Variant report

Variant	rs12423545
Chromosome Location	chr12:9939224-9939225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9937628..9939734-chr12:9949484..9951679,2	K562	blood:
2	chr12:9928036..9930338-chr12:9937118..9939542,2	K562	blood:
3	chr12:9937824..9939854-chr12:9940356..9942873,2	K562	blood:
4	chr12:9906322..9908011-chr12:9937316..9939333,2	K562	blood:
5	chr12:9901100..9927208-chr12:9932356..9954328,123	K562	blood:

Variant related genes	Relation type
ENSG00000110848	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12423554	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12582052	0.90[AFR][1000 genomes]
rs3136559	0.90[AFR][1000 genomes]
rs4519175	0.90[AFR][1000 genomes]

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	esv3377937	chr12:9938734-9962518	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 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	chr12:9928400-9945400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:9930000-9945400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:9930200-9945800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:9934600-9939800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:9934600-9940000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:9935200-9941200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:9935400-9940400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:9936000-9941000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:9937200-9940600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:9937400-9939800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr12:9937600-9941000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr12:9937800-9940000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:9937800-9941000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr12:9938400-9939600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr12:9938600-9940800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:9938800-9939800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr12:9938800-9939800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:9938800-9939800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:9938800-9939800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:9938800-9940400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:9939000-9945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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