Variant report

Variant	rs6104721
Chromosome Location	chr20:11180086-11180087
allele	A/G
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:11)

rs_ID	r²[population]
rs1013499	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1884163	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1884164	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2207101	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2207412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4813965	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6033055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6040429	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6040430	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6078099	0.96[ASN][1000 genomes]
rs6108864	0.81[CHB][hapmap];0.87[JPT][hapmap];0.83[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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585416	chr20:11156775-11190087	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1056067	chr20:11174581-11213919	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11176600-11180200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr20:11177200-11180200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr20:11177400-11180200	Weak transcription	Right Ventricle	heart
4	chr20:11177400-11185400	Weak transcription	A549	lung
5	chr20:11177600-11185800	Weak transcription	GM12878-XiMat	blood
6	chr20:11177800-11185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr20:11178200-11185200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr20:11178200-11185200	Weak transcription	HMEC	breast
9	chr20:11178400-11180200	Weak transcription	NHEK	skin
10	chr20:11179800-11180200	Enhancers	Brain Cingulate Gyrus	brain
11	chr20:11179800-11180200	Enhancers	Small Intestine	intestine
12	chr20:11179800-11180400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr20:11179800-11181000	Enhancers	Fetal Intestine Large	intestine
14	chr20:11180000-11180200	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr20:11180000-11180200	Enhancers	Spleen	Spleen
16	chr20:11180000-11180400	Enhancers	Brain Hippocampus Middle	brain
17	chr20:11180000-11180400	Enhancers	Brain Substantia Nigra	brain
18	chr20:11180000-11180800	Enhancers	Fetal Intestine Small	intestine

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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