Variant report

Variant	rs12322192
Chromosome Location	chr12:83476379-83476380
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	chr12:83463428..83465330-chr12:83475810..83477877,2	MCF-7	breast:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12301763	1.00[YRI][hapmap]
rs12317170	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12318195	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83443400-83476400	Weak transcription	Fetal Lung	lung
2	chr12:83455200-83476400	Weak transcription	Fetal Brain Male	brain
3	chr12:83456400-83477200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:83467800-83476600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:83468200-83486000	Weak transcription	Gastric	stomach
6	chr12:83468600-83476400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:83468600-83476600	Weak transcription	Fetal Muscle Leg	muscle
8	chr12:83468600-83502600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:83468800-83484400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:83469000-83507600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:83471000-83476600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:83472400-83482600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr12:83476000-83477000	Enhancers	Colon Smooth Muscle	Colon
14	chr12:83476000-83477000	Enhancers	Fetal Intestine Small	intestine
15	chr12:83476000-83477200	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr12:83476000-83477200	Enhancers	Fetal Heart	heart
17	chr12:83476000-83477400	Enhancers	Rectal Smooth Muscle	rectum
18	chr12:83476000-83477600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:83476000-83477600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr12:83476000-83477600	Enhancers	Fetal Stomach	stomach
21	chr12:83476200-83476400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:83476200-83476600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:83476200-83476800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr12:83476200-83476800	Enhancers	Brain Germinal Matrix	brain
25	chr12:83476200-83477600	Enhancers	HUES48 Cell Line	embryonic stem cell

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