Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:85664864..85667831-chr2:85693184..85696110,2	K562	blood:
2	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
3	chr2:85693140..85697002-chr2:85763876..85768390,8	K562	blood:
4	chr2:85688025..85690495-chr2:85693950..85697263,3	K562	blood:

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11684647	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34619872	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35619560	0.95[ASN][1000 genomes]
rs55846016	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58287896	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72938532	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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	nsv1005351	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
2	nsv535803	chr2:85242657-85774909	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
3	nsv834283	chr2:85609500-85755708	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85684000-85695400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:85684800-85695400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:85687000-85695200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:85687000-85695200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:85687000-85695600	Weak transcription	NHDF-Ad	bronchial
6	chr2:85691400-85695200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:85693400-85701400	Enhancers	Fetal Intestine Small	intestine
8	chr2:85693800-85695000	Weak transcription	Colonic Mucosa	Colon
9	chr2:85693800-85695200	Enhancers	A549	lung
10	chr2:85693800-85695800	Enhancers	Hela-S3	cervix
11	chr2:85694000-85695200	Weak transcription	Small Intestine	intestine
12	chr2:85694200-85695200	Enhancers	HepG2	liver
13	chr2:85694200-85696800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:85694400-85696400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:85694400-85696800	Enhancers	Duodenum Mucosa	Duodenum
16	chr2:85694400-85700600	Enhancers	Fetal Intestine Large	intestine
17	chr2:85694600-85695400	Enhancers	Liver	Liver
18	chr2:85694800-85695200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:85694800-85696200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:85694800-85696600	Enhancers	Stomach Mucosa	stomach

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