Variant report

Variant	rs73340240
Chromosome Location	chr12:58221673-58221674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF3	chr12:58221616-58221706	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:58221567-58221767	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:58220381-58221790	HepG2	liver:	n/a	n/a
4	POLR2A	chr12:58209632-58221838	K562	blood:	n/a	n/a
5	POLR2A	chr12:58221639-58221674	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58185279..58187890-chr12:58221486..58223214,2	K562	blood:
2	chr12:58212149..58213696-chr12:58221268..58222897,2	K562	blood:
3	chr12:58219695..58221744-chr12:58239321..58241689,2	MCF-7	breast:
4	chr12:58210744..58213175-chr12:58220586..58222111,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR26A2	TF binding region
CTDSP2	TF binding region
ENSG00000175215	Chromatin interaction
ENSG00000135407	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs28704571	1.00[AMR][1000 genomes]
rs4760331	1.00[AMR][1000 genomes]
rs56218802	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338256	1.00[AMR][1000 genomes]
rs73340215	1.00[AMR][1000 genomes]
rs73340232	1.00[AMR][1000 genomes]
rs73340266	1.00[AMR][1000 genomes]
rs73340267	1.00[AMR][1000 genomes]
rs73342234	1.00[AMR][1000 genomes]
rs73344379	1.00[AMR][1000 genomes]
rs73344382	1.00[AMR][1000 genomes]
rs73344386	1.00[AMR][1000 genomes]
rs73344388	1.00[AMR][1000 genomes]
rs73346380	1.00[AMR][1000 genomes]
rs73348214	1.00[AMR][1000 genomes]
rs73348217	1.00[AMR][1000 genomes]
rs7956170	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58207800-58222800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:58209400-58226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:58211200-58223800	Strong transcription	Osteobl	bone
4	chr12:58211400-58224600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:58211400-58224800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:58211600-58222800	Strong transcription	Fetal Stomach	stomach
7	chr12:58211600-58224000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:58212000-58222600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:58212000-58222800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:58212000-58224400	Strong transcription	Fetal Intestine Large	intestine
11	chr12:58212000-58224800	Strong transcription	Thymus	Thymus
12	chr12:58212200-58222800	Strong transcription	Fetal Intestine Small	intestine
13	chr12:58212200-58223600	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:58212200-58223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:58212200-58224800	Strong transcription	Brain Germinal Matrix	brain
16	chr12:58212400-58222600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr12:58212400-58222600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:58212400-58222800	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:58212400-58222800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:58212400-58223600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:58212400-58223600	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:58212600-58222800	Strong transcription	Brain Cingulate Gyrus	brain
23	chr12:58212600-58223200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr12:58212600-58224000	Strong transcription	Fetal Lung	lung
25	chr12:58212600-58224200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:58213000-58222000	Strong transcription	Brain Substantia Nigra	brain
27	chr12:58213000-58223200	Strong transcription	NHLF	lung
28	chr12:58213000-58223400	Strong transcription	Fetal Brain Female	brain
29	chr12:58213200-58222800	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:58213400-58223000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:58213400-58223000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:58213400-58223000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr12:58213400-58223200	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr12:58213400-58224000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:58213600-58223000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:58213600-58224000	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:58213600-58224400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:58213800-58222400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:58213800-58224000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:58214000-58222600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr12:58214000-58222800	Strong transcription	Brain Hippocampus Middle	brain
42	chr12:58214000-58223000	Strong transcription	Brain Angular Gyrus	brain
43	chr12:58214000-58223800	Strong transcription	Primary B cells from cord blood	blood
44	chr12:58214200-58223000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr12:58214400-58223000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:58214400-58223200	Strong transcription	Primary T cells from cord blood	blood
47	chr12:58214400-58223200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr12:58214400-58224000	Strong transcription	Dnd41	blood
49	chr12:58214800-58222600	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:58215000-58222800	Strong transcription	Primary B cells from peripheral blood	blood

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