Variant report

Variant	rs17671086
Chromosome Location	chr12:48486477-48486478
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48483931..48486907-chr12:48497076..48499177,2	MCF-7	breast:
2	chr12:48479485..48481585-chr12:48483681..48486532,2	K562	blood:
3	chr12:48485766..48487842-chr12:48492763..48495149,2	MCF-7	breast:
4	chr12:48481287..48483908-chr12:48484814..48487764,3	MCF-7	breast:
5	chr12:48485437..48487960-chr12:48549385..48551250,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177981	Chromatin interaction
ENSG00000152556	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11613879	1.00[ASN][1000 genomes]
rs17122571	1.00[ASN][1000 genomes]
rs41291969	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48432200-48498400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:48437200-48489000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:48453000-48498200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:48454000-48494000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:48464600-48489400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:48465000-48487400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:48468600-48498400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:48468800-48498200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:48470200-48497600	Weak transcription	Fetal Heart	heart
10	chr12:48470800-48492800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:48471400-48492000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:48472200-48489400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:48472400-48492000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:48472600-48490200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr12:48472600-48490200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:48472600-48493600	Strong transcription	Fetal Thymus	thymus
17	chr12:48472800-48493800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr12:48473000-48494800	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:48473200-48492000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr12:48473600-48490000	Strong transcription	Primary T cells from cord blood	blood
21	chr12:48473600-48495400	Strong transcription	Dnd41	blood
22	chr12:48473800-48491600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr12:48473800-48492800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:48474000-48493000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:48474000-48494800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:48474600-48492200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:48475000-48498200	Weak transcription	Psoas Muscle	Psoas
28	chr12:48476400-48489400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:48476800-48498400	Weak transcription	Fetal Brain Male	brain
30	chr12:48477200-48498200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:48477400-48491200	Weak transcription	Fetal Kidney	kidney
32	chr12:48477400-48498400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:48477800-48489400	Weak transcription	HSMM	muscle
34	chr12:48478200-48489600	Strong transcription	Fetal Muscle Leg	muscle
35	chr12:48478600-48486800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:48478600-48492200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:48478600-48493600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:48478800-48486800	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:48478800-48489600	Strong transcription	Left Ventricle	heart
40	chr12:48478800-48489800	Strong transcription	Thymus	Thymus
41	chr12:48478800-48490200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:48478800-48492000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:48478800-48492000	Strong transcription	Liver	Liver
44	chr12:48478800-48492200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr12:48479200-48489000	Weak transcription	Colonic Mucosa	Colon
46	chr12:48479400-48487600	Weak transcription	Pancreas	Pancrea
47	chr12:48479400-48488000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:48479400-48498200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:48479400-48498200	Weak transcription	Brain Angular Gyrus	brain
50	chr12:48479400-48498400	Weak transcription	Aorta	Aorta

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