Variant report

Variant	rs72703728
Chromosome Location	chr14:81834523-81834524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10450894	0.81[EUR][1000 genomes]
rs10450939	0.81[EUR][1000 genomes]
rs10450940	0.81[EUR][1000 genomes]
rs11621378	0.81[EUR][1000 genomes]
rs12432021	0.82[AMR][1000 genomes]
rs12435764	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12436146	0.81[EUR][1000 genomes]
rs28818872	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4083463	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55991247	0.80[EUR][1000 genomes]
rs56161464	0.80[EUR][1000 genomes]
rs56223983	0.80[EUR][1000 genomes]
rs59969857	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61986593	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61986597	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61986598	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61986599	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6574646	0.81[EUR][1000 genomes]
rs7146802	0.81[EUR][1000 genomes]
rs7147254	0.81[EUR][1000 genomes]
rs7153469	0.81[EUR][1000 genomes]
rs8008024	0.81[EUR][1000 genomes]
rs8020575	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81820800-81836400	Weak transcription	K562	blood
2	chr14:81822000-81834600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:81830400-81836200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:81830600-81837600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr14:81831000-81836400	Weak transcription	Adipose Nuclei	Adipose
6	chr14:81831000-81837600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:81831000-81849400	Weak transcription	Fetal Kidney	kidney
8	chr14:81831200-81839400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:81832400-81838400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:81832800-81835200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:81832800-81835400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr14:81832800-81838000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:81833000-81835200	Weak transcription	Brain Hippocampus Middle	brain
14	chr14:81833000-81835200	Weak transcription	NHEK	skin
15	chr14:81833000-81835400	Weak transcription	Ovary	ovary
16	chr14:81833000-81836000	Weak transcription	HSMM	muscle
17	chr14:81833000-81836600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:81833000-81837200	Weak transcription	Psoas Muscle	Psoas
19	chr14:81833000-81837800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:81833000-81838000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr14:81833000-81838000	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:81833000-81838000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr14:81833000-81839000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:81833000-81841400	Weak transcription	Spleen	Spleen
25	chr14:81833200-81835400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:81833200-81836000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:81833200-81836200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:81833200-81836600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:81833200-81837800	Weak transcription	NHDF-Ad	bronchial
30	chr14:81833200-81839800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr14:81833200-81843200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:81833200-81850800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:81833200-81858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr14:81833400-81835000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr14:81833400-81835200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:81833400-81838000	Weak transcription	HMEC	breast
37	chr14:81833600-81835200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr14:81833600-81837600	Strong transcription	Fetal Muscle Leg	muscle
39	chr14:81833600-81838800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:81833600-81839800	Weak transcription	Brain Anterior Caudate	brain
41	chr14:81833800-81835200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:81833800-81837200	Weak transcription	Esophagus	oesophagus
43	chr14:81834200-81834600	Enhancers	Fetal Stomach	stomach
44	chr14:81834200-81835200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:81834200-81836000	Weak transcription	Liver	Liver
46	chr14:81834200-81859200	Weak transcription	Placenta	Placenta
47	chr14:81834400-81837400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:81834400-81838000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:81834400-81839200	Weak transcription	Fetal Intestine Small	intestine

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