Variant report

Variant	rs73390494
Chromosome Location	chr12:104488925-104488926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104486649..104489523-chr12:104530965..104532834,2	MCF-7	breast:
2	chr12:104487179..104490226-chr12:104527814..104531447,3	K562	blood:
3	chr12:104483665..104486447-chr12:104488315..104490408,3	K562	blood:
4	chr12:104486963..104489819-chr12:104491928..104495052,4	K562	blood:
5	chr12:104323388..104326351-chr12:104487928..104489708,2	K562	blood:
6	chr12:104488622..104491408-chr12:104513242..104515456,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214198	Chromatin interaction
ENSG00000265072	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17035201	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58005041	1.00[AMR][1000 genomes]
rs73390482	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73390498	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73392510	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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104460000-104496800	Weak transcription	HepG2	liver
3	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
4	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
5	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:104472400-104497400	Strong transcription	Placenta	Placenta
10	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:104472600-104497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr12:104475800-104489400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr12:104476200-104497400	Strong transcription	Adipose Nuclei	Adipose
14	chr12:104477200-104508400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:104478200-104492800	Weak transcription	NHEK	skin
16	chr12:104478400-104492800	Weak transcription	Spleen	Spleen
17	chr12:104478600-104499400	Weak transcription	Fetal Heart	heart
18	chr12:104479600-104489000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:104480000-104508400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr12:104480600-104489600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr12:104480600-104497600	Strong transcription	Duodenum Smooth Muscle	Duodenum
22	chr12:104481000-104495000	Weak transcription	Esophagus	oesophagus
23	chr12:104481000-104499400	Weak transcription	Stomach Mucosa	stomach
24	chr12:104481000-104500800	Weak transcription	K562	blood
25	chr12:104481200-104492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:104482200-104490800	Weak transcription	Brain Angular Gyrus	brain
27	chr12:104482400-104490000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:104482400-104493000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:104482600-104491800	Weak transcription	Fetal Kidney	kidney
30	chr12:104482600-104492800	Weak transcription	Fetal Brain Male	brain
31	chr12:104482800-104492400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:104482800-104508200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:104483000-104490200	Weak transcription	GM12878-XiMat	blood
34	chr12:104483000-104491800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr12:104483200-104490200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:104483200-104491800	Weak transcription	Lung	lung
37	chr12:104483200-104492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:104483200-104492800	Weak transcription	Gastric	stomach
39	chr12:104483200-104492800	Weak transcription	Pancreas	Pancrea
40	chr12:104483400-104491800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:104483400-104492400	Weak transcription	Fetal Intestine Small	intestine
42	chr12:104483400-104492800	Weak transcription	A549	lung
43	chr12:104483600-104490000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:104483600-104491800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:104483600-104491800	Weak transcription	Right Ventricle	heart
46	chr12:104483800-104492800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr12:104483800-104493000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr12:104485000-104489400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr12:104485000-104491600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:104485000-104500800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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