Variant report

Variant	rs12322132
Chromosome Location	chr12:32659987-32659988
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	chr12:32550963..32552708-chr12:32659377..32661100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139132	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10506090	0.97[AFR][1000 genomes]
rs10771961	0.94[AFR][1000 genomes]
rs10844224	0.91[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs10844232	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11052042	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11052055	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12366886	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17536908	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2036266	0.89[AMR][1000 genomes]
rs2133944	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4105685	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73092002	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73094103	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7953022	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7970857	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7977101	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7980571	0.97[AMR][1000 genomes];0.89[EUR][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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1054191	chr12:32534619-32733066	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv541455	chr12:32534619-32733066	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	esv3342938	chr12:32551041-32716745	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv898970	chr12:32622097-32680236	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32649000-32660800	Weak transcription	Thymus	Thymus
2	chr12:32655200-32661600	Weak transcription	Spleen	Spleen
3	chr12:32655200-32686000	Weak transcription	Lung	lung
4	chr12:32655400-32661000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:32656000-32661000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:32656000-32666000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:32656000-32668000	Weak transcription	Fetal Thymus	thymus
8	chr12:32656200-32662600	Weak transcription	HepG2	liver
9	chr12:32656200-32668000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:32656400-32660000	Enhancers	Fetal Intestine Small	intestine
11	chr12:32656400-32685800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr12:32657000-32661000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:32657000-32661800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:32657200-32662200	Enhancers	Fetal Heart	heart
15	chr12:32657400-32661400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr12:32658400-32660400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:32658400-32660800	Weak transcription	Brain Angular Gyrus	brain
18	chr12:32658400-32660800	Weak transcription	Right Ventricle	heart
19	chr12:32658400-32661000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:32658600-32660800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:32658600-32667800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:32658600-32682000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:32658800-32660800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr12:32659000-32660000	Enhancers	HUVEC	blood vessel
25	chr12:32659000-32660400	Weak transcription	Stomach Mucosa	stomach
26	chr12:32659200-32660400	Weak transcription	Adipose Nuclei	Adipose
27	chr12:32659200-32660800	Weak transcription	Brain Substantia Nigra	brain
28	chr12:32659200-32664400	Weak transcription	NHEK	skin
29	chr12:32659400-32660000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:32659400-32660200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:32659400-32660400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:32659400-32660400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:32659400-32660400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:32659400-32660600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr12:32659400-32660800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:32659400-32665800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:32659400-32667000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:32659600-32660200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr12:32659600-32660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:32659600-32660600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr12:32659600-32660600	Weak transcription	Liver	Liver
42	chr12:32659600-32660600	Weak transcription	Fetal Muscle Leg	muscle
43	chr12:32659600-32660800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:32659600-32660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:32659600-32660800	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:32659600-32660800	Weak transcription	Fetal Brain Female	brain
47	chr12:32659600-32660800	Weak transcription	Left Ventricle	heart
48	chr12:32659600-32660800	Weak transcription	Ovary	ovary
49	chr12:32659600-32660800	Weak transcription	Psoas Muscle	Psoas
50	chr12:32659600-32660800	Weak transcription	Right Atrium	heart

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