Variant report

Variant	rs72722475
Chromosome Location	chr1:92989743-92989744
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	chr1:92987883..92989891-chr1:93008621..93010399,2	K562	blood:
2	chr1:92975440..92978255-chr1:92987459..92989945,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10874637	0.86[ASN][1000 genomes]
rs11581176	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588509	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11588545	0.85[ASN][1000 genomes]
rs11804321	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11805007	0.85[ASN][1000 genomes]
rs11807962	0.85[ASN][1000 genomes]
rs11808092	0.85[ASN][1000 genomes]
rs12733238	0.85[ASN][1000 genomes]
rs12743520	0.85[ASN][1000 genomes]
rs12756786	0.85[ASN][1000 genomes]
rs1333743	0.85[ASN][1000 genomes]
rs1415296	0.85[ASN][1000 genomes]
rs34221961	0.85[ASN][1000 genomes]
rs34734076	0.85[ASN][1000 genomes]
rs3790450	0.85[ASN][1000 genomes]
rs41286801	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41313373	1.00[ASN][1000 genomes]
rs4642892	0.85[ASN][1000 genomes]
rs56044027	0.85[ASN][1000 genomes]
rs56307974	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56406332	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58394161	0.86[ASN][1000 genomes]
rs6603973	0.86[ASN][1000 genomes]
rs6603974	0.86[ASN][1000 genomes]
rs6660889	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6689470	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6697978	0.91[EUR][1000 genomes]
rs72722469	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722484	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72722498	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72724515	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea
2	chr1:92968200-93042800	Weak transcription	HSMM	muscle
3	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:92969800-92992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:92969800-92996800	Weak transcription	NH-A	brain
6	chr1:92970000-92992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:92971400-92998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:92972600-93013400	Weak transcription	Ovary	ovary
9	chr1:92973800-92997600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:92973800-93002200	Weak transcription	Fetal Intestine Large	intestine
11	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
12	chr1:92977400-92993200	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:92977600-92995000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:92977600-92995800	Weak transcription	Right Ventricle	heart
15	chr1:92977600-93010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:92977600-93013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:92977800-92995000	Weak transcription	Lung	lung
18	chr1:92978000-92995600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:92978800-92991600	Weak transcription	Fetal Intestine Small	intestine
20	chr1:92979600-92992600	Weak transcription	Left Ventricle	heart
21	chr1:92979600-92993000	Weak transcription	Placenta	Placenta
22	chr1:92979600-93002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:92981800-93004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:92981800-93033400	Weak transcription	NHEK	skin
25	chr1:92982200-92991800	Weak transcription	Liver	Liver
26	chr1:92982400-92992000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr1:92983400-92998600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr1:92983600-92991800	Weak transcription	Brain Angular Gyrus	brain
29	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
30	chr1:92984400-92992600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:92985200-92992000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr1:92986800-93002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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