Variant report

Variant	rs72960478
Chromosome Location	chr1:94568160-94568161
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94528533..94530442-chr1:94567755..94569846,3	MCF-7	breast:
2	chr1:94532586..94535624-chr1:94566931..94569461,4	MCF-7	breast:
3	chr1:94567418..94570803-chr1:94581520..94584135,4	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4147813	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs571095	0.87[ASN][1000 genomes]
rs7524782	0.87[AMR][1000 genomes]
rs7531875	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871057	chr1:94513142-94577286	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871558	chr1:94544276-94576968	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv870555	chr1:94545160-94577744	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
4	esv1807674	chr1:94549175-94588191	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94555600-94570000	Enhancers	Fetal Thymus	thymus
2	chr1:94558200-94573000	Weak transcription	Spleen	Spleen
3	chr1:94560800-94570000	Weak transcription	Pancreas	Pancrea
4	chr1:94560800-94570800	Weak transcription	Thymus	Thymus
5	chr1:94561200-94568800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:94561200-94569800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:94561200-94570400	Weak transcription	Dnd41	blood
8	chr1:94561600-94571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:94563200-94570000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:94564000-94572600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:94564200-94573000	Enhancers	Placenta Amnion	Placenta Amnion
12	chr1:94564600-94570000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:94564600-94570400	Weak transcription	Left Ventricle	heart
14	chr1:94564600-94573600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:94564600-94591800	Weak transcription	Right Atrium	heart
16	chr1:94564800-94577400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:94565000-94570600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:94565200-94570400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:94565400-94572400	Enhancers	Placenta	Placenta
20	chr1:94566200-94568200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:94566200-94571800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:94566800-94570400	Weak transcription	A549	lung
23	chr1:94567200-94570200	Enhancers	NHEK	skin
24	chr1:94567200-94570400	Weak transcription	Fetal Lung	lung
25	chr1:94567200-94570800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:94567200-94571600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:94567400-94570000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr1:94567400-94585400	Weak transcription	Brain Anterior Caudate	brain
29	chr1:94567600-94568200	Enhancers	Primary hematopoietic stem cells	blood
30	chr1:94567600-94568200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:94567600-94568400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:94567600-94568800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:94567600-94570000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:94567800-94568800	Weak transcription	HMEC	breast
35	chr1:94568000-94568400	Weak transcription	Fetal Kidney	kidney

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