Variant report

Variant	rs12318195
Chromosome Location	chr12:83474053-83474054
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	chr12:83448097..83450387-chr12:83473090..83475396,2	K562	blood:
2	chr12:83473271..83474921-chr12:83479994..83482636,2	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]
rs12322192	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:20 , 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	chr12:83455800-83476200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:83456400-83477200	Weak transcription	Brain Angular Gyrus	brain
5	chr12:83467800-83476600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:83468200-83486000	Weak transcription	Gastric	stomach
7	chr12:83468600-83476000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:83468600-83476400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:83468600-83476600	Weak transcription	Fetal Muscle Leg	muscle
10	chr12:83468600-83502600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr12:83468800-83484400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:83469000-83507600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:83469200-83476000	Weak transcription	Fetal Stomach	stomach
14	chr12:83470200-83475200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:83470400-83476200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:83471000-83476600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr12:83471200-83474600	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:83471200-83476000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:83472400-83482600	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:83473000-83476000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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