Variant report

Variant	rs72824593
Chromosome Location	chr2:66922868-66922869
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:66922412..66924647-chr2:66925905..66928525,2	MCF-7	breast:
2	chr2:66905064..66907214-chr2:66920521..66923497,2	MCF-7	breast:
3	chr2:66915478..66917082-chr2:66920973..66923826,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232046	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17679928	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56284470	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72824594	0.91[ASN][1000 genomes]
rs72824596	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72826703	0.82[ASN][1000 genomes]
rs72826709	1.00[AFR][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	nsv834248	chr2:66756873-66970378	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012523	chr2:66919704-66961372	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:66919000-66927000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:66919200-66925200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr2:66919200-66927200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:66919200-66929000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:66920400-66925200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:66920400-66927000	Weak transcription	Fetal Intestine Large	intestine
7	chr2:66920600-66925000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:66921000-66923400	Enhancers	Fetal Lung	lung
9	chr2:66921200-66926800	Enhancers	Fetal Kidney	kidney
10	chr2:66921400-66924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:66921400-66924800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:66921400-66925200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:66921400-66925400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:66921400-66927800	Enhancers	Fetal Stomach	stomach
15	chr2:66921600-66923000	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:66921600-66924400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:66921600-66926200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:66921800-66926600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:66922200-66924000	Enhancers	Brain Germinal Matrix	brain
20	chr2:66922200-66924600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:66922400-66924800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:66922800-66923000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:66922800-66923200	Enhancers	Colon Smooth Muscle	Colon
24	chr2:66922800-66923400	Active TSS	Stomach Smooth Muscle	stomach
25	chr2:66922800-66924600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:66922800-66925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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