Variant report

Variant	rs61986593
Chromosome Location	chr14:81840659-81840660
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81817681..81819808-chr14:81839825..81842521,2	MCF-7	breast:
2	chr14:81686224..81688353-chr14:81839920..81841889,2	K562	blood:
3	chr14:81686323..81687896-chr14:81840173..81843007,2	MCF-7	breast:
4	chr14:81834534..81837450-chr14:81839716..81841468,3	K562	blood:
5	chr14:81839869..81841648-chr14:81852139..81854142,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10450894	0.87[EUR][1000 genomes]
rs10450939	0.87[EUR][1000 genomes]
rs10450940	0.87[EUR][1000 genomes]
rs11621378	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12432021	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12435764	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12436146	0.87[EUR][1000 genomes]
rs2012796	0.85[EUR][1000 genomes]
rs2371597	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28818872	0.84[EUR][1000 genomes]
rs4083463	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55991247	0.86[EUR][1000 genomes]
rs56161464	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56223983	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59969857	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61986597	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61986598	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61986599	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6574646	0.87[EUR][1000 genomes]
rs6574647	0.82[EUR][1000 genomes]
rs68143923	0.83[EUR][1000 genomes]
rs7146802	0.87[EUR][1000 genomes]
rs7147254	0.87[EUR][1000 genomes]
rs7153469	0.87[EUR][1000 genomes]
rs72703728	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8007219	0.85[EUR][1000 genomes]
rs8008024	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8009171	0.85[EUR][1000 genomes]
rs8011477	0.81[ASN][1000 genomes]
rs8016255	0.81[ASN][1000 genomes]
rs8020575	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81831000-81849400	Weak transcription	Fetal Kidney	kidney
2	chr14:81833000-81841400	Weak transcription	Spleen	Spleen
3	chr14:81833200-81843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:81833200-81850800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
7	chr14:81835800-81843800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:81835800-81851200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr14:81836400-81885800	Weak transcription	Gastric	stomach
10	chr14:81837000-81858800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr14:81837200-81847800	Weak transcription	K562	blood
12	chr14:81837600-81840800	Weak transcription	Psoas Muscle	Psoas
13	chr14:81837600-81843800	Weak transcription	Adipose Nuclei	Adipose
14	chr14:81837600-81844600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr14:81837600-81846800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr14:81837600-81849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:81837600-81850200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr14:81837600-81850800	Weak transcription	Esophagus	oesophagus
19	chr14:81837600-81856200	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:81838400-81844600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr14:81838400-81846600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:81838400-81847800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:81839400-81843400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:81839600-81848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:81840400-81840800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:81840600-81841600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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