Variant report

Variant	rs17014373
Chromosome Location	chr1:209540330-209540331
allele	A/C
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	TCF12	chr1:209540329-209541328	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:209532175..209545038-chr1:209598052..209610156,35	MCF-7	breast:
2	chr1:209528146..209530754-chr1:209539138..209540797,2	MCF-7	breast:
3	chr1:209527253..209544360-chr1:209599669..209610889,45	MCF-7	breast:
4	chr1:209538239..209540335-chr1:209559472..209561618,2	MCF-7	breast:

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11800822	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17014178	1.00[EUR][1000 genomes]
rs17014186	1.00[EUR][1000 genomes]
rs17014346	0.89[AFR][1000 genomes]
rs17014356	0.89[AFR][1000 genomes]
rs17014360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17014362	0.89[AFR][1000 genomes]
rs17014368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17014409	0.89[AFR][1000 genomes]
rs17014424	0.89[AFR][1000 genomes]
rs17014428	0.89[AFR][1000 genomes]
rs41274824	1.00[EUR][1000 genomes]
rs55892452	1.00[EUR][1000 genomes]
rs74155476	1.00[EUR][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	nsv832481	chr1:209371276-209540333	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:33 , 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	chr1:209535800-209542200	Enhancers	NHEK	skin
5	chr1:209535800-209550800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:209536000-209545200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:209536000-209545600	Enhancers	HMEC	breast
8	chr1:209536800-209540800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:209536800-209548600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:209537600-209548600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:209538000-209543200	Weak transcription	Fetal Thymus	thymus
12	chr1:209538000-209547200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:209538600-209542200	Weak transcription	HSMMtube	muscle
14	chr1:209539800-209543200	Enhancers	NH-A	brain
15	chr1:209539800-209545600	Enhancers	Fetal Brain Male	brain
16	chr1:209540000-209540400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:209540000-209540400	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr1:209540000-209540600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr1:209540000-209540600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:209540000-209541400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:209540000-209542400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:209540000-209542400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:209540000-209542800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr1:209540000-209542800	Enhancers	HSMM	muscle
25	chr1:209540200-209540400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:209540200-209540400	Enhancers	Esophagus	oesophagus
27	chr1:209540200-209540800	Enhancers	Fetal Stomach	stomach
28	chr1:209540200-209541200	Flanking Active TSS	Osteobl	bone
29	chr1:209540200-209542400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:209540200-209543000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:209540200-209543200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:209540200-209543400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:209540200-209544600	Enhancers	Fetal Brain Female	brain

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