Variant report

Variant	rs12308220
Chromosome Location	chr12:117518030-117518031
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117516404..117518439-chr12:117535649..117537690,2	MCF-7	breast:
2	chr12:117517303..117519421-chr12:117527171..117531025,3	K562	blood:
3	chr12:117512300..117515026-chr12:117517081..117519367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088992	Chromatin interaction
ENSG00000258285	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12304249	1.00[AMR][1000 genomes]
rs12311213	1.00[AMR][1000 genomes]
rs12317406	1.00[AMR][1000 genomes]
rs7358631	1.00[AMR][1000 genomes]
rs7955319	1.00[AMR][1000 genomes]
rs7955727	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960239	1.00[AMR][1000 genomes]
rs7963339	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	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117499000-117522000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:117501400-117518600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:117508200-117523200	Weak transcription	Brain Hippocampus Middle	brain
4	chr12:117508600-117520200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr12:117509800-117521000	Weak transcription	A549	lung
6	chr12:117510800-117518600	Weak transcription	Thymus	Thymus
7	chr12:117515000-117518400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:117515000-117518400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:117515000-117524800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:117515200-117518200	Weak transcription	Fetal Thymus	thymus
11	chr12:117515200-117518600	Weak transcription	Left Ventricle	heart
12	chr12:117515200-117518800	Weak transcription	Fetal Kidney	kidney
13	chr12:117515200-117521200	Weak transcription	Fetal Lung	lung
14	chr12:117515200-117521400	Weak transcription	Stomach Mucosa	stomach
15	chr12:117515200-117522400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
17	chr12:117515400-117518200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:117515400-117518200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr12:117515400-117518200	Weak transcription	Fetal Heart	heart
20	chr12:117515400-117518600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:117515400-117520800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr12:117515400-117520800	Weak transcription	Pancreas	Pancrea
23	chr12:117515400-117520800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:117515400-117523000	Weak transcription	Gastric	stomach
25	chr12:117515400-117526400	Weak transcription	Spleen	Spleen
26	chr12:117515400-117528600	Weak transcription	K562	blood
27	chr12:117515600-117518200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:117515600-117518600	Weak transcription	HepG2	liver
29	chr12:117515600-117522200	Weak transcription	Right Ventricle	heart
30	chr12:117515800-117518400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:117517600-117518400	Weak transcription	Dnd41	blood

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