Variant report

Variant	rs17192938
Chromosome Location	chr12:104480492-104480493
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104458144..104460180-chr12:104477889..104480758,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000111727	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17193036	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17193064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17193219	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17805891	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806516	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4257050	1.00[CHB][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59714382	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61440530	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs61610230	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73390481	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7979713	0.81[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	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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104459200-104480600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:104459200-104480600	Weak transcription	Esophagus	oesophagus
3	chr12:104459600-104481200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:104459800-104491800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:104460000-104482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:104460000-104496800	Weak transcription	HepG2	liver
7	chr12:104460000-104511800	Weak transcription	Hela-S3	cervix
8	chr12:104460000-104526200	Weak transcription	Colonic Mucosa	Colon
9	chr12:104460600-104480600	Weak transcription	K562	blood
10	chr12:104461200-104492800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:104466000-104480600	Weak transcription	Stomach Mucosa	stomach
12	chr12:104470600-104486200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:104471000-104499600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr12:104471400-104500000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:104472000-104497400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:104472400-104486200	Strong transcription	Fetal Muscle Trunk	muscle
17	chr12:104472400-104497400	Strong transcription	Placenta	Placenta
18	chr12:104472400-104501200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:104472600-104480800	Strong transcription	Primary T cells from cord blood	blood
20	chr12:104472600-104485400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr12:104472600-104485800	Strong transcription	Dnd41	blood
22	chr12:104472600-104497200	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:104472800-104485000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:104474400-104485800	Strong transcription	Osteobl	bone
25	chr12:104475000-104485000	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:104475800-104489400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr12:104476200-104485400	Strong transcription	HSMM	muscle
28	chr12:104476200-104497400	Strong transcription	Adipose Nuclei	Adipose
29	chr12:104476400-104481800	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr12:104476600-104482600	Strong transcription	Fetal Brain Male	brain
31	chr12:104476600-104484400	Strong transcription	Brain Germinal Matrix	brain
32	chr12:104476600-104485200	Strong transcription	Fetal Brain Female	brain
33	chr12:104476600-104486200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:104476600-104488200	Strong transcription	Fetal Lung	lung
35	chr12:104477000-104486200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:104477200-104480600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:104477200-104480600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr12:104477200-104481800	Weak transcription	HMEC	breast
39	chr12:104477200-104508400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr12:104477400-104480600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:104477400-104480600	Weak transcription	Brain Angular Gyrus	brain
42	chr12:104477400-104481200	Weak transcription	NH-A	brain
43	chr12:104478000-104481200	Weak transcription	Brain Substantia Nigra	brain
44	chr12:104478200-104480600	Weak transcription	Gastric	stomach
45	chr12:104478200-104481400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr12:104478200-104482800	Weak transcription	Pancreas	Pancrea
47	chr12:104478200-104492800	Weak transcription	NHEK	skin
48	chr12:104478400-104480600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr12:104478400-104480600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:104478400-104480600	Weak transcription	Aorta	Aorta

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