Variant report

Variant	rs62468016
Chromosome Location	chr7:107621441-107621442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:107611422..107614415-chr7:107621087..107622646,2	K562	blood:
2	chr7:107610019..107613205-chr7:107619610..107625077,4	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11766582	1.00[AFR][1000 genomes]
rs62468020	1.00[AFR][1000 genomes]
rs73193730	1.00[AFR][1000 genomes]
rs73193751	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831088	chr7:107497100-107693680	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107579400-107636200	Weak transcription	Fetal Brain Male	brain
2	chr7:107593400-107635600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:107600200-107623000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:107600200-107635200	Weak transcription	Brain Anterior Caudate	brain
5	chr7:107607600-107622400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:107607600-107622400	Weak transcription	Brain Germinal Matrix	brain
7	chr7:107607600-107622800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:107608000-107633400	Strong transcription	Fetal Intestine Large	intestine
9	chr7:107608400-107623200	Weak transcription	Stomach Mucosa	stomach
10	chr7:107608600-107634200	Weak transcription	Lung	lung
11	chr7:107609000-107623200	Strong transcription	A549	lung
12	chr7:107612600-107621600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr7:107613600-107623400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:107613600-107623600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:107613600-107630000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:107613800-107623000	Strong transcription	NHLF	lung
17	chr7:107613800-107629200	Weak transcription	Right Atrium	heart
18	chr7:107613800-107629600	Strong transcription	Osteobl	bone
19	chr7:107614000-107622800	Strong transcription	Muscle Satellite Cultured Cells	--
20	chr7:107614000-107623000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr7:107614000-107629600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:107614000-107631000	Strong transcription	NH-A	brain
23	chr7:107614400-107623000	Strong transcription	NHDF-Ad	bronchial
24	chr7:107614600-107635200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:107615000-107622600	Strong transcription	HSMM	muscle
26	chr7:107615000-107631600	Strong transcription	HMEC	breast
27	chr7:107615200-107622200	Strong transcription	Left Ventricle	heart
28	chr7:107615200-107623000	Strong transcription	HepG2	liver
29	chr7:107615200-107634200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:107615400-107629600	Strong transcription	NHEK	skin
31	chr7:107615400-107635200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:107615400-107635400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:107615600-107622600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:107616200-107622200	Weak transcription	Fetal Heart	heart
35	chr7:107616200-107635600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr7:107616400-107623400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:107616400-107631000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:107616400-107635000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:107616400-107635200	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:107616400-107641000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:107616800-107624000	Strong transcription	Fetal Muscle Trunk	muscle
42	chr7:107617000-107634200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:107617400-107626600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:107617400-107634200	Weak transcription	Right Ventricle	heart
45	chr7:107617400-107634400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr7:107617800-107634200	Weak transcription	Spleen	Spleen
47	chr7:107618000-107629000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr7:107618200-107633400	Weak transcription	Ovary	ovary
49	chr7:107618200-107633600	Weak transcription	Gastric	stomach
50	chr7:107618200-107634400	Weak transcription	Aorta	Aorta

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