Variant report

Variant	rs10954047
Chromosome Location	chr7:79735029-79735030
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10155854	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1018932	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1018933	0.89[EUR][1000 genomes]
rs10248649	0.99[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10254386	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10273160	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10954046	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12531497	0.88[EUR][1000 genomes]
rs1962777	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2189340	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2366235	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696126	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2886607	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728008	0.84[EUR][1000 genomes]
rs6466947	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945349	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952190	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952956	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959063	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973993	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6974765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979946	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7810958	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1027494	chr7:79693976-79760332	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79726400-79735400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:79733200-79741200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr7:79733400-79736400	Enhancers	Primary T cells from cord blood	blood
4	chr7:79734400-79736800	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:79734400-79737800	Enhancers	Dnd41	blood
6	chr7:79734600-79735200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr7:79734600-79735600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr7:79734600-79735800	Enhancers	HUVEC	blood vessel
9	chr7:79734600-79736400	Enhancers	Adipose Nuclei	Adipose
10	chr7:79734600-79736600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:79734600-79737000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:79734600-79737000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:79734600-79737200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr7:79734800-79735200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:79734800-79735200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:79734800-79735200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr7:79734800-79735200	Enhancers	Colonic Mucosa	Colon
18	chr7:79734800-79735200	Enhancers	Left Ventricle	heart
19	chr7:79734800-79735200	Enhancers	Lung	lung
20	chr7:79734800-79735400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr7:79734800-79735400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr7:79734800-79735800	Enhancers	Fetal Intestine Small	intestine
23	chr7:79734800-79736400	Enhancers	Fetal Thymus	thymus
24	chr7:79734800-79736800	Enhancers	Fetal Intestine Large	intestine
25	chr7:79734800-79737400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr7:79734800-79737600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr7:79735000-79735200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:79735000-79735200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:79735000-79735400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:79735000-79735400	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr7:79735000-79735400	Enhancers	Fetal Lung	lung
32	chr7:79735000-79736200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:79735000-79737000	Enhancers	Brain Substantia Nigra	brain
34	chr7:79735000-79737600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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