Variant report

Variant	rs72713322
Chromosome Location	chr14:105967278-105967279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105967019..105968917-chr14:105969216..105971948,3	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10133083	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10136015	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10139300	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10139744	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10147392	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10151805	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10152050	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11622603	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11628497	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12717698	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12893999	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13379293	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28402171	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28431397	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34564731	0.95[EUR][1000 genomes]
rs35240373	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35471125	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35511437	0.96[EUR][1000 genomes]
rs35723046	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35921705	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55958808	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56142547	0.88[ASN][1000 genomes]
rs58087925	0.85[EUR][1000 genomes]
rs66710832	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7141834	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7160747	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72713323	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8003942	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8004007	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8005568	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8013827	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8014713	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8014913	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105957800-105971800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:105958000-105968600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:105958200-105969200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:105958400-105968600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:105958400-105973800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:105958600-105967800	Weak transcription	Stomach Mucosa	stomach
7	chr14:105958800-105967800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:105958800-105968000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:105958800-105968600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr14:105960000-105970800	Weak transcription	Fetal Brain Female	brain
11	chr14:105962400-105967400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:105964800-105970600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr14:105965000-105967400	Weak transcription	Fetal Intestine Large	intestine
14	chr14:105965000-105968400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr14:105965000-105968800	Weak transcription	NHLF	lung
16	chr14:105965200-105967800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr14:105965200-105968200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr14:105965400-105967400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr14:105965400-105968800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr14:105965400-105968800	Weak transcription	Lung	lung
21	chr14:105965600-105967400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:105965600-105967600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr14:105965600-105968200	Weak transcription	Colonic Mucosa	Colon
24	chr14:105965600-105969000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr14:105965600-105969600	Weak transcription	Adipose Nuclei	Adipose
26	chr14:105965600-105970000	Weak transcription	Dnd41	blood
27	chr14:105965600-105974400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:105965800-105968400	Weak transcription	Right Ventricle	heart
29	chr14:105966000-105967800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:105966200-105968800	Weak transcription	Spleen	Spleen
31	chr14:105966400-105969600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr14:105966600-105968000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:105966600-105968600	Weak transcription	Fetal Stomach	stomach
34	chr14:105966600-105970600	Weak transcription	Fetal Intestine Small	intestine
35	chr14:105966800-105969600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr14:105966800-105969600	Weak transcription	Thymus	Thymus
37	chr14:105967000-105967400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:105967000-105970600	Weak transcription	A549	lung
39	chr14:105967000-105970800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:105967000-105970800	Enhancers	HepG2	liver
41	chr14:105967200-105967400	Enhancers	Liver	Liver
42	chr14:105967200-105967400	Enhancers	Pancreas	Pancrea
43	chr14:105967200-105970600	Weak transcription	Brain Substantia Nigra	brain

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