Variant report

Variant	rs60058224
Chromosome Location	chr12:12178932-12178933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10845451	0.98[ASN][1000 genomes]
rs10845452	0.98[ASN][1000 genomes]
rs10845453	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11054616	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11054619	0.98[ASN][1000 genomes]
rs12146841	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12425503	0.91[EUR][1000 genomes]
rs12426754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28720964	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57170747	0.83[AFR][1000 genomes]
rs59213608	0.98[ASN][1000 genomes]
rs61086864	0.86[AFR][1000 genomes]
rs73285710	0.81[AFR][1000 genomes]
rs73285715	0.86[AFR][1000 genomes]
rs73285722	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73285733	0.81[AFR][1000 genomes];0.90[EUR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12164800-12179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12170800-12179200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:12171200-12185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr12:12171400-12185200	Weak transcription	Spleen	Spleen
5	chr12:12171800-12185000	Weak transcription	Esophagus	oesophagus
6	chr12:12172200-12184600	Weak transcription	Thymus	Thymus
7	chr12:12175400-12179000	Enhancers	Fetal Thymus	thymus
8	chr12:12175600-12185400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:12176400-12179200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:12176600-12179000	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:12176600-12179000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:12177000-12179000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr12:12177200-12179000	Enhancers	Duodenum Mucosa	Duodenum
14	chr12:12177600-12179200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:12177600-12179600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr12:12177800-12179000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:12178000-12179000	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr12:12178400-12179000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:12178400-12179000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:12178400-12179000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:12178400-12179000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:12178400-12179000	Enhancers	Fetal Intestine Large	intestine
23	chr12:12178400-12179200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:12178400-12180000	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr12:12178400-12180400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:12178400-12185200	Weak transcription	Small Intestine	intestine
27	chr12:12178400-12185400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:12178600-12179000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr12:12178800-12181000	ZNF genes & repeats	GM12878-XiMat	blood

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