Variant report

Variant	rs17010440
Chromosome Location	chr12:83412225-83412226
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83376935..83379411-chr12:83411296..83413142,2	MCF-7	breast:
2	chr12:83409479..83411224-chr12:83411247..83412794,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17010336	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010346	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55641778	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55815183	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55826920	1.00[ASN][1000 genomes]
rs56119310	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56229537	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133958	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs7304842	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73148411	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73148412	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73148433	0.94[EUR][1000 genomes]
rs73150405	1.00[EUR][1000 genomes]
rs73150413	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73150426	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7964391	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7965674	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968747	1.00[CEU][hapmap];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	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
5	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
6	nsv1047239	chr12:83362299-83444855	Enhancers ZNF genes & repeats Strong transcription Weak 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	chr12:83404400-83417200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:83404400-83420800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:83404400-83422000	Weak transcription	Esophagus	oesophagus
4	chr12:83405000-83436200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:83408800-83413400	Enhancers	Fetal Stomach	stomach
6	chr12:83409600-83412400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:83409800-83412800	Enhancers	Fetal Heart	heart
8	chr12:83409800-83414000	Weak transcription	Fetal Brain Male	brain
9	chr12:83409800-83417200	Weak transcription	Pancreas	Pancrea
10	chr12:83410000-83412400	Enhancers	Fetal Muscle Leg	muscle
11	chr12:83410000-83412600	Enhancers	Rectal Smooth Muscle	rectum
12	chr12:83410400-83412400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:83410400-83412600	Enhancers	Colon Smooth Muscle	Colon
14	chr12:83410600-83413200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:83410600-83421800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:83410800-83412600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr12:83411000-83413400	Weak transcription	NHDF-Ad	bronchial
18	chr12:83411000-83421000	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:83411000-83435800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:83411200-83418400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr12:83411200-83422800	Weak transcription	Brain Anterior Caudate	brain
22	chr12:83411400-83413800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:83411400-83415400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:83411400-83423200	Weak transcription	Stomach Mucosa	stomach
25	chr12:83411600-83412400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:83411600-83413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:83411800-83412400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr12:83412000-83412600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:83412000-83412800	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr12:83412000-83413600	Genic enhancers	Fetal Lung	lung
31	chr12:83412200-83415200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:83412200-83421200	Weak transcription	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links