Variant report

Variant	rs62116182
Chromosome Location	chr2:11818963-11818964
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	chr2:11815154..11818041-chr2:11818833..11820427,2	MCF-7	breast:
2	chr2:11670570..11676286-chr2:11818745..11824828,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction
ENSG00000196208	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28835360	0.81[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	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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv469449	chr2:11808654-11854012	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv580972	chr2:11808654-11854012	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11816400-11823200	Enhancers	Ovary	ovary
2	chr2:11816600-11819200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr2:11817400-11819000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:11817400-11819000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:11817400-11819600	Weak transcription	Hela-S3	cervix
6	chr2:11817600-11819400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
7	chr2:11817600-11820000	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr2:11817800-11819400	Active TSS	Brain Anterior Caudate	brain
9	chr2:11818000-11821200	Weak transcription	Right Ventricle	heart
10	chr2:11818000-11828200	Weak transcription	Right Atrium	heart
11	chr2:11818200-11822400	Enhancers	Psoas Muscle	Psoas
12	chr2:11818400-11819000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:11818400-11819000	Active TSS	Brain Substantia Nigra	brain
14	chr2:11818400-11828400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:11818400-11828400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:11818600-11819000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:11818600-11820800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:11818600-11822600	Enhancers	Pancreas	Pancrea
19	chr2:11818800-11819000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:11818800-11819000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:11818800-11820400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:11818800-11820400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:11818800-11821800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:11818800-11824000	Weak transcription	Spleen	Spleen

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