Variant report

Variant	rs12624898
Chromosome Location	chr20:16046621-16046622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10485545	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs1323300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16997016	0.86[CHB][hapmap]
rs16997071	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16997087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2066089	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6074997	0.86[AMR][1000 genomes]
rs6074999	0.86[AMR][1000 genomes]
rs6080103	0.86[AMR][1000 genomes]
rs6080109	0.86[CHB][hapmap];0.86[AMR][1000 genomes]
rs6080111	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs62194240	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7352607	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3447866	chr20:15799286-16115291	Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1059778	chr20:15999519-16165895	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv544207	chr20:15999519-16165895	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv585649	chr20:16004320-16066764	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1061301	chr20:16007489-16097070	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16042000-16047000	Enhancers	Brain Germinal Matrix	brain
2	chr20:16043400-16048000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr20:16043800-16047400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr20:16043800-16047400	Enhancers	HSMMtube	muscle
5	chr20:16043800-16047600	Enhancers	Fetal Muscle Leg	muscle
6	chr20:16044000-16047000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr20:16044000-16047000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr20:16044200-16047400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr20:16044400-16047200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:16044600-16047000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr20:16044600-16047800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr20:16044800-16046800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr20:16045000-16046800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr20:16045000-16046800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr20:16045000-16047000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr20:16045000-16047000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr20:16045000-16047000	Enhancers	Ovary	ovary
18	chr20:16045000-16047600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:16045000-16047800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:16045200-16047000	Enhancers	Left Ventricle	heart
21	chr20:16045200-16047400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr20:16045200-16047400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr20:16045200-16047400	Enhancers	Fetal Heart	heart
24	chr20:16045200-16047800	Enhancers	HepG2	liver
25	chr20:16045600-16046800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:16046000-16046800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:16046000-16046800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr20:16046200-16047600	Weak transcription	Fetal Brain Female	brain
29	chr20:16046200-16047800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr20:16046400-16047800	Enhancers	Fetal Muscle Trunk	muscle
31	chr20:16046600-16047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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