Variant report

Variant	rs61986592
Chromosome Location	chr14:81832005-81832006
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: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11623515	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11623634	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11628716	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12434395	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12434434	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12435764	0.84[AMR][1000 genomes]
rs3853416	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56039699	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58532062	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59969857	0.82[AMR][1000 genomes]
rs61986576	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7146788	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7147012	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7147969	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014260	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8014636	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[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:40 , 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	chr14:81820800-81836400	Weak transcription	K562	blood
3	chr14:81822000-81834600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr14:81826400-81832600	Weak transcription	Psoas Muscle	Psoas
5	chr14:81828600-81832200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:81829200-81833600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:81829400-81832400	Weak transcription	Esophagus	oesophagus
8	chr14:81829600-81832200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:81830200-81832200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:81830200-81833400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:81830200-81833600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:81830400-81832200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:81830400-81832200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr14:81830400-81832400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr14:81830400-81832400	Weak transcription	Brain Germinal Matrix	brain
16	chr14:81830400-81836200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:81830600-81832400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:81830600-81832600	Weak transcription	Brain Hippocampus Middle	brain
19	chr14:81830600-81833200	Enhancers	NHDF-Ad	bronchial
20	chr14:81830600-81837600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr14:81830800-81832200	Weak transcription	Brain Substantia Nigra	brain
22	chr14:81830800-81833400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:81831000-81832600	Weak transcription	NHEK	skin
24	chr14:81831000-81836400	Weak transcription	Adipose Nuclei	Adipose
25	chr14:81831000-81837600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:81831000-81849400	Weak transcription	Fetal Kidney	kidney
27	chr14:81831200-81832200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:81831200-81832200	Weak transcription	HMEC	breast
29	chr14:81831200-81832400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:81831200-81832600	Weak transcription	Fetal Intestine Small	intestine
31	chr14:81831200-81833000	Enhancers	Ovary	ovary
32	chr14:81831200-81833400	Genic enhancers	Fetal Muscle Leg	muscle
33	chr14:81831200-81839400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:81831400-81832200	Weak transcription	Brain Anterior Caudate	brain
35	chr14:81831400-81832600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr14:81831400-81833000	Enhancers	Brain Cingulate Gyrus	brain
37	chr14:81831600-81832600	Weak transcription	Placenta	Placenta
38	chr14:81831800-81832400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:81832000-81832600	Enhancers	Fetal Muscle Trunk	muscle
40	chr14:81832000-81833200	Enhancers	Fetal Stomach	stomach

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