Variant report

Variant	rs2811994
Chromosome Location	chr1:84724110-84724111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84701446..84703629-chr1:84722658..84725060,2	MCF-7	breast:
2	chr1:84718460..84721280-chr1:84722520..84725212,2	MCF-7	breast:
3	chr1:84717533..84719612-chr1:84721999..84724485,2	K562	blood:
4	chr1:84720921..84723664-chr1:84724044..84726966,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10782825	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11163925	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12070215	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12126586	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12134263	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12135635	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12142220	0.82[CEU][hapmap]
rs17131308	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17131371	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs585992	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs600771	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs601301	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs605969	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs606816	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs606904	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs608672	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61766401	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs620856	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs621670	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs621750	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs643521	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs663630	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9943254	0.84[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84714000-84726000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr1:84720000-84725600	Weak transcription	Pancreas	Pancrea
3	chr1:84720600-84727400	Weak transcription	Aorta	Aorta
4	chr1:84721400-84725400	Weak transcription	A549	lung
5	chr1:84721600-84726000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:84721600-84728200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:84723000-84724800	Enhancers	Stomach Smooth Muscle	stomach
8	chr1:84723000-84725400	Enhancers	Fetal Thymus	thymus
9	chr1:84723400-84724400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:84723600-84725600	Weak transcription	Stomach Mucosa	stomach
11	chr1:84723800-84726800	Weak transcription	Gastric	stomach

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