Variant report

Variant	rs731194
Chromosome Location	chr1:85795951-85795952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1006989	0.83[EUR][1000 genomes]
rs10489510	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10747318	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10782549	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10873701	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12022248	0.90[ASN][1000 genomes]
rs12029221	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12033483	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12034249	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12035116	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038426	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042780	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12047189	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1261681	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1342323	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1357635	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1357636	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1391556	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1523995	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1608537	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17384213	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17388696	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1965876	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2016104	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2037594	0.83[EUR][1000 genomes]
rs2064510	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2124139	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2300633	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2389948	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3851268	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4428939	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4512701	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4631749	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4949889	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4949897	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4949898	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949899	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs499869	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs539714	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs600098	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs604974	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs631817	0.83[EUR][1000 genomes]
rs6420965	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs659070	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6672870	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72722663	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72722671	0.98[ASN][1000 genomes]
rs72722691	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722692	0.87[AMR][1000 genomes]
rs72724608	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7515261	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7539738	0.83[EUR][1000 genomes]
rs7555670	0.83[EUR][1000 genomes]
rs990916	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85788600-85797400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:85790400-85796200	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:85790400-85797000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:85790600-85800000	Enhancers	HUVEC	blood vessel
5	chr1:85791000-85796800	Enhancers	HepG2	liver
6	chr1:85791200-85798000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:85791400-85797400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:85792200-85796400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr1:85792200-85806000	Weak transcription	Fetal Kidney	kidney
10	chr1:85792400-85796200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:85792600-85797800	Weak transcription	Fetal Intestine Small	intestine
12	chr1:85792800-85796600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr1:85793000-85797000	Enhancers	HMEC	breast
14	chr1:85793200-85797000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:85793200-85797600	Enhancers	NHEK	skin
16	chr1:85793200-85798600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:85793400-85797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:85793600-85798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:85794000-85796600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr1:85794000-85797000	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:85794000-85798200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:85794200-85796600	Enhancers	Placenta	Placenta
23	chr1:85794200-85798000	Enhancers	Fetal Muscle Leg	muscle
24	chr1:85794400-85796200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:85794400-85796800	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:85794400-85797400	Enhancers	Fetal Heart	heart
27	chr1:85794600-85796200	Enhancers	Fetal Lung	lung
28	chr1:85794600-85796200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:85794600-85796600	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr1:85794600-85796800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:85794600-85797600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:85794800-85796400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:85794800-85798200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr1:85795000-85796400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:85795000-85796600	Enhancers	Brain Hippocampus Middle	brain
36	chr1:85795000-85796800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:85795000-85798000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:85795200-85796400	Enhancers	A549	lung
39	chr1:85795200-85798600	Weak transcription	Fetal Intestine Large	intestine
40	chr1:85795400-85796200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:85795400-85796600	Enhancers	Stomach Mucosa	stomach
42	chr1:85795400-85797000	Enhancers	Placenta Amnion	Placenta Amnion
43	chr1:85795600-85796400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:85795600-85796600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr1:85795600-85796600	Enhancers	H9 Cell Line	embryonic stem cell
46	chr1:85795600-85796600	Flanking Active TSS	HSMMtube	muscle
47	chr1:85795600-85796600	Flanking Active TSS	NH-A	brain
48	chr1:85795600-85796800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr1:85795600-85796800	Enhancers	Left Ventricle	heart
50	chr1:85795600-85796800	Enhancers	Right Ventricle	heart

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