Variant report

Variant	rs59972409
Chromosome Location	chr7:70751390-70751391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10230586	0.80[ASN][1000 genomes]
rs10246940	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10265527	0.80[ASN][1000 genomes]
rs10267524	0.80[ASN][1000 genomes]
rs10268327	0.80[ASN][1000 genomes]
rs10271589	0.80[ASN][1000 genomes]
rs11761703	0.80[ASN][1000 genomes]
rs11765927	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11768963	0.80[ASN][1000 genomes]
rs12534549	0.82[ASN][1000 genomes]
rs12536668	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1317290	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1317429	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1317892	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17143199	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1922525	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1950148	0.84[ASN][1000 genomes]
rs2091792	0.81[ASN][1000 genomes]
rs2107797	0.80[ASN][1000 genomes]
rs2107800	0.80[ASN][1000 genomes]
rs2158609	0.80[ASN][1000 genomes]
rs2527308	0.80[ASN][1000 genomes]
rs2527314	0.80[ASN][1000 genomes]
rs2707432	0.80[ASN][1000 genomes]
rs28392825	0.80[ASN][1000 genomes]
rs28479972	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28588236	0.80[ASN][1000 genomes]
rs28664864	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28678480	0.86[ASN][1000 genomes]
rs3973938	0.81[ASN][1000 genomes]
rs4445102	0.80[ASN][1000 genomes]
rs4520056	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4584034	0.80[ASN][1000 genomes]
rs4719104	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4719106	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4719107	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4719113	0.80[ASN][1000 genomes]
rs4719114	0.80[ASN][1000 genomes]
rs56166024	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57442026	0.81[ASN][1000 genomes]
rs6460652	0.81[ASN][1000 genomes]
rs6460653	0.81[ASN][1000 genomes]
rs6957946	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6976592	0.81[ASN][1000 genomes]
rs7788793	0.80[ASN][1000 genomes]
rs7791195	0.80[ASN][1000 genomes]
rs7796585	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9638614	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9638616	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9638620	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9654908	0.80[ASN][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	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
3	nsv1033155	chr7:70712368-70757929	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70732400-70755400	Weak transcription	Right Atrium	heart
2	chr7:70740000-70751600	Weak transcription	Left Ventricle	heart
3	chr7:70745800-70755000	Weak transcription	Fetal Heart	heart
4	chr7:70748000-70751400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:70748000-70751400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:70748000-70751600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:70749800-70752000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:70750000-70751600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr7:70750000-70751800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr7:70750000-70752200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:70750200-70751800	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:70750200-70752200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:70750200-70752200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:70750200-70752200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:70750400-70751600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:70750400-70751600	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:70750400-70751600	Enhancers	HSMM	muscle
18	chr7:70750400-70752000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:70750600-70752200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:70750600-70752400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:70750600-70752600	Enhancers	Fetal Muscle Leg	muscle
22	chr7:70750600-70752800	Enhancers	Fetal Lung	lung
23	chr7:70750800-70751800	Weak transcription	Fetal Stomach	stomach
24	chr7:70750800-70752600	Enhancers	Colon Smooth Muscle	Colon
25	chr7:70751000-70751400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:70751000-70751600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:70751000-70751800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
28	chr7:70751000-70751800	Enhancers	Rectal Smooth Muscle	rectum
29	chr7:70751000-70751800	Enhancers	Stomach Smooth Muscle	stomach
30	chr7:70751000-70752200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr7:70751200-70752000	Enhancers	Brain Hippocampus Middle	brain
32	chr7:70751200-70752600	Enhancers	Ovary	ovary
33	chr7:70751200-70755400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:70751200-70768200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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