Variant report

Variant	rs1703103
Chromosome Location	chr12:83297240-83297241
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1201791	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12299141	1.00[AMR][1000 genomes]
rs1703102	0.88[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	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:22 , 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	chr12:83288400-83304200	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:83290000-83303000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:83290200-83307400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:83290400-83307400	Weak transcription	Fetal Intestine Small	intestine
10	chr12:83290600-83301000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:83290600-83306000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr12:83291000-83304000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:83291200-83298400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:83293200-83298000	Weak transcription	Fetal Lung	lung
15	chr12:83293200-83298600	Weak transcription	Stomach Mucosa	stomach
16	chr12:83293200-83312800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:83293200-83324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr12:83295000-83297400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr12:83296600-83298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:83296600-83304000	Weak transcription	Fetal Stomach	stomach
21	chr12:83296800-83297600	Weak transcription	Brain Germinal Matrix	brain
22	chr12:83297200-83298400	Weak transcription	Monocytes-CD14+_RO01746	blood

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