Variant report

Variant	rs74155471
Chromosome Location	chr1:209543291-209543292
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	MAFK	chr1:209542558-209543324	IMR90	lung:	n/a	n/a
2	NFIC	chr1:209542174-209543308	SK-N-SH	brain:	n/a	n/a
3	E2F4	chr1:209542409-209543545	MCF10A-Er-Src	breast:	n/a	chr1:209542952-209542964 chr1:209542956-209542963 chr1:209542956-209542963 chr1:209542956-209542963 chr1:209542955-209542964

No.	Distal block	Cell Line	Cell type
1	chr1:209532175..209545038-chr1:209598052..209610156,35	MCF-7	breast:
2	chr1:209542346..209543898-chr1:209584985..209586763,2	MCF-7	breast:
3	chr1:209399241..209400998-chr1:209541638..209543398,2	MCF-7	breast:
4	chr1:209535501..209537810-chr1:209541839..209543791,2	K562	blood:
5	chr1:209527253..209544360-chr1:209599669..209610889,45	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231648	TF binding region
ENSG00000230937	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12064516	0.88[EUR][1000 genomes]
rs12116965	0.88[EUR][1000 genomes]
rs12119349	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12119464	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12119465	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12120032	0.92[EUR][1000 genomes]
rs12120757	0.86[EUR][1000 genomes]
rs12121931	0.86[EUR][1000 genomes]
rs12124710	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12125358	0.86[EUR][1000 genomes]
rs12126305	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12126769	0.94[EUR][1000 genomes]
rs12128640	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12135244	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12136870	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12137134	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12137788	0.94[EUR][1000 genomes]
rs12139847	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12140172	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12140436	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12140751	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12144443	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12144663	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12144725	0.85[EUR][1000 genomes]
rs12145008	0.94[EUR][1000 genomes]
rs12145858	0.88[EUR][1000 genomes]
rs6668608	0.94[EUR][1000 genomes]
rs74155466	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74155478	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832492	chr1:209383771-209589312	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3496690	chr1:209541075-209543370	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv3496691	chr1:209541075-209543370	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209526400-209545600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr1:209529800-209547000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:209535400-209543800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:209535800-209550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:209536000-209545200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:209536000-209545600	Enhancers	HMEC	breast
7	chr1:209536800-209548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:209537600-209548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:209538000-209547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr1:209539800-209545600	Enhancers	Fetal Brain Male	brain
11	chr1:209540200-209543400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:209540200-209544600	Enhancers	Fetal Brain Female	brain
13	chr1:209540400-209549200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr1:209540600-209546200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:209541200-209548600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:209542400-209547000	Weak transcription	Esophagus	oesophagus
17	chr1:209542400-209548800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:209542600-209543600	Weak transcription	Fetal Lung	lung
19	chr1:209542600-209548000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:209542600-209549200	Weak transcription	A549	lung
21	chr1:209542800-209543400	Enhancers	Hela-S3	cervix
22	chr1:209543000-209543400	Enhancers	NHEK	skin
23	chr1:209543000-209543400	Enhancers	Osteobl	bone
24	chr1:209543000-209543600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:209543000-209546800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:209543200-209544000	Enhancers	Fetal Thymus	thymus
27	chr1:209543200-209548400	Weak transcription	NHLF	lung
28	chr1:209543200-209548600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:209543200-209548800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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