Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8841452..8843740-chr18:8854124..8856281,2	K562	blood:
2	chr18:8836082..8838682-chr18:8841919..8844783,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1000080	0.99[ASN][1000 genomes]
rs10502383	0.92[ASN][1000 genomes]
rs11877395	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12961402	0.92[ASN][1000 genomes]
rs12961417	0.92[ASN][1000 genomes]
rs12962569	0.91[ASN][1000 genomes]
rs12962725	0.91[ASN][1000 genomes]
rs12968144	0.91[ASN][1000 genomes]
rs17407806	0.90[ASN][1000 genomes]
rs17407948	0.91[ASN][1000 genomes]
rs17407982	0.91[ASN][1000 genomes]
rs17408213	0.90[CHB][hapmap];0.81[JPT][hapmap];0.81[ASN][1000 genomes]
rs17486229	0.90[ASN][1000 genomes]
rs17486306	0.91[ASN][1000 genomes]
rs17486418	0.92[ASN][1000 genomes]
rs2889786	0.95[ASN][1000 genomes]
rs34123463	0.82[ASN][1000 genomes]
rs34170162	0.91[ASN][1000 genomes]
rs34550552	0.92[ASN][1000 genomes]
rs34674718	0.92[ASN][1000 genomes]
rs34850080	0.91[ASN][1000 genomes]
rs34984298	0.91[ASN][1000 genomes]
rs34998784	0.92[ASN][1000 genomes]
rs35613425	0.82[ASN][1000 genomes]
rs35720369	0.90[ASN][1000 genomes]
rs35868458	0.81[ASN][1000 genomes]
rs35951577	0.92[ASN][1000 genomes]
rs55899554	0.92[ASN][1000 genomes]
rs56202628	0.92[ASN][1000 genomes]
rs56295809	0.82[ASN][1000 genomes]
rs56320839	0.81[ASN][1000 genomes]
rs57070542	0.91[ASN][1000 genomes]
rs58515256	0.90[ASN][1000 genomes]
rs58551487	0.92[ASN][1000 genomes]
rs60153373	0.92[ASN][1000 genomes]
rs66499528	0.92[ASN][1000 genomes]
rs67193633	0.82[ASN][1000 genomes]
rs67414020	0.90[ASN][1000 genomes]
rs67699912	0.82[ASN][1000 genomes]
rs67869889	0.90[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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8835800-8844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:8839600-8844600	Weak transcription	Right Ventricle	heart
3	chr18:8839600-8844800	Weak transcription	Fetal Brain Male	brain
4	chr18:8839600-8845000	Weak transcription	Fetal Brain Female	brain
5	chr18:8839800-8844200	Weak transcription	Left Ventricle	heart
6	chr18:8841200-8843400	Enhancers	HMEC	breast
7	chr18:8841200-8845800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:8841600-8844000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr18:8841800-8845400	Enhancers	NHEK	skin
10	chr18:8841800-8847200	Weak transcription	Right Atrium	heart
11	chr18:8842000-8843400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:8842000-8845600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:8842400-8847000	Weak transcription	NH-A	brain
14	chr18:8842400-8847200	Weak transcription	Osteobl	bone
15	chr18:8842600-8844600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr18:8843200-8846600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr18:8843200-8847200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:8843200-8849800	Weak transcription	NHLF	lung

Quick Search: