Variant report

Variant	rs28830282
Chromosome Location	chr7:112558297-112558298
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10236439	0.89[AFR][1000 genomes]
rs10241725	0.83[AFR][1000 genomes]
rs10269437	0.89[AFR][1000 genomes]
rs10280036	0.89[AFR][1000 genomes]
rs10280117	0.89[AFR][1000 genomes]
rs28378392	0.89[AFR][1000 genomes]
rs59569539	0.89[AFR][1000 genomes]
rs73718131	0.89[AFR][1000 genomes]
rs73718132	0.89[AFR][1000 genomes]
rs73718133	0.89[AFR][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	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	105 gene(s)	inside rSNPs	diseases
2	esv1794529	chr7:112400060-112588376	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2754368	chr7:112483049-112588049	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2758131	chr7:112492127-112768628	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2759556	chr7:112492127-112768628	Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112522200-112571000	Weak transcription	Thymus	Thymus
2	chr7:112522400-112558400	Weak transcription	Gastric	stomach
3	chr7:112522400-112558800	Weak transcription	Lung	lung
4	chr7:112530400-112576600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:112538800-112565600	Weak transcription	Pancreas	Pancrea
6	chr7:112539000-112559400	Weak transcription	Fetal Stomach	stomach
7	chr7:112541400-112578800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:112546400-112566000	Weak transcription	Right Ventricle	heart
9	chr7:112549200-112569000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:112549200-112571000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:112549400-112574200	Weak transcription	Fetal Brain Female	brain
12	chr7:112549600-112565800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:112550400-112560200	Weak transcription	HUVEC	blood vessel
14	chr7:112551400-112566200	Weak transcription	Aorta	Aorta
15	chr7:112551600-112558400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:112551600-112558400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:112551600-112558400	Weak transcription	Fetal Kidney	kidney
18	chr7:112551600-112558400	Weak transcription	Osteobl	bone
19	chr7:112551600-112559400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr7:112551600-112559400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr7:112551600-112563800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:112551600-112565800	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:112551600-112571000	Weak transcription	HSMM	muscle
24	chr7:112551600-112575600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr7:112551600-112575800	Weak transcription	GM12878-XiMat	blood
26	chr7:112551600-112576200	Weak transcription	Ovary	ovary
27	chr7:112551600-112577400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:112551600-112578600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr7:112551600-112579400	Weak transcription	Spleen	Spleen
30	chr7:112551800-112564400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:112553800-112578800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:112554000-112560200	Weak transcription	Fetal Lung	lung
33	chr7:112554000-112566000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:112554000-112570200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:112554000-112577200	Weak transcription	Primary B cells from cord blood	blood
36	chr7:112554200-112569600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:112555400-112560200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:112555400-112561800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:112555400-112562000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:112555400-112570200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:112555400-112570600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:112555400-112578000	Weak transcription	Adipose Nuclei	Adipose
43	chr7:112555600-112561600	Weak transcription	Primary T cells from cord blood	blood
44	chr7:112555600-112569800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:112555600-112571000	Weak transcription	Dnd41	blood
46	chr7:112555600-112572600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr7:112555800-112560200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:112555800-112567600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:112556000-112562000	Weak transcription	Brain Germinal Matrix	brain
50	chr7:112556000-112573600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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