Variant report

Variant	rs1796173
Chromosome Location	chr12:83409731-83409732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83409479..83411224-chr12:83411247..83412794,2	K562	blood:
2	chr12:83409329..83411312-chr12:83542800..83545681,4	K562	blood:

Variant related genes	Relation type
ENSG00000213270	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10778921	1.00[MEX][hapmap]
rs1434425	1.00[MEX][hapmap];1.00[YRI][hapmap]
rs1517825	1.00[YRI][hapmap]
rs1612401	1.00[YRI][hapmap]
rs1655609	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1796157	1.00[MEX][hapmap]
rs2046417	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv469490	chr12:83089431-83507269	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv559542	chr12:83089431-83507269	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv832472	chr12:83248283-83419753	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	nsv559557	chr12:83334204-83453620	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
6	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83377800-83410200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:83404400-83417200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:83404400-83420800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:83404400-83422000	Weak transcription	Esophagus	oesophagus
5	chr12:83405000-83436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:83405400-83410400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:83405400-83410600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:83405400-83411200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:83406000-83410400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:83408800-83413400	Enhancers	Fetal Stomach	stomach
11	chr12:83409000-83410600	Enhancers	Stomach Mucosa	stomach
12	chr12:83409000-83411000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:83409000-83411600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr12:83409200-83409800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:83409200-83409800	Enhancers	Gastric	stomach
16	chr12:83409200-83410000	Flanking Active TSS	Hela-S3	cervix
17	chr12:83409200-83410200	Active TSS	Adipose Nuclei	Adipose
18	chr12:83409200-83410400	Flanking Active TSS	Fetal Lung	lung
19	chr12:83409200-83410600	Enhancers	HMEC	breast
20	chr12:83409400-83409800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:83409400-83409800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr12:83409400-83409800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr12:83409400-83409800	Active TSS	Brain Angular Gyrus	brain
24	chr12:83409400-83409800	Flanking Active TSS	Brain Substantia Nigra	brain
25	chr12:83409400-83409800	ZNF genes & repeats	Fetal Brain Male	brain
26	chr12:83409400-83409800	Active TSS	Pancreas	Pancrea
27	chr12:83409400-83409800	Flanking Active TSS	K562	blood
28	chr12:83409400-83409800	Flanking Active TSS	NHLF	lung
29	chr12:83409400-83410000	Flanking Active TSS	NH-A	brain
30	chr12:83409400-83410200	Active TSS	Colon Smooth Muscle	Colon
31	chr12:83409400-83410200	Active TSS	Ovary	ovary
32	chr12:83409400-83410200	Active TSS	Right Atrium	heart
33	chr12:83409400-83410200	Active TSS	Stomach Smooth Muscle	stomach
34	chr12:83409400-83410200	Active TSS	NHDF-Ad	bronchial
35	chr12:83409400-83410400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:83409400-83410400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr12:83409400-83410400	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr12:83409400-83410400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr12:83409400-83410400	Flanking Active TSS	HUVEC	blood vessel
40	chr12:83409400-83410400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr12:83409400-83410400	Enhancers	NHEK	skin
42	chr12:83409400-83410600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:83409400-83411000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr12:83409400-83411200	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr12:83409400-83411600	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:83409600-83409800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr12:83409600-83409800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr12:83409600-83409800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr12:83409600-83409800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:83409600-83409800	Flanking Active TSS	Brain Hippocampus Middle	brain

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