Variant report

Variant	rs4723864
Chromosome Location	chr7:39498410-39498411
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10233706	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10261375	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12533673	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2024104	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2052017	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2052018	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2052019	0.88[CEU][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2108717	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2282915	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4720324	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4723865	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6960142	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs763894	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs885689	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][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	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv966782	chr7:39454992-39581886	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer 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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39485800-39502000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:39488400-39499400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:39492000-39504800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:39493800-39500800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:39494000-39499400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:39494000-39500800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:39497200-39503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:39497600-39498600	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr7:39497600-39499400	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr7:39497800-39498600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:39497800-39498600	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr7:39497800-39498600	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr7:39497800-39498600	Flanking Active TSS	K562	blood
14	chr7:39497800-39498800	Enhancers	Placenta	Placenta
15	chr7:39497800-39499400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr7:39498000-39498600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:39498200-39498600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:39498200-39498600	Flanking Active TSS	NHDF-Ad	bronchial
19	chr7:39498200-39500000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr7:39498200-39504600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:39498400-39498600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:39498400-39498600	Enhancers	Adipose Nuclei	Adipose
23	chr7:39498400-39498600	Enhancers	Fetal Muscle Leg	muscle
24	chr7:39498400-39498600	Flanking Active TSS	Psoas Muscle	Psoas
25	chr7:39498400-39498600	Active TSS	Osteobl	bone

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