Variant report

Variant	rs56004152
Chromosome Location	chr1:213104841-213104842
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:213102624..213107243-chr1:213110928..213114834,4	K562	blood:
2	chr1:212782116..212784502-chr1:213104331..213106284,2	K562	blood:
3	chr1:213100809..213102648-chr1:213104742..213106432,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11804466	1.00[ASN][1000 genomes]
rs11807270	1.00[ASN][1000 genomes]
rs11808834	1.00[ASN][1000 genomes]
rs11810592	1.00[ASN][1000 genomes]
rs55675185	1.00[ASN][1000 genomes]
rs57768681	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58153233	1.00[ASN][1000 genomes]
rs58318035	1.00[ASN][1000 genomes]
rs59454401	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59560971	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59694884	1.00[ASN][1000 genomes]
rs60610968	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6684088	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6699046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs74140524	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7518378	1.00[ASN][1000 genomes]
rs7533253	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213102400-213115200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:213102600-213106000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:213102600-213107400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:213102800-213105600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:213102800-213105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:213102800-213107000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:213102800-213107000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:213102800-213107400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:213102800-213116000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:213103000-213107000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:213103000-213110600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:213104000-213105200	Enhancers	Fetal Intestine Large	intestine
13	chr1:213104400-213105200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:213104600-213105000	Enhancers	Fetal Intestine Small	intestine
15	chr1:213104600-213107000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:213104600-213107000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:213104800-213105000	Enhancers	HepG2	liver
18	chr1:213104800-213105200	Active TSS	A549	lung
19	chr1:213104800-213105200	Enhancers	GM12878-XiMat	blood
20	chr1:213104800-213106000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr1:213104800-213106800	Weak transcription	H1 Cell Line	embryonic stem cell

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