Variant report

Variant	rs6672361
Chromosome Location	chr1:57152791-57152792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11807758	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809287	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809354	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12568785	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1342382	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17848595	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2179761	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34294349	0.85[AFR][1000 genomes]
rs57114150	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59772508	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72668326	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72668331	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7553414	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv523032	chr1:57116909-57249558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	esv1831276	chr1:57139370-57175158	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
4	nsv520726	chr1:57143986-57205666	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57122800-57169600	Weak transcription	Ovary	ovary
2	chr1:57125600-57169800	Weak transcription	Aorta	Aorta
3	chr1:57135400-57160200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:57136200-57161400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:57143000-57153600	Weak transcription	NH-A	brain
6	chr1:57143600-57153600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr1:57144200-57165000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:57144200-57171800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:57144400-57169400	Weak transcription	Fetal Kidney	kidney
10	chr1:57144400-57173600	Weak transcription	Colon Smooth Muscle	Colon
11	chr1:57149600-57166000	Weak transcription	Right Ventricle	heart
12	chr1:57150000-57165800	Weak transcription	Left Ventricle	heart
13	chr1:57150600-57168000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:57151000-57165600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:57151400-57153600	Enhancers	A549	lung
16	chr1:57151400-57165400	Weak transcription	Fetal Heart	heart
17	chr1:57151800-57152800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:57152400-57153000	Weak transcription	Psoas Muscle	Psoas
19	chr1:57152400-57153600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:57152400-57153600	Weak transcription	NHEK	skin
21	chr1:57152400-57153800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:57152400-57153800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:57152400-57154000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:57152400-57154000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:57152400-57154000	Weak transcription	NHDF-Ad	bronchial
26	chr1:57152400-57154200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:57152400-57154200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:57152400-57154200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr1:57152400-57165800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:57152600-57153400	Weak transcription	HepG2	liver
31	chr1:57152600-57153600	Weak transcription	Hela-S3	cervix
32	chr1:57152600-57153600	Weak transcription	HMEC	breast
33	chr1:57152600-57153600	Weak transcription	HUVEC	blood vessel

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