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr7:66277200-66280600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr7:66277200-66281200	Weak transcription	NHEK	skin
25	chr7:66277200-66282200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:66277200-66282200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:66277400-66281400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr7:66277600-66280000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:66277600-66280000	Weak transcription	Placenta	Placenta
30	chr7:66277600-66280600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:66277600-66281000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:66277800-66280000	Weak transcription	Primary T cells from cord blood	blood
33	chr7:66277800-66280000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:66277800-66280800	Weak transcription	Osteobl	bone
35	chr7:66277800-66284800	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:66277800-66288600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:66278400-66280000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr7:66278400-66280000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:66278400-66280000	Weak transcription	Thymus	Thymus
40	chr7:66278400-66280000	Weak transcription	NHDF-Ad	bronchial
41	chr7:66278400-66280200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:66278400-66281000	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:66278400-66282000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:66278400-66282200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr7:66278400-66282200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:66278400-66282200	Weak transcription	HepG2	liver
47	chr7:66278600-66280200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:66278600-66280200	Weak transcription	HSMM	muscle
49	chr7:66278600-66280200	Weak transcription	NHLF	lung
50	chr7:66278600-66280400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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