Variant report

Variant	rs12539682
Chromosome Location	chr7:70612759-70612760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1014092	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10950245	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10950246	0.85[AMR][1000 genomes]
rs10950247	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10950248	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11761504	0.81[AMR][1000 genomes]
rs11773272	0.84[AMR][1000 genomes]
rs12531756	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12540267	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12665914	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12674459	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17142542	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2040970	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2867041	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2903460	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34895774	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56344545	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60402344	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6460641	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7777592	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7778265	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7804724	0.80[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	nsv519090	chr7:70085934-71071896	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1034662	chr7:70275712-70722953	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1015261	chr7:70404302-71255933	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70601000-70613600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:70611400-70612800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:70611600-70613000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:70611600-70613000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:70611600-70613200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:70611600-70623800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:70611800-70612800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr7:70611800-70613200	Weak transcription	Right Atrium	heart
9	chr7:70611800-70613800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:70611800-70613800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:70611800-70615800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:70611800-70616000	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:70611800-70617000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:70611800-70620200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:70612000-70612800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:70612000-70612800	Weak transcription	Fetal Muscle Leg	muscle
17	chr7:70612000-70613000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:70612000-70614400	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr7:70612000-70614400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:70612000-70614400	Weak transcription	Pancreas	Pancrea
21	chr7:70612000-70615800	Weak transcription	Left Ventricle	heart
22	chr7:70612000-70617000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:70612000-70619800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr7:70612000-70636400	Weak transcription	Ovary	ovary
25	chr7:70612200-70613000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:70612200-70614400	Weak transcription	Fetal Stomach	stomach
27	chr7:70612200-70650600	Weak transcription	Fetal Lung	lung
28	chr7:70612400-70612800	Weak transcription	Aorta	Aorta

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