Variant report

Variant	rs57976918
Chromosome Location	chr2:31151714-31151715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:31150237..31152939-chr2:31178197..31180643,2	K562	blood:

Variant related genes	Relation type
ENSG00000158089	Chromatin interaction

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

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

rs_ID	r²[population]
rs10175136	1.00[ASN][1000 genomes]
rs10188172	0.95[ASN][1000 genomes]
rs17010473	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs731325	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs73921196	0.86[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	nsv833659	chr2:31020572-31171505	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31122800-31191400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:31127400-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:31130600-31152000	Weak transcription	Fetal Brain Female	brain
4	chr2:31134400-31155600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr2:31141600-31160800	Weak transcription	Lung	lung
6	chr2:31142600-31152400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:31145000-31179800	Weak transcription	Esophagus	oesophagus
8	chr2:31146800-31159800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:31146800-31160600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:31147000-31153600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:31147000-31171000	Weak transcription	A549	lung
12	chr2:31147400-31151800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:31147600-31155800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:31147600-31213000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:31147800-31155400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:31147800-31161000	Weak transcription	Brain Germinal Matrix	brain
17	chr2:31148000-31151800	Weak transcription	HMEC	breast
18	chr2:31148400-31160600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:31149200-31160000	Weak transcription	NHEK	skin
20	chr2:31150800-31152000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:31151000-31151800	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:31151200-31156400	Weak transcription	Spleen	Spleen

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