Variant report

Variant	rs12214068
Chromosome Location	chr6:24799278-24799279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:24719711..24722073-chr6:24797818..24801450,3	K562	blood:
2	chr6:24798986..24801269-chr6:24807888..24810303,2	K562	blood:

Variant related genes	Relation type
ENSG00000112308	Chromatin interaction
ENSG00000111913	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1555430	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2064976	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2145752	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2754776	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2754777	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2817728	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2817732	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2817739	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[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	nsv830609	chr6:24712086-24896647	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1022966	chr6:24763776-25154212	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv538160	chr6:24763776-25154212	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv5227	chr6:24774149-24824012	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv508396	chr6:24779648-24846309	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24776400-24803200	Weak transcription	HSMMtube	muscle
2	chr6:24776400-24807400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:24776800-24807600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:24777000-24801200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr6:24777000-24802400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr6:24777000-24805000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr6:24777000-24806200	Weak transcription	Spleen	Spleen
8	chr6:24777000-24808000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr6:24777000-24809400	Weak transcription	Brain Germinal Matrix	brain
10	chr6:24777000-24811600	Weak transcription	Brain Hippocampus Middle	brain
11	chr6:24777000-24847600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr6:24777000-24859600	Weak transcription	Psoas Muscle	Psoas
13	chr6:24777200-24802400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:24777200-24802400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr6:24777600-24802400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr6:24781000-24802400	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr6:24782400-24803000	Weak transcription	Pancreas	Pancrea
18	chr6:24783400-24802000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr6:24783600-24802400	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr6:24785000-24801200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr6:24785000-24802000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr6:24786400-24799800	Weak transcription	Osteobl	bone
23	chr6:24786600-24799600	Weak transcription	Hela-S3	cervix
24	chr6:24787600-24801400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr6:24787600-24806200	Weak transcription	Fetal Stomach	stomach
26	chr6:24787800-24802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr6:24787800-24802600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:24787800-24802600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr6:24788000-24805600	Weak transcription	Fetal Muscle Leg	muscle
30	chr6:24788000-24810200	Weak transcription	Left Ventricle	heart
31	chr6:24788000-24832000	Weak transcription	Brain Substantia Nigra	brain
32	chr6:24788200-24799600	Weak transcription	Liver	Liver
33	chr6:24788200-24802400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:24788600-24800800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr6:24788800-24848200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr6:24789000-24799400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:24789000-24801000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr6:24789000-24802400	Weak transcription	HSMM	muscle
39	chr6:24789000-24807000	Weak transcription	GM12878-XiMat	blood
40	chr6:24789200-24800800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:24789200-24801200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr6:24789200-24805800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:24789200-24807400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:24789200-24842600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr6:24789400-24802000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:24789400-24802000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:24789400-24802400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:24789400-24807400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr6:24789400-24807800	Weak transcription	Dnd41	blood
50	chr6:24789600-24802000	Weak transcription	Fetal Thymus	thymus

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