Variant report

Variant	rs56887844
Chromosome Location	chr1:46946688-46946689
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:46941803..46948881-chr1:46990723..46995697,8	K562	blood:
2	chr1:46945298..46948604-chr1:46953497..46956097,3	K562	blood:
3	chr1:46937967..46940531-chr1:46945842..46949034,3	K562	blood:
4	chr1:46945406..46947709-chr1:46983667..46986357,2	K562	blood:
5	chr1:46945158..46947709-chr1:46983421..46985167,2	K562	blood:
6	chr1:46945764..46947413-chr1:47015063..47017944,2	K562	blood:
7	chr1:46946374..46948781-chr1:47004652..47006176,2	MCF-7	breast:
8	chr1:46945138..46947370-chr1:46988064..46989764,2	K562	blood:
9	chr1:46943126..46948119-chr1:46990723..46995697,9	K562	blood:
10	chr1:46946474..46949627-chr1:46956674..46960959,4	K562	blood:
11	chr1:46945870..46948145-chr1:46988064..46989957,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162456	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12059461	1.00[AMR][1000 genomes]
rs57116534	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv1000562	chr1:46832451-47027044	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv534951	chr1:46910546-46948727	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1015045	chr1:46910546-47067492	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv534952	chr1:46910546-47067492	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv1009193	chr1:46939999-47085667	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46933200-46949800	Weak transcription	Pancreas	Pancrea
2	chr1:46933200-46955000	Weak transcription	Right Atrium	heart
3	chr1:46943800-46947000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:46944400-46947000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:46945200-46947000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
6	chr1:46945400-46947200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr1:46945400-46947200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr1:46945400-46947400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:46946000-46947000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
10	chr1:46946000-46947400	Enhancers	Liver	Liver
11	chr1:46946000-46951200	Enhancers	K562	blood
12	chr1:46946200-46947200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:46946400-46947200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr1:46946600-46946800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:46946600-46946800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:46946600-46946800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr1:46946600-46946800	Enhancers	Hela-S3	cervix
18	chr1:46946600-46947200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:46946600-46947200	Bivalent Enhancer	Osteobl	bone
20	chr1:46946600-46947400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:46946600-46947400	Enhancers	Adipose Nuclei	Adipose
22	chr1:46946600-46947600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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