Variant report

Variant	rs12201170
Chromosome Location	chr6:25866247-25866248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:25861646..25863280-chr6:25865974..25868105,2	K562	blood:
2	chr6:25858832..25860759-chr6:25863922..25867264,3	K562	blood:
3	chr6:25866016..25868205-chr6:25869393..25872170,2	K562	blood:
4	chr6:25864666..25866784-chr6:25991370..25993203,2	K562	blood:

Variant related genes	Relation type
ENSG00000272462	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1165200	0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs12192635	0.81[EUR][1000 genomes]
rs12200962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12209218	0.81[EUR][1000 genomes]
rs12210620	0.81[EUR][1000 genomes]
rs12211184	0.90[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12213243	0.81[EUR][1000 genomes]
rs17270561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17271767	0.82[EUR][1000 genomes]
rs717551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv427747	chr6:25641380-25908218	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
5	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12201170	U91328.19	cis	Artery Tibial	GTEx
rs12201170	U91328.19	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25864200-25866800	Enhancers	Primary hematopoietic stem cells	blood
2	chr6:25865000-25867600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:25865400-25866800	Enhancers	Primary T cells fromperipheralblood	blood
4	chr6:25865400-25866800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:25865400-25866800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr6:25865400-25867000	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr6:25865400-25867400	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr6:25865400-25867400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:25865600-25866600	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr6:25865600-25867000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr6:25865800-25866800	Enhancers	Primary T cells from cord blood	blood
12	chr6:25865800-25866800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:25865800-25866800	Enhancers	Thymus	Thymus
14	chr6:25865800-25867000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr6:25865800-25867600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr6:25866200-25866400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr6:25866200-25866600	Enhancers	Fetal Thymus	thymus
18	chr6:25866200-25866600	Enhancers	Dnd41	blood
19	chr6:25866200-25866800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
20	chr6:25866200-25866800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:25866200-25866800	Enhancers	Stomach Mucosa	stomach
22	chr6:25866200-25866800	Enhancers	K562	blood

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