Variant report

Variant	rs6074998
Chromosome Location	chr20:16043960-16043961
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10485545	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16997016	1.00[CHB][hapmap]
rs6043705	0.97[ASN][1000 genomes]
rs6043708	0.98[ASN][1000 genomes]
rs6074997	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6074999	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6080103	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6080109	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6080111	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62194240	0.88[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	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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16033200-16045000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:16039400-16044400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr20:16039600-16045200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr20:16040600-16045200	Weak transcription	Adipose Nuclei	Adipose
5	chr20:16042000-16047000	Enhancers	Brain Germinal Matrix	brain
6	chr20:16042400-16044000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr20:16042400-16044000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr20:16042400-16045000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr20:16043200-16045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr20:16043200-16045600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:16043400-16044000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:16043400-16045200	Weak transcription	Fetal Heart	heart
13	chr20:16043400-16046600	Enhancers	HSMM	muscle
14	chr20:16043400-16048000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr20:16043600-16044000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr20:16043600-16044000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr20:16043800-16044000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr20:16043800-16044000	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr20:16043800-16044200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr20:16043800-16044200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr20:16043800-16044200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr20:16043800-16044200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr20:16043800-16044200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr20:16043800-16044400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr20:16043800-16044400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr20:16043800-16044400	Enhancers	Fetal Stomach	stomach
27	chr20:16043800-16045000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr20:16043800-16045000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr20:16043800-16045200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr20:16043800-16047400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr20:16043800-16047400	Enhancers	HSMMtube	muscle
32	chr20:16043800-16047600	Enhancers	Fetal Muscle Leg	muscle

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