Variant report

Variant	rs17104263
Chromosome Location	chr12:68096504-68096505
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1420348	1.00[EUR][1000 genomes]
rs1812057	1.00[EUR][1000 genomes]
rs2700086	1.00[EUR][1000 genomes]
rs58620322	1.00[EUR][1000 genomes]
rs61143607	1.00[EUR][1000 genomes]
rs73316764	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74099768	1.00[EUR][1000 genomes]
rs74099769	1.00[EUR][1000 genomes]
rs74099770	1.00[EUR][1000 genomes]
rs74099772	1.00[EUR][1000 genomes]
rs74099786	1.00[EUR][1000 genomes]
rs74099789	1.00[EUR][1000 genomes]
rs74099791	1.00[EUR][1000 genomes]
rs7964985	1.00[EUR][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	esv3430007	chr12:67947726-68241938	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:68072800-68099600	Weak transcription	Fetal Intestine Small	intestine
2	chr12:68083400-68103400	Weak transcription	Pancreas	Pancrea
3	chr12:68088200-68101600	Weak transcription	Left Ventricle	heart
4	chr12:68092800-68098800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:68092800-68099600	Weak transcription	Right Ventricle	heart
6	chr12:68092800-68103800	Weak transcription	Brain Substantia Nigra	brain
7	chr12:68093400-68098200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:68093400-68098400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:68093400-68098600	Weak transcription	Small Intestine	intestine
10	chr12:68093400-68098800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:68093400-68099200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:68093400-68099600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:68093400-68105400	Weak transcription	Right Atrium	heart
14	chr12:68093600-68098600	Weak transcription	Adipose Nuclei	Adipose
15	chr12:68093600-68099000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:68093600-68099200	Weak transcription	HMEC	breast
17	chr12:68093600-68099400	Weak transcription	Aorta	Aorta
18	chr12:68093600-68099600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr12:68093800-68097400	Weak transcription	Primary T cells from cord blood	blood
20	chr12:68093800-68098200	Weak transcription	Psoas Muscle	Psoas
21	chr12:68093800-68098600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:68093800-68099600	Weak transcription	NHEK	skin
23	chr12:68094000-68099600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:68095000-68097000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:68095000-68098800	Weak transcription	Fetal Lung	lung
26	chr12:68095200-68103000	Weak transcription	Fetal Heart	heart
27	chr12:68095400-68099000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:68095600-68098800	Weak transcription	NHDF-Ad	bronchial
29	chr12:68095600-68099000	Weak transcription	NH-A	brain
30	chr12:68095600-68099000	Weak transcription	NHLF	lung
31	chr12:68095800-68098800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:68095800-68098800	Weak transcription	Stomach Mucosa	stomach
33	chr12:68095800-68098800	Weak transcription	Osteobl	bone
34	chr12:68096200-68099000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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