Variant report

Variant	rs28764931
Chromosome Location	chr7:121743463-121743464
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10246405	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1147491	0.90[ASN][1000 genomes]
rs17144057	0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs3213699	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59001471	0.90[ASN][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	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:121715400-121752000	Weak transcription	NH-A	brain
4	chr7:121716000-121772000	Weak transcription	Osteobl	bone
5	chr7:121716000-121775600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:121716200-121758200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:121717800-121744400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:121718000-121746800	Weak transcription	Brain Anterior Caudate	brain
9	chr7:121718000-121754200	Weak transcription	Placenta	Placenta
10	chr7:121718000-121754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:121718000-121754800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:121718000-121756200	Weak transcription	Pancreas	Pancrea
13	chr7:121718200-121755000	Weak transcription	NHDF-Ad	bronchial
14	chr7:121719200-121751800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:121719400-121747400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:121719800-121747200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:121722000-121755000	Weak transcription	HUVEC	blood vessel
18	chr7:121725800-121758400	Weak transcription	HSMMtube	muscle
19	chr7:121726000-121774400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:121726000-121776000	Weak transcription	Fetal Stomach	stomach
21	chr7:121726200-121744400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:121730000-121744400	Weak transcription	Lung	lung
23	chr7:121730400-121749400	Weak transcription	Fetal Kidney	kidney
24	chr7:121730400-121754600	Weak transcription	Aorta	Aorta
25	chr7:121731800-121744400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:121731800-121744800	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr7:121731800-121753600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:121731800-121770400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:121732000-121773600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr7:121734000-121749400	Weak transcription	NHEK	skin
31	chr7:121739800-121760400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:121741000-121743800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:121742200-121744600	ZNF genes & repeats	Fetal Lung	lung
34	chr7:121742200-121744800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
35	chr7:121742200-121747200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr7:121742200-121749800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr7:121742200-121753400	Weak transcription	HSMM	muscle
38	chr7:121742400-121743600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:121742400-121743800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
40	chr7:121742600-121744400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:121742600-121744400	Weak transcription	Ovary	ovary
42	chr7:121742600-121745800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr7:121742600-121747000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:121742600-121747200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:121742600-121747400	Weak transcription	Left Ventricle	heart
46	chr7:121742600-121754200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr7:121742600-121756200	Weak transcription	Right Ventricle	heart
48	chr7:121742800-121744800	ZNF genes & repeats	Liver	Liver
49	chr7:121743000-121744400	ZNF genes & repeats	Fetal Heart	heart
50	chr7:121743000-121744600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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