Variant report

Variant	rs72721014
Chromosome Location	chr1:93935611-93935612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1079750	0.94[EUR][1000 genomes]
rs11164926	0.82[EUR][1000 genomes]
rs11164930	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164932	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164940	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060221	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12062584	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12069440	0.95[ASN][1000 genomes]
rs12086857	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12096122	0.86[ASN][1000 genomes]
rs12096561	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12409932	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12410123	1.00[ASN][1000 genomes]
rs17109951	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17109997	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17387059	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2011212	0.81[EUR][1000 genomes]
rs2081568	0.83[EUR][1000 genomes]
rs2624437	0.94[EUR][1000 genomes]
rs57710451	0.81[EUR][1000 genomes]
rs59792151	0.81[EUR][1000 genomes]
rs60822733	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61580948	0.81[EUR][1000 genomes]
rs6688111	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67012296	0.81[EUR][1000 genomes]
rs72721009	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721010	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72721019	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72961351	0.83[EUR][1000 genomes]
rs7339890	0.81[EUR][1000 genomes]
rs7539210	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7541984	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7553695	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs900310	0.81[EUR][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	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93915200-93935800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:93915200-93937000	Weak transcription	Esophagus	oesophagus
3	chr1:93915200-93937000	Weak transcription	Lung	lung
4	chr1:93917600-93937200	Weak transcription	Fetal Brain Male	brain
5	chr1:93919800-93937000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:93920000-93936800	Weak transcription	NH-A	brain
7	chr1:93920000-93943800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:93920400-93936600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:93921200-93936000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:93921200-93936600	Weak transcription	HUVEC	blood vessel
11	chr1:93921200-93937000	Weak transcription	Left Ventricle	heart
12	chr1:93921200-93939800	Weak transcription	Right Ventricle	heart
13	chr1:93922600-93944000	Weak transcription	Gastric	stomach
14	chr1:93924400-93937000	Weak transcription	Fetal Lung	lung
15	chr1:93925800-93937000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:93926000-93937200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr1:93926800-93936000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:93927200-93936400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:93927600-93943800	Weak transcription	Pancreas	Pancrea
20	chr1:93928400-93936600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr1:93929000-93946400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:93929400-93936600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr1:93930000-93937200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:93930600-93943600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:93933200-93936800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:93933200-93937600	Weak transcription	Fetal Kidney	kidney
27	chr1:93933400-93937000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr1:93933400-93943800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:93933600-93937000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:93933800-93936800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:93934200-93939000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:93934200-93943600	Weak transcription	Fetal Intestine Small	intestine
33	chr1:93934200-93943800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:93935600-93935800	Enhancers	Hela-S3	cervix
35	chr1:93935600-93937600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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