Variant report

Variant	rs62118294
Chromosome Location	chr2:11678760-11678761
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11269728..11273923-chr2:11678087..11684060,5	MCF-7	breast:
2	chr2:11678223..11684922-chr2:11747400..11752385,8	MCF-7	breast:
3	chr2:11482684..11486384-chr2:11678704..11682899,6	MCF-7	breast:
4	chr2:11678361..11681033-chr2:11884649..11887386,2	MCF-7	breast:
5	chr10:123871436..123873974-chr2:11678144..11680211,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134318	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000230790	Chromatin interaction
ENSG00000138162	Chromatin interaction
ENSG00000265583	Chromatin interaction
ENSG00000145063	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62118293	0.80[ASN][1000 genomes]
rs62118297	0.80[ASN][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	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv873663	chr2:11664349-11783775	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3439617	chr2:11677926-11680474	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	esv3423036	chr2:11678686-11679042	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11671200-11679600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:11671400-11679200	Weak transcription	Right Atrium	heart
3	chr2:11672400-11679400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:11672400-11679800	Enhancers	Pancreas	Pancrea
5	chr2:11672800-11679400	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr2:11673000-11679600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:11673600-11679400	Weak transcription	Brain Angular Gyrus	brain
8	chr2:11673600-11679400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:11673600-11679400	Enhancers	Ovary	ovary
10	chr2:11674000-11679400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:11674400-11679200	Weak transcription	Liver	Liver
12	chr2:11674400-11679200	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:11674600-11679600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:11675400-11679600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:11675400-11679600	Weak transcription	Fetal Heart	heart
16	chr2:11676400-11679200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:11676400-11679200	Weak transcription	Left Ventricle	heart
18	chr2:11676400-11679400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:11676400-11679600	Weak transcription	Psoas Muscle	Psoas
20	chr2:11676400-11681800	Weak transcription	Gastric	stomach
21	chr2:11676800-11679400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:11677600-11679200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:11678000-11683200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr2:11678200-11680000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:11678200-11681000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:11678400-11678800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:11678400-11679200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:11678400-11679200	Enhancers	HepG2	liver
29	chr2:11678400-11679400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:11678400-11679400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:11678400-11679400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:11678400-11757000	Weak transcription	Right Ventricle	heart
33	chr2:11678600-11679000	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr2:11678600-11679000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:11678600-11679000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:11678600-11679200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:11678600-11679600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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