Variant report

Variant	rs17711924
Chromosome Location	chr20:16005226-16005227
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13040115	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555565	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34589426	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34676431	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35131822	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35636462	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58344025	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61043991	0.91[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs66544354	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67148464	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73237767	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74179797	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs880169	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs880170	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][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	nsv1065548	chr20:15971797-16023086	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15998400-16012000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr20:16002200-16005800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr20:16003600-16007800	Weak transcription	Fetal Brain Female	brain
4	chr20:16004200-16006000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr20:16004200-16006200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:16004200-16008800	Enhancers	Primary B cells from peripheral blood	blood
7	chr20:16004400-16006200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr20:16004400-16006200	Enhancers	Primary B cells from cord blood	blood
9	chr20:16004400-16006400	Enhancers	HSMMtube	muscle
10	chr20:16004600-16005400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr20:16004600-16006400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr20:16004600-16006400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr20:16004600-16007200	Weak transcription	Brain Germinal Matrix	brain
14	chr20:16004800-16006400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr20:16004800-16007800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr20:16005000-16005400	Enhancers	Primary T cells from cord blood	blood
17	chr20:16005000-16005600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr20:16005000-16006400	Enhancers	HSMM	muscle
19	chr20:16005000-16008600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:16005200-16005600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr20:16005200-16006200	Enhancers	Ovary	ovary
22	chr20:16005200-16006400	Enhancers	Fetal Muscle Leg	muscle
23	chr20:16005200-16009800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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