Variant report

Variant	rs72819438
Chromosome Location	chr6:4661132-4661133
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11242965	0.82[ASN][1000 genomes]
rs12201817	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12201861	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12213814	0.90[EUR][1000 genomes]
rs1971444	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1971445	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063677	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2063678	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073042	0.90[EUR][1000 genomes]
rs2281275	0.90[EUR][1000 genomes]
rs443430	0.90[EUR][1000 genomes]
rs67325872	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918242	0.90[EUR][1000 genomes]
rs742570	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9328267	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328268	0.90[EUR][1000 genomes]
rs9378408	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9392619	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9405760	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv528627	chr6:4614058-4731340	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4656200-4661200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:4656200-4661200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:4656200-4661200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:4656400-4661200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:4656600-4661200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr6:4656600-4661400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:4656600-4661400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:4656600-4661400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:4659000-4664200	Weak transcription	Right Ventricle	heart
10	chr6:4659200-4662600	Weak transcription	K562	blood
11	chr6:4659200-4662800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:4660600-4661200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:4660600-4661400	Enhancers	Fetal Muscle Leg	muscle
14	chr6:4660600-4661400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr6:4660600-4661600	Enhancers	Psoas Muscle	Psoas
16	chr6:4660600-4661600	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr6:4660600-4661800	Enhancers	Aorta	Aorta
18	chr6:4660600-4662000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:4660800-4661200	Enhancers	Fetal Heart	heart
20	chr6:4661000-4661200	Enhancers	Right Atrium	heart
21	chr6:4661000-4661400	Enhancers	Fetal Stomach	stomach
22	chr6:4661000-4661400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr6:4661000-4661400	Bivalent Enhancer	HepG2	liver
24	chr6:4661000-4661600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:4661000-4661600	Enhancers	Fetal Muscle Trunk	muscle
26	chr6:4661000-4661600	Enhancers	A549	lung
27	chr6:4661000-4662000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:4661000-4662000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:4661000-4663400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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