Variant report

Variant	rs61923119
Chromosome Location	chr12:68573261-68573262
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:68572059..68574722-chr12:68578090..68580668,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11177072	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11177073	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11503734	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12302207	0.82[AFR][1000 genomes]
rs12306852	0.89[EUR][1000 genomes]
rs12307587	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12308338	0.89[EUR][1000 genomes]
rs12310687	0.89[EUR][1000 genomes]
rs12313843	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12318069	0.89[EUR][1000 genomes]
rs12320174	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321504	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12321565	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55881326	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56408274	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60017528	0.88[EUR][1000 genomes]
rs60079212	0.89[EUR][1000 genomes]
rs61923089	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61923118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61923151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7959900	0.89[EUR][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	esv1847952	chr12:68544896-68693242	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr12:68569600-68575000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr12:68570000-68573400	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr12:68570200-68574600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:68570400-68573400	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:68570400-68574600	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:68570400-68575000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr12:68570400-68576200	Enhancers	Primary T cells from cord blood	blood
8	chr12:68570800-68574400	Weak transcription	Primary B cells from cord blood	blood
9	chr12:68570800-68574400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr12:68571200-68574400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:68571400-68574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr12:68572000-68574400	Weak transcription	Fetal Thymus	thymus
13	chr12:68572000-68574400	Weak transcription	Thymus	Thymus
14	chr12:68572200-68574400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:68572200-68574800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:68573000-68574400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:68573000-68574400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:68573200-68574200	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr12:68573200-68574200	Weak transcription	Esophagus	oesophagus
20	chr12:68573200-68574400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:68573200-68574400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:68573200-68575200	Weak transcription	NHEK	skin

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