Variant report

Variant	rs7999971
Chromosome Location	chr13:40043103-40043104
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:40041631..40044378-chr13:40049076..40051590,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10492734	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10492735	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10492736	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10492737	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583299	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583316	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12583320	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583364	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583486	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12583593	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584059	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584721	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12586018	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12873765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059971	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17059988	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17060022	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17068651	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35613729	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57594426	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59403463	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59798386	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60199520	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175139	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175140	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175141	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73175149	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325544	0.85[EUR][1000 genomes]
rs7990728	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7990910	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995349	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7996490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8000564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888507	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv561536	chr13:40015948-40043224	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2757529	chr13:40040036-40090742	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2759933	chr13:40040036-40090742	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40037000-40051200	Weak transcription	Ovary	ovary
2	chr13:40037000-40053800	Weak transcription	Fetal Lung	lung
3	chr13:40037200-40043400	Weak transcription	Psoas Muscle	Psoas
4	chr13:40037200-40045000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:40037200-40045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr13:40037400-40045200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:40037400-40045400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:40037400-40053400	Weak transcription	Aorta	Aorta
9	chr13:40038000-40043200	Weak transcription	Right Atrium	heart
10	chr13:40038000-40043200	Weak transcription	Right Ventricle	heart
11	chr13:40040200-40043200	Weak transcription	Left Ventricle	heart
12	chr13:40040800-40045000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:40041200-40043400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:40041600-40057800	Weak transcription	NHDF-Ad	bronchial
15	chr13:40042000-40043600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr13:40042800-40047600	Weak transcription	Fetal Heart	heart
17	chr13:40043000-40048000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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