Variant report

Variant	rs11068328
Chromosome Location	chr12:117530436-117530437
allele	C/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	chr12:117517303..117519421-chr12:117527171..117531025,3	K562	blood:
3	chr12:117521637..117523408-chr12:117528244..117530881,2	MCF-7	breast:
4	chr12:117488907..117491503-chr12:117528799..117530966,2	K562	blood:

Variant related genes	Relation type
ENSG00000258285	Chromatin interaction
ENSG00000088992	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11068336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11613558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:117525400-117530800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:117527400-117533200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:117528200-117534600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:117528400-117531400	Enhancers	Stomach Mucosa	stomach
6	chr12:117528400-117534600	Enhancers	Pancreas	Pancrea
7	chr12:117528800-117536000	Weak transcription	Right Atrium	heart
8	chr12:117529000-117530800	Weak transcription	Dnd41	blood
9	chr12:117529200-117534600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:117529400-117531400	Weak transcription	Fetal Heart	heart
11	chr12:117529400-117532600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:117529400-117534800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:117529600-117530600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:117529600-117532400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr12:117529600-117536000	Weak transcription	Lung	lung
16	chr12:117529800-117532600	Enhancers	Gastric	stomach
17	chr12:117529800-117535000	Weak transcription	Spleen	Spleen
18	chr12:117530000-117531600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:117530000-117534400	Weak transcription	A549	lung
20	chr12:117530000-117535000	Weak transcription	K562	blood
21	chr12:117530200-117531200	Weak transcription	Right Ventricle	heart
22	chr12:117530200-117535200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:117530400-117530800	Genic enhancers	HepG2	liver
24	chr12:117530400-117531400	Weak transcription	Left Ventricle	heart
25	chr12:117530400-117532400	Strong transcription	Monocytes-CD14+_RO01746	blood

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