Variant report

Variant	rs4844487
Chromosome Location	chr1:209844892-209844893
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr1:209844465-209844979	U2OS	brain:	n/a	n/a
2	NFIC	chr1:209843434-209845013	ECC-1	luminal epithelium:	n/a	chr1:209844255-209844272

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209844097..209846070-chr1:209847217..209849817,2	K562	blood:
2	chr1:209839113..209843084-chr1:209844641..209848547,5	K562	blood:

Variant related genes	Relation type
G0S2	TF binding region
ENSG00000227591	Chromatin interaction
ENSG00000123689	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4393158	0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6540547	0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6694238	0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs846910	0.83[EUR][1000 genomes]
rs860184	0.89[ASN][1000 genomes]
rs932375	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv3489793	chr1:209844788-209844960	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv3453467	chr1:209844832-209844916	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv3489794	chr1:209844843-209844916	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3453468	chr1:209844847-209844914	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv3489795	chr1:209844847-209844914	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209831400-209846200	Weak transcription	Right Ventricle	heart
2	chr1:209832400-209846600	Weak transcription	Right Atrium	heart
3	chr1:209841600-209846200	Weak transcription	Fetal Intestine Large	intestine
4	chr1:209842800-209845600	Enhancers	Psoas Muscle	Psoas
5	chr1:209843000-209845200	Weak transcription	K562	blood
6	chr1:209843000-209845800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr1:209843400-209848200	Enhancers	HMEC	breast
8	chr1:209843600-209845200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:209843600-209845200	Enhancers	NHEK	skin
10	chr1:209843600-209845400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
11	chr1:209843800-209845200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:209843800-209846400	Enhancers	Liver	Liver
13	chr1:209843800-209848200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:209844000-209845400	Enhancers	Left Ventricle	heart
15	chr1:209844000-209848200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:209844200-209845000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:209844200-209848200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:209844400-209846400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:209844400-209846400	Weak transcription	Pancreas	Pancrea
20	chr1:209844400-209847800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:209844600-209846200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:209844600-209846200	Weak transcription	Small Intestine	intestine
23	chr1:209844600-209846400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:209844600-209846400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:209844600-209846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:209844600-209846400	Enhancers	Adipose Nuclei	Adipose
27	chr1:209844600-209846400	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:209844600-209847400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr1:209844800-209845200	Weak transcription	Fetal Heart	heart
30	chr1:209844800-209846400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr1:209844800-209847200	Enhancers	Hela-S3	cervix

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