Variant report

Variant	rs17010561
Chromosome Location	chr12:83447405-83447406
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83435873..83438111-chr12:83445616..83447681,2	K562	blood:
2	chr12:83432652..83435598-chr12:83445768..83447475,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10466961	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11115463	1.00[CEU][hapmap]
rs11115560	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57914628	0.96[ASN][1000 genomes]
rs60173644	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7962040	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83419000-83468000	Weak transcription	Fetal Stomach	stomach
2	chr12:83423600-83448800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:83434400-83452200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:83436600-83452400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:83436800-83467800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:83437200-83454400	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:83437200-83467800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:83438600-83462400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:83438800-83452200	Weak transcription	Fetal Intestine Large	intestine
10	chr12:83440000-83448200	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:83441000-83447800	Weak transcription	Brain Angular Gyrus	brain
12	chr12:83443400-83451600	Weak transcription	Fetal Kidney	kidney
13	chr12:83443400-83460400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:83443400-83476400	Weak transcription	Fetal Lung	lung
15	chr12:83443800-83452200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:83444400-83449400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr12:83444600-83449600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:83444600-83450400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr12:83445600-83454400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:83446000-83457800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:83446400-83448000	Enhancers	Fetal Heart	heart
22	chr12:83446400-83452200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:83446400-83452600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:83446600-83448000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:83446600-83448200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr12:83446600-83456600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:83446800-83449000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr12:83447000-83451000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr12:83447200-83448800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:83447200-83450400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:83447200-83454600	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:83447400-83448000	Enhancers	K562	blood

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