Variant report

Variant	rs56307974
Chromosome Location	chr1:93032170-93032171
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11581176	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11588509	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11588545	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11589122	0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs11591094	0.85[ASN][1000 genomes]
rs11800771	0.85[ASN][1000 genomes]
rs11800848	0.85[ASN][1000 genomes]
rs11801763	0.83[AFR][1000 genomes]
rs11804321	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11805007	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11807962	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11808092	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11809055	0.85[ASN][1000 genomes]
rs12733238	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12743520	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12756786	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1333743	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1415296	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34221961	1.00[ASN][1000 genomes]
rs34231012	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs34734076	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34812295	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs36114576	0.85[ASN][1000 genomes]
rs3790450	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41286801	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41313373	0.85[ASN][1000 genomes]
rs4642892	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56044027	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56406332	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660889	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6689470	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6697978	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67026262	0.85[ASN][1000 genomes]
rs67646822	0.85[ASN][1000 genomes]
rs67876779	0.85[ASN][1000 genomes]
rs68160001	0.85[ASN][1000 genomes]
rs72722469	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722475	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722484	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72722498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72724515	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72724555	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv830603	chr1:93003657-93172206	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92968200-93042800	Weak transcription	HSMM	muscle
2	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
3	chr1:92981800-93033400	Weak transcription	NHEK	skin
4	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
5	chr1:92994600-93066000	Weak transcription	Placenta	Placenta
6	chr1:93004400-93032400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:93004400-93033000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:93004400-93042200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:93004400-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr1:93004400-93070000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:93007800-93042600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:93012000-93042800	Weak transcription	Left Ventricle	heart
13	chr1:93014800-93053000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:93014800-93100200	Weak transcription	Right Ventricle	heart
15	chr1:93017000-93066000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:93018600-93054600	Weak transcription	Lung	lung
17	chr1:93022000-93042400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:93024200-93056000	Weak transcription	Fetal Heart	heart
19	chr1:93026000-93033600	Weak transcription	Liver	Liver
20	chr1:93026000-93091800	Weak transcription	Hela-S3	cervix
21	chr1:93027000-93043400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:93027400-93066000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr1:93027800-93042400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:93027800-93042600	Weak transcription	NH-A	brain
25	chr1:93029200-93033000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr1:93029200-93039600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr1:93029200-93042400	Weak transcription	HUVEC	blood vessel
28	chr1:93029400-93046000	Weak transcription	Primary B cells from cord blood	blood
29	chr1:93029600-93036800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:93029800-93042400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr1:93030000-93054600	Weak transcription	Aorta	Aorta
32	chr1:93030000-93082200	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:93031000-93042600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:93032000-93054400	Weak transcription	Fetal Lung	lung

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