Variant report

Variant	rs17554748
Chromosome Location	chr2:63925609-63925610
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	STAT3	chr2:63925368-63926565	MCF10A-Er-Src	breast:	n/a	chr2:63926148-63926157 chr2:63925808-63925816
2	FOS	chr2:63925523-63926968	MCF10A-Er-Src	breast:	n/a	chr2:63926149-63926158 chr2:63926147-63926158 chr2:63926148-63926157
3	CEBPB	chr2:63925528-63926574	A549	lung:	n/a	n/a
4	CTCF	chr2:63925540-63925690	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:63925247-63927001	A549	lung:	n/a	chr2:63926368-63926384 chr2:63926367-63926385 chr2:63926369-63926390
6	STAT3	chr2:63925434-63926801	MCF10A-Er-Src	breast:	n/a	chr2:63926148-63926157 chr2:63925808-63925816
7	FOS	chr2:63925466-63927007	MCF10A-Er-Src	breast:	n/a	chr2:63926149-63926158 chr2:63926147-63926158 chr2:63926148-63926157
8	FOS	chr2:63925435-63926997	HUVEC	blood vessel:	n/a	chr2:63926149-63926158 chr2:63926147-63926158 chr2:63926148-63926157
9	SMC3	chr2:63925528-63926790	Hela-S3	cervix:	n/a	chr2:63926369-63926383
10	TCF12	chr2:63925538-63926937	A549	lung:	n/a	n/a
11	STAT3	chr2:63925339-63926722	MCF10A-Er-Src	breast:	n/a	chr2:63926148-63926157 chr2:63925808-63925816
12	FOS	chr2:63925367-63927007	MCF10A-Er-Src	breast:	n/a	chr2:63926149-63926158 chr2:63926147-63926158 chr2:63926148-63926157
13	RAD21	chr2:63925427-63926785	SK-N-SH	brain:	n/a	chr2:63926368-63926387
14	POLR2A	chr2:63925499-63926652	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:63925442..63927694-chr2:64060712..64063478,2	MCF-7	breast:
2	chr2:63924196..63929131-chr2:64067029..64071463,7	MCF-7	breast:
3	chr2:63918680..63921430-chr2:63924139..63927284,3	MCF-7	breast:
4	chr2:63924568..63927226-chr2:64063446..64066245,2	MCF-7	breast:
5	chr2:63924948..63928256-chr2:64067153..64069660,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221085	TF binding region
ENSG00000169764	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs13431437	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17028099	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28838707	1.00[ASN][1000 genomes]
rs3924029	1.00[ASN][1000 genomes]
rs55748575	1.00[ASN][1000 genomes]
rs56342040	1.00[ASN][1000 genomes]
rs57120200	1.00[ASN][1000 genomes]
rs57184962	1.00[ASN][1000 genomes]
rs57329063	1.00[ASN][1000 genomes]
rs57413391	1.00[ASN][1000 genomes]
rs57844293	1.00[ASN][1000 genomes]
rs57877849	1.00[ASN][1000 genomes]
rs58208651	1.00[ASN][1000 genomes]
rs58422338	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58472560	1.00[ASN][1000 genomes]
rs58495096	1.00[ASN][1000 genomes]
rs59540641	1.00[ASN][1000 genomes]
rs62136361	1.00[ASN][1000 genomes]
rs62136364	1.00[ASN][1000 genomes]
rs62136366	1.00[ASN][1000 genomes]
rs62136367	1.00[ASN][1000 genomes]
rs62136369	1.00[ASN][1000 genomes]
rs62136391	1.00[ASN][1000 genomes]
rs62138760	1.00[ASN][1000 genomes]
rs62138819	1.00[ASN][1000 genomes]
rs62138820	1.00[ASN][1000 genomes]
rs62138822	1.00[ASN][1000 genomes]
rs62138823	1.00[ASN][1000 genomes]
rs62138824	1.00[ASN][1000 genomes]
rs6745518	1.00[ASN][1000 genomes]
rs6751397	1.00[ASN][1000 genomes]
rs73937260	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73937264	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73937268	1.00[ASN][1000 genomes]
rs7582457	1.00[ASN][1000 genomes]
rs7601187	1.00[ASN][1000 genomes]
rs7606341	1.00[CHB][hapmap]

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	nsv834242	chr2:63891249-64045617	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63920800-63925800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:63923600-63926000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:63923800-63927200	Enhancers	Liver	Liver
4	chr2:63925400-63925800	Enhancers	A549	lung
5	chr2:63925400-63925800	Enhancers	NHEK	skin
6	chr2:63925400-63926000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:63925400-63926000	Enhancers	HepG2	liver
8	chr2:63925400-63926000	Enhancers	NHDF-Ad	bronchial
9	chr2:63925400-63926200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:63925400-63926400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:63925400-63926400	Enhancers	Dnd41	blood
12	chr2:63925400-63926400	Flanking Active TSS	Hela-S3	cervix
13	chr2:63925400-63926600	Enhancers	H1 Cell Line	embryonic stem cell
14	chr2:63925400-63926600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr2:63925400-63926600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:63925400-63926800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:63925400-63926800	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:63925400-63926800	Enhancers	NH-A	brain
19	chr2:63925400-63927000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr2:63925400-63927200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:63925400-63927200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:63925400-63927200	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:63925400-63927200	Enhancers	HMEC	breast
24	chr2:63925400-63927200	Enhancers	HUVEC	blood vessel
25	chr2:63925400-63927800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:63925600-63925800	Enhancers	Osteobl	bone
27	chr2:63925600-63926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:63925600-63926000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:63925600-63926000	Enhancers	HSMM	muscle
30	chr2:63925600-63926200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:63925600-63926200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:63925600-63926400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:63925600-63926400	Enhancers	Esophagus	oesophagus
34	chr2:63925600-63926600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr2:63925600-63926600	Enhancers	Psoas Muscle	Psoas
36	chr2:63925600-63926800	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr2:63925600-63926800	Enhancers	Adipose Nuclei	Adipose
38	chr2:63925600-63926800	Enhancers	NHLF	lung
39	chr2:63925600-63927200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:63925600-63927200	Enhancers	Sigmoid Colon	Sigmoid Colon

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