Variant report

Variant	rs13240723
Chromosome Location	chr7:128919560-128919561
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10215998	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10235589	1.00[EUR][1000 genomes]
rs10249336	0.83[AFR][1000 genomes]
rs10269495	1.00[EUR][1000 genomes]
rs10281269	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs12533108	1.00[EUR][1000 genomes]
rs1405475	1.00[EUR][1000 genomes]
rs1469554	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1526898	1.00[EUR][1000 genomes]
rs1526899	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs1549788	1.00[EUR][1000 genomes]
rs1609043	1.00[EUR][1000 genomes]
rs1991645	1.00[EUR][1000 genomes]
rs2402946	1.00[EUR][1000 genomes]
rs2402947	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2463096	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2566875	1.00[EUR][1000 genomes]
rs2566881	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs2566882	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694570	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2694575	1.00[EUR][1000 genomes]
rs2694576	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694577	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2694583	0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs2694591	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2718085	1.00[EUR][1000 genomes]
rs2718090	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2718091	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs2718092	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2718097	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs2718099	0.95[AFR][1000 genomes]
rs2718100	1.00[EUR][1000 genomes]
rs28399138	1.00[EUR][1000 genomes]
rs28864519	1.00[EUR][1000 genomes]
rs4731567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467234	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs6467236	1.00[EUR][1000 genomes]
rs6467239	0.83[AFR][1000 genomes]
rs6949882	1.00[EUR][1000 genomes]
rs6950279	0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs9641847	1.00[EUR][1000 genomes]
rs9641848	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525482	chr7:128890812-129045191	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv516498	chr7:128901429-129072024	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv3331483	chr7:128918442-129082887	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128898800-128919600	Weak transcription	Right Ventricle	heart
2	chr7:128900000-128925000	Weak transcription	Psoas Muscle	Psoas
3	chr7:128902600-128934000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:128902800-128928600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:128903000-128929200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr7:128903200-128925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:128903400-128931400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr7:128903400-128933800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:128905200-128922800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:128905800-128932200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:128907800-128924400	Weak transcription	Small Intestine	intestine
12	chr7:128909800-128925600	Weak transcription	Left Ventricle	heart
13	chr7:128910200-128924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:128911000-128934400	Weak transcription	Brain Angular Gyrus	brain
15	chr7:128911800-128921400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr7:128911800-128925000	Weak transcription	Adipose Nuclei	Adipose
17	chr7:128911800-128930600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:128912000-128925000	Weak transcription	Brain Substantia Nigra	brain
19	chr7:128912000-128925000	Weak transcription	Ovary	ovary
20	chr7:128912000-128927000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr7:128912200-128925600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:128912200-128947000	Weak transcription	Pancreas	Pancrea
23	chr7:128913200-128940800	Weak transcription	Aorta	Aorta
24	chr7:128913400-128926000	Weak transcription	Fetal Thymus	thymus
25	chr7:128914000-128921600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr7:128914000-128934400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:128914200-128933400	Weak transcription	Primary B cells from cord blood	blood
28	chr7:128914400-128920800	Weak transcription	Dnd41	blood
29	chr7:128914400-128925000	Weak transcription	Brain Anterior Caudate	brain
30	chr7:128914600-128919600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:128914600-128922800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:128914600-128929000	Weak transcription	Primary B cells from peripheral blood	blood
33	chr7:128914800-128922800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr7:128914800-128922800	Weak transcription	Esophagus	oesophagus
35	chr7:128914800-128923800	Weak transcription	Gastric	stomach
36	chr7:128914800-128924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:128914800-128924800	Weak transcription	Fetal Stomach	stomach
38	chr7:128914800-128925000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:128914800-128925000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:128914800-128927200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:128914800-128928200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:128914800-128931200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr7:128914800-128931400	Weak transcription	Fetal Lung	lung
44	chr7:128914800-128932800	Weak transcription	Fetal Intestine Large	intestine
45	chr7:128914800-128934600	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:128914800-128934800	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:128914800-128935000	Weak transcription	Fetal Brain Female	brain
48	chr7:128915000-128922800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:128915000-128924000	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:128915000-128962600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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