Variant report

Variant	rs73278299
Chromosome Location	chr12:42418105-42418106
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:42416637..42419148-chr12:42718725..42720773,2	K562	blood:
2	chr12:41340529..41341063-chr12:42417824..42418572,3	MCF-7	breast:
3	chr12:41671648..41672619-chr12:42417775..42418485,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139168	Chromatin interaction
ENSG00000134283	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1234113	1.00[AMR][1000 genomes]
rs1683193	1.00[AMR][1000 genomes]
rs2639125	0.85[AMR][1000 genomes]
rs56669009	1.00[AMR][1000 genomes]
rs56856898	0.85[AMR][1000 genomes]
rs56945323	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57582332	1.00[AMR][1000 genomes]
rs58108857	0.85[AMR][1000 genomes]
rs58417163	1.00[AMR][1000 genomes]
rs59451068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59477321	0.85[AMR][1000 genomes]
rs60327465	1.00[AMR][1000 genomes]
rs60655395	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs712113	1.00[AMR][1000 genomes]
rs712117	1.00[AMR][1000 genomes]
rs712121	1.00[AMR][1000 genomes]
rs712128	1.00[AMR][1000 genomes]
rs7132315	1.00[AMR][1000 genomes]
rs7133783	1.00[AMR][1000 genomes]
rs7298660	1.00[AMR][1000 genomes]
rs73278268	1.00[AMR][1000 genomes]
rs73278270	0.85[AMR][1000 genomes]
rs73278272	1.00[AMR][1000 genomes]
rs73278295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73278298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280038	0.85[AMR][1000 genomes]
rs73280040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280047	1.00[AMR][1000 genomes]
rs73280057	0.85[AMR][1000 genomes]
rs73280063	1.00[AMR][1000 genomes]
rs73280071	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73280079	1.00[AMR][1000 genomes]
rs73280085	1.00[AMR][1000 genomes]
rs73280087	1.00[AMR][1000 genomes]
rs73280101	1.00[AMR][1000 genomes]
rs73281848	1.00[AMR][1000 genomes]
rs73281857	1.00[AMR][1000 genomes]
rs73281868	1.00[AMR][1000 genomes]
rs7954844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960285	1.00[AMR][1000 genomes]
rs850828	1.00[AMR][1000 genomes]
rs864291	1.00[AMR][1000 genomes]
rs864298	1.00[AMR][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	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42417400-42418200	Flanking Active TSS	Brain Germinal Matrix	brain
2	chr12:42417600-42418200	Active TSS	Colon Smooth Muscle	Colon
3	chr12:42417600-42418200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr12:42417600-42418200	Active TSS	Fetal Heart	heart
5	chr12:42417600-42418200	Active TSS	Fetal Lung	lung
6	chr12:42417600-42418200	Active TSS	Right Ventricle	heart
7	chr12:42417600-42418200	Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr12:42417600-42418200	Bivalent/Poised TSS	HSMMtube	muscle
9	chr12:42417600-42418200	Active TSS	NH-A	brain
10	chr12:42417600-42418400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:42417600-42418400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:42417600-42418400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:42417600-42418400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:42417600-42418400	Active TSS	Aorta	Aorta
15	chr12:42417600-42418400	Active TSS	Brain Hippocampus Middle	brain
16	chr12:42417600-42418400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:42417600-42418400	Active TSS	Stomach Smooth Muscle	stomach
18	chr12:42417800-42418200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:42417800-42418200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:42417800-42418200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:42417800-42418200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:42417800-42418200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr12:42417800-42418200	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr12:42417800-42418200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
25	chr12:42417800-42418200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:42417800-42418200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr12:42417800-42418200	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr12:42417800-42418200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr12:42417800-42418200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr12:42417800-42418200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:42417800-42418200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr12:42417800-42418200	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr12:42417800-42418200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr12:42417800-42418200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr12:42417800-42418200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:42417800-42418200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:42417800-42418200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:42417800-42418200	Flanking Active TSS	Liver	Liver
39	chr12:42417800-42418200	Active TSS	Colonic Mucosa	Colon
40	chr12:42417800-42418200	Active TSS	Duodenum Mucosa	Duodenum
41	chr12:42417800-42418200	Active TSS	Fetal Brain Female	brain
42	chr12:42417800-42418200	Active TSS	Fetal Intestine Large	intestine
43	chr12:42417800-42418200	Active TSS	Fetal Kidney	kidney
44	chr12:42417800-42418200	Active TSS	Fetal Muscle Trunk	muscle
45	chr12:42417800-42418200	Enhancers	Fetal Thymus	thymus
46	chr12:42417800-42418200	Active TSS	Left Ventricle	heart
47	chr12:42417800-42418200	Active TSS	Lung	lung
48	chr12:42417800-42418200	Active TSS	Psoas Muscle	Psoas
49	chr12:42417800-42418200	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr12:42417800-42418200	Active TSS	Thymus	Thymus

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