Variant report

Variant	rs7959940
Chromosome Location	chr12:117523085-117523086
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117522745..117531514-chr12:117533680..117541602,11	K562	blood:
2	chr12:117521637..117523408-chr12:117528244..117530881,2	MCF-7	breast:
3	chr12:117522325..117524355-chr12:117524708..117526687,2	K562	blood:
4	chr12:117507312..117509184-chr12:117522050..117524792,2	K562	blood:

Variant related genes	Relation type
ENSG00000258285	Chromatin interaction
ENSG00000088992	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10850756	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10850757	1.00[CEU][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068314	1.00[CEU][hapmap];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068322	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11068323	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12366868	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12368978	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12371268	1.00[CEU][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12425876	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12427193	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59191649	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66832675	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67402554	0.86[EUR][1000 genomes];0.88[ASN][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	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117508200-117523200	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:117515000-117524800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
4	chr12:117515400-117526400	Weak transcription	Spleen	Spleen
5	chr12:117515400-117528600	Weak transcription	K562	blood
6	chr12:117520200-117524000	Enhancers	Fetal Heart	heart
7	chr12:117520800-117524000	Enhancers	Pancreas	Pancrea
8	chr12:117520800-117526200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr12:117521000-117527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:117521400-117523400	Weak transcription	Dnd41	blood
11	chr12:117521600-117523200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:117521600-117524800	Weak transcription	A549	lung
13	chr12:117521600-117530400	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr12:117522200-117523600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:117522200-117523600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:117522200-117525200	Enhancers	Left Ventricle	heart
17	chr12:117522200-117525200	Enhancers	Right Ventricle	heart
18	chr12:117522400-117523400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:117522400-117525200	Enhancers	Brain Anterior Caudate	brain
20	chr12:117522400-117527000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr12:117522600-117524000	Enhancers	Fetal Thymus	thymus
22	chr12:117522800-117523400	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr12:117522800-117525000	Genic enhancers	HepG2	liver
24	chr12:117523000-117523200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr12:117523000-117523600	Enhancers	Gastric	stomach
26	chr12:117523000-117524000	Enhancers	Stomach Mucosa	stomach
27	chr12:117523000-117524600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:117523000-117524800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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