Variant report

Variant	rs7133292
Chromosome Location	chr12:12152291-12152292
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	chr12:12152249..12154243-chr12:12157391..12159272,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10743973	0.82[EUR][1000 genomes]
rs12301073	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1574096	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1806427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488481	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7138656	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7305426	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7956839	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7966813	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7972783	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976590	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv898805	chr12:12119414-12156322	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12146800-12161600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:12148400-12155400	Weak transcription	Right Atrium	heart
3	chr12:12150600-12153200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:12150800-12153000	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr12:12150800-12153000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr12:12150800-12153200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr12:12150800-12153200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:12151000-12153200	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:12151200-12152400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:12151400-12152400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr12:12151600-12152400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:12151600-12152400	Enhancers	HMEC	breast
13	chr12:12151800-12152400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:12151800-12152400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr12:12152000-12152400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:12152000-12152400	Enhancers	Stomach Mucosa	stomach
17	chr12:12152200-12153000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:12152200-12153200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr12:12152200-12156000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:12152200-12160200	Weak transcription	Fetal Thymus	thymus

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