Variant report

Variant	rs557716820
Chromosome Location	chr2:55374644-55374645
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55356561..55359433-chr2:55372018..55374835,2	K562	blood:
2	chr2:55371026..55375430-chr2:55375600..55379751,6	K562	blood:
3	chr2:55366681..55370422-chr2:55372358..55376649,9	K562	blood:
4	chr2:55368832..55370528-chr2:55373910..55375514,2	MCF-7	breast:
5	chr2:55276212..55277768-chr2:55374247..55375833,2	K562	blood:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010438	chr2:55373562-55450144	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55361800-55378600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:55365200-55381000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:55365600-55378600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:55366200-55378600	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:55367200-55378800	Weak transcription	Placenta	Placenta
6	chr2:55367800-55375000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:55369800-55374800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr2:55369800-55378200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr2:55369800-55378600	Weak transcription	Fetal Stomach	stomach
10	chr2:55370000-55375600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:55370000-55379600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:55371600-55382400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:55371800-55375800	Enhancers	K562	blood
14	chr2:55373000-55376000	Enhancers	HSMMtube	muscle
15	chr2:55373400-55381000	Weak transcription	Stomach Mucosa	stomach
16	chr2:55373800-55375000	Weak transcription	NHEK	skin
17	chr2:55373800-55375600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:55373800-55375600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:55373800-55378600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:55374000-55378000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:55374600-55377400	Enhancers	Hela-S3	cervix

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