Variant report

Variant	rs844819
Chromosome Location	chr20:23081090-23081091
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23079507..23082069-chr20:23090544..23092164,2	K562	blood:
2	chr20:23080110..23082822-chr20:23132025..23133564,2	K562	blood:
3	chr20:23080717..23083720-chr20:23084515..23087690,4	K562	blood:
4	chr20:23029285..23030883-chr20:23079788..23082337,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178726	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1338945	0.94[CHB][hapmap]
rs17756373	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1856471	0.83[EUR][1000 genomes]
rs34151880	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34290000	0.81[EUR][1000 genomes]
rs4446126	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6036310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048544	0.81[EUR][1000 genomes]
rs6048545	0.84[CEU][hapmap];0.81[EUR][1000 genomes]
rs6048546	0.83[CEU][hapmap]
rs6048548	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6048549	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6076024	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6076025	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6076026	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6076027	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6083006	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62202612	0.85[EUR][1000 genomes]
rs699794	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs699795	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844814	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs844815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844816	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs844817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844821	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844822	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844823	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844825	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844827	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844828	0.97[ASN][1000 genomes]
rs844829	0.97[ASN][1000 genomes]
rs844830	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs844831	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs844846	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs844850	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs844851	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844852	0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844853	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844854	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs844856	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844857	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844860	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844861	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844862	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844863	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844864	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844865	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs844866	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23072800-23092000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:23073000-23087000	Weak transcription	Gastric	stomach
3	chr20:23073800-23085800	Weak transcription	Right Ventricle	heart
4	chr20:23074600-23082200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:23074600-23083000	Weak transcription	Right Atrium	heart
6	chr20:23075000-23083000	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr20:23075000-23085600	Weak transcription	Fetal Lung	lung
8	chr20:23076600-23082400	Weak transcription	HUVEC	blood vessel
9	chr20:23077400-23084800	Enhancers	Placenta	Placenta
10	chr20:23077800-23082400	Weak transcription	Left Ventricle	heart
11	chr20:23079000-23081600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr20:23079000-23084400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:23079200-23082600	Weak transcription	Lung	lung
14	chr20:23079200-23083400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr20:23079400-23082000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr20:23079800-23083400	Enhancers	Esophagus	oesophagus
17	chr20:23080000-23082200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr20:23080000-23082200	Enhancers	HMEC	breast
19	chr20:23080000-23082600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr20:23080200-23081200	Enhancers	Adipose Nuclei	Adipose
21	chr20:23080200-23082000	Enhancers	Fetal Stomach	stomach
22	chr20:23080600-23081200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:23080600-23081200	Flanking Active TSS	NHEK	skin
24	chr20:23080600-23081400	Enhancers	Fetal Muscle Leg	muscle
25	chr20:23080600-23081600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr20:23080600-23081800	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr20:23080800-23081800	Enhancers	Fetal Muscle Trunk	muscle
28	chr20:23081000-23082400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr20:23081000-23082800	Weak transcription	Spleen	Spleen
30	chr20:23081000-23085800	Weak transcription	Fetal Thymus	thymus
31	chr20:23081000-23086400	Enhancers	Primary neutrophils fromperipheralblood	blood

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