Variant report

Variant	rs72934275
Chromosome Location	chr2:39914505-39914506
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39605627..39608331-chr2:39913842..39916545,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011566	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10187157	1.00[EUR][1000 genomes]
rs17024111	1.00[EUR][1000 genomes]
rs17024114	1.00[EUR][1000 genomes]
rs17024117	1.00[EUR][1000 genomes]
rs4567913	0.81[ASN][1000 genomes]
rs56656371	1.00[EUR][1000 genomes]
rs58032747	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58640385	0.81[ASN][1000 genomes]
rs72934277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7606706	1.00[EUR][1000 genomes]
rs7606718	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	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39905400-39916600	Enhancers	Fetal Heart	heart
2	chr2:39907600-39922200	Weak transcription	HSMM	muscle
3	chr2:39911800-39915000	Enhancers	Right Atrium	heart
4	chr2:39911800-39915800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:39911800-39916200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:39913000-39914800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:39913200-39915600	Weak transcription	Left Ventricle	heart
8	chr2:39913400-39915400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:39913400-39917200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:39913600-39914800	Weak transcription	Brain Germinal Matrix	brain
11	chr2:39913600-39914800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr2:39913800-39914800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:39913800-39916600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:39914000-39915600	Weak transcription	Fetal Brain Female	brain
15	chr2:39914000-39916400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:39914000-39918800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:39914200-39917000	Weak transcription	Aorta	Aorta
18	chr2:39914200-39926800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:39914400-39914600	Enhancers	Lung	lung
20	chr2:39914400-39914800	Enhancers	Brain Angular Gyrus	brain
21	chr2:39914400-39916400	Weak transcription	Brain Anterior Caudate	brain
22	chr2:39914400-39923400	Weak transcription	Fetal Brain Male	brain

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