Variant report

Variant	rs17119958
Chromosome Location	chr12:58223508-58223509
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58223423-58223756	HepG2	liver:	n/a	n/a
2	POLR2A	chr12:58223102-58223544	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58217743..58220104-chr12:58222008..58224494,2	MCF-7	breast:
2	chr12:58218535..58220523-chr12:58222880..58224447,2	K562	blood:

Variant related genes	Relation type
CTDSP2	TF binding region
ENSG00000207789	Chromatin interaction
ENSG00000175215	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11172322	1.00[MEX][hapmap]
rs11172325	1.00[MEX][hapmap]
rs11172327	0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11172341	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302696	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13353074	1.00[AMR][1000 genomes]
rs8176348	1.00[MEX][hapmap]
rs8176353	0.87[LWK][hapmap];1.00[MEX][hapmap]

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17119958	MEST	trans	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58209400-58226800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:58211200-58223800	Strong transcription	Osteobl	bone
3	chr12:58211400-58224600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:58211400-58224800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:58211600-58224000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:58212000-58224400	Strong transcription	Fetal Intestine Large	intestine
7	chr12:58212000-58224800	Strong transcription	Thymus	Thymus
8	chr12:58212200-58223600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:58212200-58223800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:58212200-58224800	Strong transcription	Brain Germinal Matrix	brain
11	chr12:58212400-58223600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:58212400-58223600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:58212600-58224000	Strong transcription	Fetal Lung	lung
14	chr12:58212600-58224200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:58213400-58224000	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:58213600-58224000	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:58213600-58224400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:58213800-58224000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:58214000-58223800	Strong transcription	Primary B cells from cord blood	blood
20	chr12:58214400-58224000	Strong transcription	Dnd41	blood
21	chr12:58215200-58223800	Strong transcription	GM12878-XiMat	blood
22	chr12:58215400-58227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:58215600-58223600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:58215600-58223800	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:58216200-58223600	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr12:58216200-58223600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:58216200-58223600	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:58216600-58223800	Strong transcription	HSMM	muscle
29	chr12:58217200-58224400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:58217400-58223600	Strong transcription	Fetal Kidney	kidney
31	chr12:58217400-58223800	Strong transcription	HUVEC	blood vessel
32	chr12:58217400-58223800	Strong transcription	NH-A	brain
33	chr12:58217400-58225400	Strong transcription	HepG2	liver
34	chr12:58217600-58223800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr12:58217800-58223600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr12:58220400-58223800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:58220600-58223600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:58220600-58225600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr12:58221000-58223600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:58221000-58224600	Strong transcription	K562	blood
41	chr12:58221400-58224800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr12:58222400-58224400	Genic enhancers	Brain Anterior Caudate	brain
43	chr12:58222400-58224600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:58222600-58223600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:58222600-58223600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:58222600-58223600	Strong transcription	Hela-S3	cervix
47	chr12:58222600-58223800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
48	chr12:58222600-58223800	Genic enhancers	Adipose Nuclei	Adipose
49	chr12:58222600-58223800	Genic enhancers	Brain Substantia Nigra	brain
50	chr12:58222600-58223800	Genic enhancers	Colon Smooth Muscle	Colon

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