Variant report

Variant	rs56966849
Chromosome Location	chr2:85686597-85686598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:85635544..85709381-chr2:85757395..85791508,633	K562	blood:
2	chr2:85685085..85687339-chr2:85695524..85698451,3	K562	blood:
3	chr2:85684397..85686753-chr2:85765401..85767811,2	MCF-7	breast:
4	chr2:85685085..85687339-chr2:85695524..85697541,2	K562	blood:
5	chr2:85609654..85691056-chr2:85759187..85790499,656	K562	blood:
6	chr2:85684691..85688557-chr2:85764007..85767922,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115486	Chromatin interaction
ENSG00000266577	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000118640	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17026358	1.00[AMR][1000 genomes]
rs34757227	1.00[AMR][1000 genomes]
rs57365768	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs57922790	1.00[AMR][1000 genomes]
rs59429327	1.00[AMR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85683800-85686800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:85684000-85688800	Weak transcription	Fetal Intestine Large	intestine
3	chr2:85684000-85689400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:85684000-85695400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:85684200-85687000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:85684800-85695400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:85685200-85686800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:85685200-85687000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:85685200-85687000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:85685200-85687000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:85685200-85687000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:85685400-85687000	Enhancers	K562	blood
13	chr2:85685400-85694400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:85685600-85687000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:85685800-85694200	Weak transcription	Stomach Mucosa	stomach
16	chr2:85686000-85686600	Bivalent Enhancer	HepG2	liver
17	chr2:85686000-85686800	Weak transcription	NHDF-Ad	bronchial
18	chr2:85686000-85687000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:85686000-85687000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:85686000-85687600	Enhancers	Hela-S3	cervix
21	chr2:85686200-85686800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr2:85686200-85687000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:85686200-85687200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:85686400-85686800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:85686400-85689600	Weak transcription	A549	lung

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