Variant report

Variant	rs58808521
Chromosome Location	chr2:172327784-172327785
allele	G/T
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	STAT3	chr2:172327752-172327952	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:172327731-172328322	K562	blood:	n/a	n/a

Variant related genes	Relation type
DCAF17	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10171164	0.87[EUR][1000 genomes]
rs10177689	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186304	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10192493	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10195990	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10198915	0.86[AMR][1000 genomes]
rs10202883	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10210332	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13386613	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13388963	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13395084	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13396824	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402901	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13414723	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13420838	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28608023	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28663293	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4566333	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58367130	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59235233	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59318451	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59449823	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59599047	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60523677	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62181354	0.88[ASN][1000 genomes]
rs6712098	0.87[ASN][1000 genomes]
rs73976149	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73976150	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73976153	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73976158	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73976177	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7580497	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9973419	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9973709	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1832950	chr2:172283513-172488111	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172291800-172338200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr2:172292000-172341600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:172298400-172334400	Weak transcription	Small Intestine	intestine
4	chr2:172298400-172339400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:172298600-172341400	Weak transcription	NHLF	lung
6	chr2:172300600-172338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:172304800-172330000	Weak transcription	NH-A	brain
8	chr2:172304800-172338800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:172306000-172348000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:172306800-172334000	Weak transcription	Psoas Muscle	Psoas
11	chr2:172307800-172341200	Weak transcription	Right Ventricle	heart
12	chr2:172309600-172348400	Weak transcription	Fetal Heart	heart
13	chr2:172313400-172339800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:172315000-172337400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:172315400-172329600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:172322800-172337800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:172323800-172327800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:172324200-172327800	Strong transcription	Primary B cells from cord blood	blood
19	chr2:172324400-172327800	Strong transcription	K562	blood
20	chr2:172324400-172340600	Strong transcription	Primary B cells from peripheral blood	blood
21	chr2:172324600-172338200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr2:172324600-172340000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:172324800-172327800	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:172324800-172328000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:172324800-172334800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:172324800-172334800	Strong transcription	Dnd41	blood
27	chr2:172324800-172337800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:172324800-172340400	Strong transcription	Primary T cells from cord blood	blood
29	chr2:172324800-172341200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:172325000-172328000	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:172325000-172333200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:172325000-172340200	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:172325200-172327800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:172325200-172328400	Strong transcription	Fetal Muscle Leg	muscle
35	chr2:172325200-172328800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:172325200-172329800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr2:172325200-172332200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr2:172325200-172332400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:172325200-172334800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:172325200-172335200	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr2:172325200-172338000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:172325200-172338600	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:172325200-172340000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr2:172325400-172327800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr2:172325400-172327800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr2:172325400-172327800	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr2:172325400-172327800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:172325400-172328000	Strong transcription	Fetal Thymus	thymus
49	chr2:172325400-172328000	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:172325400-172328000	Strong transcription	GM12878-XiMat	blood

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