Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84719167..84721681-chr1:84724768..84726729,2	MCF-7	breast:
2	chr1:84720921..84723664-chr1:84724044..84726966,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10782825	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11163925	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12070215	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12126586	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12134263	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12135635	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17131308	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17131371	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2811994	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs585992	0.97[EUR][1000 genomes]
rs600771	0.82[EUR][1000 genomes]
rs601301	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs605969	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs606816	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs606904	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs608672	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61766401	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs620856	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs621670	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs621750	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs643521	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs663630	0.88[AMR][1000 genomes];0.95[EUR][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	nsv830414	chr1:84636738-84824651	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv830426	chr1:84704924-84856229	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84720600-84727400	Weak transcription	Aorta	Aorta
2	chr1:84721600-84728200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:84723800-84726800	Weak transcription	Gastric	stomach
4	chr1:84725400-84726600	Enhancers	A549	lung
5	chr1:84725600-84727000	Enhancers	Pancreas	Pancrea
6	chr1:84725600-84727400	Enhancers	Stomach Mucosa	stomach
7	chr1:84726000-84726400	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr1:84726000-84727000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:84726000-84727000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:84726000-84727000	Enhancers	Fetal Intestine Large	intestine
11	chr1:84726000-84727200	Enhancers	Fetal Intestine Small	intestine
12	chr1:84726000-84727400	Enhancers	HepG2	liver
13	chr1:84726000-84727800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr1:84726200-84727400	Enhancers	Pancreatic Islets	Pancreatic Islet

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