Variant report

Variant	rs60873462
Chromosome Location	chr7:79833660-79833661
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10252512	0.83[EUR][1000 genomes]
rs12706672	0.82[EUR][1000 genomes]
rs17147931	0.97[EUR][1000 genomes]
rs2428468	0.82[EUR][1000 genomes]
rs2428470	0.80[EUR][1000 genomes]
rs2428471	0.80[EUR][1000 genomes]
rs2523191	0.80[EUR][1000 genomes]
rs2523193	0.80[EUR][1000 genomes]
rs2523194	0.80[EUR][1000 genomes]
rs2523195	0.80[EUR][1000 genomes]
rs2523196	0.83[EUR][1000 genomes]
rs2714466	0.80[EUR][1000 genomes]
rs4489243	0.92[EUR][1000 genomes]
rs4552840	0.92[EUR][1000 genomes]
rs6467043	0.92[EUR][1000 genomes]
rs6969850	0.82[EUR][1000 genomes]
rs73380507	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380510	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7807610	0.92[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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79801800-79840400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:79807800-79842000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr7:79809600-79847600	Weak transcription	HUVEC	blood vessel
4	chr7:79811600-79845000	Weak transcription	Primary T cells from cord blood	blood
5	chr7:79814200-79842600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:79815000-79848200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:79815000-79850200	Weak transcription	Lung	lung
8	chr7:79815200-79859600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:79816200-79846800	Weak transcription	Esophagus	oesophagus
10	chr7:79816400-79854800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:79817000-79841000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:79817000-79842400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:79817000-79851200	Weak transcription	Aorta	Aorta
14	chr7:79820600-79847000	Weak transcription	NHLF	lung
15	chr7:79820600-79853800	Weak transcription	Left Ventricle	heart
16	chr7:79825000-79847400	Weak transcription	Pancreas	Pancrea
17	chr7:79825200-79844000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr7:79825400-79856600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr7:79825800-79837000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr7:79826600-79835200	Weak transcription	HepG2	liver
21	chr7:79826600-79837800	Weak transcription	Fetal Heart	heart
22	chr7:79827000-79842600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr7:79827200-79837800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:79827200-79837800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:79827200-79838000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:79827400-79842200	Weak transcription	NH-A	brain
27	chr7:79827800-79835800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:79828000-79839600	Weak transcription	Fetal Intestine Large	intestine
29	chr7:79828000-79845600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:79828200-79836400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:79828200-79842200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr7:79828400-79834200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:79828400-79835600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:79828600-79834000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:79828600-79835000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:79828600-79835400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:79828600-79836200	Strong transcription	Adipose Nuclei	Adipose
38	chr7:79828600-79836600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:79828800-79835200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:79829000-79834800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:79829200-79846000	Weak transcription	Right Ventricle	heart
42	chr7:79829200-79853000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:79829400-79845800	Weak transcription	Psoas Muscle	Psoas
44	chr7:79829600-79835600	Strong transcription	Fetal Lung	lung
45	chr7:79829600-79836200	Weak transcription	Brain Angular Gyrus	brain
46	chr7:79829600-79841200	Weak transcription	Fetal Muscle Leg	muscle
47	chr7:79829800-79834400	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:79829800-79835800	Strong transcription	HMEC	breast
49	chr7:79830200-79834200	Strong transcription	Liver	Liver
50	chr7:79830200-79834600	Strong transcription	Primary hematopoietic stem cells	blood

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