Variant report

Variant	rs4731439
Chromosome Location	chr7:127925990-127925991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10230082	0.87[AFR][1000 genomes]
rs10233310	0.83[EUR][1000 genomes]
rs10245775	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10251133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1026189	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11972879	0.91[EUR][1000 genomes]
rs1466145	1.00[EUR][1000 genomes]
rs16871983	1.00[EUR][1000 genomes]
rs17151951	1.00[EUR][1000 genomes]
rs17151956	0.90[EUR][1000 genomes]
rs17151961	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151967	1.00[EUR][1000 genomes]
rs17151977	0.81[EUR][1000 genomes]
rs2122628	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2402886	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28437662	0.81[EUR][1000 genomes]
rs41281734	0.81[EUR][1000 genomes]
rs57006226	0.90[EUR][1000 genomes]
rs57272364	0.90[EUR][1000 genomes]
rs57403126	1.00[EUR][1000 genomes]
rs59168227	0.81[EUR][1000 genomes]
rs60525457	0.81[EUR][1000 genomes]
rs61733108	0.81[EUR][1000 genomes]
rs6943621	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs6952457	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7778230	1.00[EUR][1000 genomes]
rs7778254	0.90[EUR][1000 genomes]
rs921399	0.82[AMR][1000 genomes];1.00[EUR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv437031	chr7:127923778-127939461	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv1802808	chr7:127925827-127928589	Weak transcription ZNF genes & repeats Strong transcription Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127917000-127945600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:127917200-127943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr7:127919800-127926400	Weak transcription	Liver	Liver
4	chr7:127920200-127945200	Weak transcription	Right Ventricle	heart
5	chr7:127920600-127938800	Weak transcription	Right Atrium	heart
6	chr7:127920600-127941000	Weak transcription	Primary T cells from cord blood	blood
7	chr7:127920800-127931000	Weak transcription	Fetal Lung	lung
8	chr7:127921000-127926000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr7:127921400-127939000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:127921600-127928400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:127921800-127926000	Weak transcription	Fetal Stomach	stomach
12	chr7:127921800-127944400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:127922000-127926200	Weak transcription	HSMM	muscle
14	chr7:127922000-127940600	Weak transcription	Brain Anterior Caudate	brain
15	chr7:127922000-127942000	Weak transcription	Brain Angular Gyrus	brain
16	chr7:127922000-127944400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:127922200-127926000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:127922200-127926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:127922200-127926600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:127922200-127927000	Weak transcription	Brain Substantia Nigra	brain
21	chr7:127922200-127930800	Weak transcription	Brain Germinal Matrix	brain
22	chr7:127922200-127932600	Weak transcription	Fetal Intestine Small	intestine
23	chr7:127922200-127942000	Weak transcription	Left Ventricle	heart
24	chr7:127922200-127942200	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr7:127922200-127943000	Weak transcription	Dnd41	blood
26	chr7:127922200-127943200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr7:127922400-127932000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:127922400-127942000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:127923200-127929200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:127923800-127928400	Weak transcription	HSMMtube	muscle
31	chr7:127923800-127943200	Weak transcription	Pancreas	Pancrea
32	chr7:127924000-127926000	Weak transcription	Aorta	Aorta
33	chr7:127924000-127940000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:127924200-127926200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:127924200-127943800	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:127924400-127929200	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:127924400-127942200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:127924400-127942200	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr7:127924600-127939000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr7:127924600-127940600	Weak transcription	A549	lung
41	chr7:127924600-127950000	Weak transcription	Psoas Muscle	Psoas
42	chr7:127925200-127927000	Strong transcription	Ovary	ovary
43	chr7:127925400-127926600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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