Variant report

Variant	rs7294381
Chromosome Location	chr12:83292503-83292504
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	chr12:83290340..83292538-chr12:83294393..83296848,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10862517	0.85[CEU][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10862519	0.82[EUR][1000 genomes]
rs10862520	0.81[CHB][hapmap];0.82[GIH][hapmap];0.86[JPT][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs11832145	0.80[MEX][hapmap]
rs1508646	0.89[ASN][1000 genomes]
rs1613988	0.86[AMR][1000 genomes]
rs1703109	0.81[JPT][hapmap];0.84[AMR][1000 genomes]
rs17726837	1.00[LWK][hapmap]
rs2403035	0.85[AMR][1000 genomes]
rs7960995	0.84[MEX][hapmap];0.82[TSI][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	esv2758315	chr12:83101045-83357621	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2759911	chr12:83101045-83357621	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83274400-83304200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:83274600-83298400	Weak transcription	Brain Angular Gyrus	brain
3	chr12:83278200-83313400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:83281000-83306400	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:83282000-83295200	Weak transcription	Fetal Stomach	stomach
7	chr12:83282400-83294600	Weak transcription	Fetal Kidney	kidney
8	chr12:83288400-83304200	Weak transcription	Fetal Muscle Leg	muscle
9	chr12:83289600-83293200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:83289600-83293200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:83290000-83293000	Weak transcription	Ovary	ovary
12	chr12:83290000-83293200	Weak transcription	Esophagus	oesophagus
13	chr12:83290000-83296000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:83290000-83303000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:83290200-83297200	Weak transcription	Gastric	stomach
16	chr12:83290200-83307400	Weak transcription	Brain Anterior Caudate	brain
17	chr12:83290400-83307400	Weak transcription	Fetal Intestine Small	intestine
18	chr12:83290600-83301000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:83290600-83306000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:83291000-83292600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr12:83291000-83304000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:83291200-83293600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:83291200-83298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:83291400-83293200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:83291400-83295000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:83291800-83293200	Enhancers	Fetal Lung	lung
27	chr12:83292000-83292600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr12:83292000-83292800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:83292000-83293200	Enhancers	Stomach Mucosa	stomach
30	chr12:83292200-83293200	Enhancers	Fetal Heart	heart
31	chr12:83292400-83292600	Enhancers	Fetal Brain Female	brain
32	chr12:83292400-83292600	Enhancers	Fetal Intestine Large	intestine
33	chr12:83292400-83293200	Enhancers	Pancreas	Pancrea
34	chr12:83292400-83293200	Strong transcription	Monocytes-CD14+_RO01746	blood

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