Variant report

Variant	rs12212088
Chromosome Location	chr6:74169716-74169717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr6:74169276-74170145	PBDE	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74163748..74166075-chr6:74168317..74170786,2	K562	blood:
2	chr6:74160266..74162400-chr6:74168144..74170006,2	K562	blood:
3	6:74000304-74012200..6:74160392-74184826	K562	blood:
4	chr6:74169192..74174230-chr6:74229143..74231785,9	K562	blood:
5	chr6:74169360..74174580-chr6:74228668..74231530,6	MCF-7	breast:
6	chr6:74160479..74164788-chr6:74167921..74174562,8	MCF-7	breast:
7	chr6:74160723..74162735-chr6:74167312..74170112,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-975P	TF binding region
MTO1	TF binding region
ENSG00000164430	Chromatin interaction
ENSG00000234882	Chromatin interaction
ENSG00000156508	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10455278	1.00[EUR][1000 genomes]
rs12191034	1.00[AFR][1000 genomes]
rs12198839	1.00[AFR][1000 genomes]
rs12201569	1.00[AFR][1000 genomes]
rs12201895	1.00[EUR][1000 genomes]
rs12204785	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12205147	1.00[AFR][1000 genomes]
rs12205725	1.00[AFR][1000 genomes]
rs12211460	1.00[AFR][1000 genomes]
rs41265519	1.00[AFR][1000 genomes]
rs56164122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56375536	1.00[AFR][1000 genomes]
rs72951364	1.00[AFR][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	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74162200-74170800	Weak transcription	Liver	Liver
2	chr6:74162200-74170800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:74162200-74170800	Weak transcription	Lung	lung
4	chr6:74162400-74169800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr6:74162400-74170800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr6:74162400-74170800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:74162400-74170800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:74162600-74170800	Weak transcription	Osteobl	bone
9	chr6:74162800-74169800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:74164400-74170800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:74164800-74170800	Weak transcription	HMEC	breast
12	chr6:74164800-74171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:74165400-74170800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:74166200-74169800	Weak transcription	K562	blood
15	chr6:74166200-74170600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:74166400-74170600	Weak transcription	Hela-S3	cervix
17	chr6:74166400-74170800	Weak transcription	NHEK	skin
18	chr6:74166600-74170200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr6:74166800-74170000	Weak transcription	HepG2	liver
20	chr6:74166800-74170400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr6:74167800-74170600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:74168000-74170600	Enhancers	Primary T cells fromperipheralblood	blood
23	chr6:74168600-74170600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr6:74168800-74170400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr6:74168800-74170600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr6:74169000-74170200	Enhancers	GM12878-XiMat	blood
27	chr6:74169000-74170800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:74169200-74170000	Enhancers	Brain Hippocampus Middle	brain
29	chr6:74169200-74170600	Enhancers	Primary B cells from peripheral blood	blood
30	chr6:74169200-74170600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:74169200-74170600	Enhancers	Brain Cingulate Gyrus	brain
32	chr6:74169200-74170800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:74169200-74170800	Enhancers	Primary B cells from cord blood	blood
34	chr6:74169200-74170800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr6:74169200-74170800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr6:74169400-74169800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:74169400-74170600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr6:74169400-74170800	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr6:74169400-74170800	Enhancers	Cortex derived primary cultured neurospheres	brain

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