Variant report

Variant	rs62183775
Chromosome Location	chr2:172857928-172857929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172856619..172859628-chr2:172864292..172866200,3	MCF-7	breast:
2	chr2:172822392..172824511-chr2:172856207..172858806,2	K562	blood:
3	chr2:172842087..172844341-chr2:172857534..172860058,2	K562	blood:
4	chr2:172857904..172859439-chr2:172876035..172878668,2	K562	blood:
5	chr2:172854755..172858699-chr2:172956896..172962268,5	MCF-7	breast:
6	chr2:172855091..172858063-chr2:172947912..172950792,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144355	Chromatin interaction
ENSG00000115840	Chromatin interaction
ENSG00000172878	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs62182434	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62182441	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62183764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62183774	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62183802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172813000-172859200	Weak transcription	Fetal Brain Male	brain
3	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:172847400-172864000	Weak transcription	HSMM	muscle
5	chr2:172848000-172863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:172849600-172863800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:172850400-172860600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:172856600-172863200	Weak transcription	K562	blood
9	chr2:172857400-172858000	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:172857400-172858800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:172857600-172858000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:172857600-172858000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:172857600-172858000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:172857600-172858000	Enhancers	Ovary	ovary
15	chr2:172857600-172858400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:172857800-172858000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:172857800-172858000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:172857800-172858000	Enhancers	Brain Anterior Caudate	brain
19	chr2:172857800-172858000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr2:172857800-172858200	Enhancers	Brain Hippocampus Middle	brain

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