Variant report

Variant	rs12320859
Chromosome Location	chr12:83405431-83405432
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	chr12:83404495..83407121-chr12:83413024..83415262,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12304449	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs12314132	1.00[YRI][hapmap];0.93[AFR][1000 genomes]

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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83358400-83409200	Weak transcription	Brain Angular Gyrus	brain
2	chr12:83358600-83409400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr12:83375600-83405600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr12:83377600-83409400	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:83377800-83410200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:83378400-83409600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:83378800-83409000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:83380000-83409200	Weak transcription	Gastric	stomach
9	chr12:83390200-83409200	Weak transcription	Pancreas	Pancrea
10	chr12:83392200-83409000	Weak transcription	Stomach Mucosa	stomach
11	chr12:83398000-83409000	Weak transcription	Brain Substantia Nigra	brain
12	chr12:83398000-83409000	Weak transcription	Fetal Heart	heart
13	chr12:83398400-83409600	Weak transcription	Brain Anterior Caudate	brain
14	chr12:83398800-83405800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:83399800-83409400	Weak transcription	Fetal Brain Male	brain
16	chr12:83400200-83409400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr12:83402600-83405600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:83402600-83405600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr12:83404400-83408800	Weak transcription	Fetal Stomach	stomach
20	chr12:83404400-83409400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:83404400-83417200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:83404400-83420800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:83404400-83422000	Weak transcription	Esophagus	oesophagus
24	chr12:83404600-83409200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:83404600-83409400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr12:83404800-83406200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:83404800-83409000	Weak transcription	Fetal Lung	lung
28	chr12:83404800-83409200	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:83404800-83409600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr12:83405000-83436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:83405200-83405600	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr12:83405200-83409000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr12:83405200-83409600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:83405400-83409400	Weak transcription	Colon Smooth Muscle	Colon
35	chr12:83405400-83410400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:83405400-83410600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:83405400-83411200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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