Variant report

Variant	rs12316603
Chromosome Location	chr12:83306650-83306651
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83302739..83305920-chr12:83306463..83310168,4	MCF-7	breast:
2	chr12:83305903..83307525-chr12:83309083..83310655,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17010168	0.87[ASN][1000 genomes]
rs58479141	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73360300	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73362203	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73362225	0.87[ASN][1000 genomes]
rs9308328	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83278200-83313400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:83279000-83336400	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr12:83290200-83307400	Weak transcription	Brain Anterior Caudate	brain
4	chr12:83290400-83307400	Weak transcription	Fetal Intestine Small	intestine
5	chr12:83293200-83312800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:83293200-83324200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:83298000-83306800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:83298400-83307200	Weak transcription	Fetal Lung	lung
9	chr12:83299200-83313000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr12:83303800-83313200	Weak transcription	Brain Substantia Nigra	brain
11	chr12:83304400-83307800	Weak transcription	Fetal Heart	heart
12	chr12:83304400-83310600	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:83304400-83313200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr12:83304600-83313600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:83305200-83307200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr12:83305800-83336800	Weak transcription	Fetal Stomach	stomach
17	chr12:83306000-83306800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr12:83306000-83307200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:83306400-83306800	Enhancers	NHEK	skin
20	chr12:83306600-83307600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:83306600-83316800	Weak transcription	Colon Smooth Muscle	Colon

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