Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92970721..92973129-chr1:92975876..92977774,2	K562	blood:
2	chr1:92971064..92972652-chr1:92984833..92987598,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17371561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17380378	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34324830	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs71650498	1.00[AFR][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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs35846792	FAM69A	cis	Artery Tibial	GTEx
rs35846792	FAM69A	cis	Artery Aorta	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92952800-92991400	Weak transcription	Pancreas	Pancrea
2	chr1:92967800-92978400	Weak transcription	Fetal Intestine Small	intestine
3	chr1:92967800-92986000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:92968200-92975200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr1:92968200-92977400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:92968200-93042800	Weak transcription	HSMM	muscle
7	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:92968600-92971800	Enhancers	Fetal Thymus	thymus
9	chr1:92969000-92971400	Enhancers	Thymus	Thymus
10	chr1:92969400-92979800	Weak transcription	HSMMtube	muscle
11	chr1:92969600-92984200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:92969800-92971400	Flanking Active TSS	Dnd41	blood
13	chr1:92969800-92992000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:92969800-92996800	Weak transcription	NH-A	brain
15	chr1:92970000-92972000	Weak transcription	Spleen	Spleen
16	chr1:92970000-92992200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:92970400-92971400	Enhancers	Liver	Liver
18	chr1:92970600-92981800	Weak transcription	Primary B cells from cord blood	blood
19	chr1:92970800-92977200	Weak transcription	GM12878-XiMat	blood
20	chr1:92970800-92978800	Weak transcription	Placenta	Placenta
21	chr1:92971000-92971400	Flanking Active TSS	HepG2	liver

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