Variant report

Variant	rs11623634
Chromosome Location	chr14:81828944-81828945
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81828038..81830813-chr14:81831805..81834058,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10450894	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10450939	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10450940	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11623515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628716	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434395	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434434	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436146	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28818872	0.81[ASN][1000 genomes]
rs3853416	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55921727	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55991247	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs56039699	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58532062	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61986576	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61986592	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6574646	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7146788	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7146802	0.85[ASN][1000 genomes]
rs7147012	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147254	0.85[ASN][1000 genomes]
rs7147969	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151434	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7153469	0.85[ASN][1000 genomes]
rs8007219	0.80[ASN][1000 genomes]
rs8008024	0.85[ASN][1000 genomes]
rs8009083	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8009171	0.85[ASN][1000 genomes]
rs8010181	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8011609	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8011624	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8014260	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014636	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	esv3358936	chr14:81786719-81928269	Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv902119	chr14:81810945-81884857	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81803800-81832200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:81808400-81829200	Weak transcription	HMEC	breast
3	chr14:81808800-81830200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:81813400-81829800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr14:81820800-81836400	Weak transcription	K562	blood
6	chr14:81822000-81831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:81822000-81834600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr14:81822200-81830600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr14:81824600-81830200	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:81826400-81832600	Weak transcription	Psoas Muscle	Psoas
11	chr14:81826600-81831200	Weak transcription	Ovary	ovary
12	chr14:81826800-81830200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:81828600-81832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:81828800-81830200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:81828800-81831200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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