Variant report

Variant	rs1338074
Chromosome Location	chr1:221785707-221785708
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10442685	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10495172	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10779452	0.86[AFR][1000 genomes]
rs10863640	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11118751	0.85[ASN][1000 genomes]
rs11118768	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11118778	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11118781	0.86[AFR][1000 genomes]
rs12023780	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12026281	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12029530	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12029601	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12744368	0.86[AFR][1000 genomes]
rs1342092	0.88[ASN][1000 genomes]
rs1538248	0.85[ASN][1000 genomes]
rs1858565	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933268	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1967553	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3860323	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4436399	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4450027	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4484930	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4498809	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658414	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6658746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658755	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6663135	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6663415	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6663637	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6663644	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6666514	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6697462	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6700617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7539000	0.85[AFR][1000 genomes]
rs9660488	0.88[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873200	chr1:221644180-221843191	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1011037	chr1:221756526-221809552	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221784600-221786200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr1:221785000-221786000	Enhancers	Brain Germinal Matrix	brain
3	chr1:221785000-221786600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:221785200-221786000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr1:221785200-221786000	Flanking Active TSS	Hela-S3	cervix
6	chr1:221785200-221786200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:221785200-221786200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr1:221785200-221786200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:221785200-221786200	Enhancers	Placenta	Placenta
10	chr1:221785200-221786200	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:221785200-221786200	Enhancers	Stomach Smooth Muscle	stomach
12	chr1:221785200-221786200	Enhancers	NH-A	brain
13	chr1:221785200-221786400	Enhancers	Fetal Lung	lung
14	chr1:221785200-221786600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:221785200-221786600	Enhancers	Colon Smooth Muscle	Colon
16	chr1:221785200-221786600	Enhancers	NHDF-Ad	bronchial
17	chr1:221785200-221786800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:221785400-221785800	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr1:221785400-221785800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:221785400-221786000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr1:221785400-221786000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:221785400-221786000	Enhancers	Adipose Nuclei	Adipose
23	chr1:221785400-221786000	Enhancers	Brain Hippocampus Middle	brain
24	chr1:221785400-221786000	Enhancers	Ovary	ovary
25	chr1:221785400-221786000	Enhancers	NHLF	lung
26	chr1:221785400-221786200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:221785400-221786200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:221785400-221786200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr1:221785400-221786200	Enhancers	Fetal Stomach	stomach
30	chr1:221785400-221786200	Flanking Active TSS	A549	lung
31	chr1:221785400-221786200	Enhancers	HSMMtube	muscle
32	chr1:221785400-221786200	Enhancers	K562	blood
33	chr1:221785400-221786200	Enhancers	Osteobl	bone
34	chr1:221785400-221786400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:221785400-221786400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:221785400-221786400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:221785400-221786400	Enhancers	NHEK	skin
38	chr1:221785400-221786800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:221785400-221786800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:221785600-221786000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:221785600-221786000	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr1:221785600-221786000	Enhancers	Brain Angular Gyrus	brain
43	chr1:221785600-221786000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:221785600-221786200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:221785600-221786200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:221785600-221786200	Enhancers	Fetal Muscle Leg	muscle
47	chr1:221785600-221786200	Enhancers	Left Ventricle	heart
48	chr1:221785600-221786200	Enhancers	Psoas Muscle	Psoas
49	chr1:221785600-221786400	Enhancers	HMEC	breast
50	chr1:221785600-221786800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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