Variant report

Variant	rs73323067
Chromosome Location	chr12:64576301-64576302
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:64237199..64239966-chr12:64575764..64577967,3	MCF-7	breast:
2	chr12:64573391..64577314-chr12:64614642..64617588,5	MCF-7	breast:
3	chr12:64237413..64238413-chr12:64575310..64576353,7	MCF-7	breast:
4	chr12:64311062..64313477-chr12:64574443..64577060,2	MCF-7	breast:
5	chr12:64236487..64240653-chr12:64573099..64577184,5	MCF-7	breast:
6	chr12:64566259..64570333-chr12:64574153..64576842,4	MCF-7	breast:
7	chr12:64561013..64563969-chr12:64574388..64576896,2	MCF-7	breast:
8	chr12:64569573..64573901-chr12:64574064..64577068,4	K562	blood:
9	chr12:64570311..64573993-chr12:64574949..64576948,3	MCF-7	breast:
10	chr12:64569573..64571749-chr12:64574064..64576693,2	K562	blood:
11	chr12:64575285..64577484-chr12:64581484..64584031,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243024	Chromatin interaction
ENSG00000196935	Chromatin interaction
ENSG00000174206	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11831818	1.00[AMR][1000 genomes]
rs11834820	1.00[AMR][1000 genomes]
rs35892030	1.00[AMR][1000 genomes]
rs56015728	1.00[AMR][1000 genomes]
rs56684025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57378562	1.00[AMR][1000 genomes]
rs59167764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73311817	1.00[AMR][1000 genomes]
rs73323059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74100222	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv3509287	chr12:64526217-64736995	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3509288	chr12:64526217-64736995	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64567800-64585600	Weak transcription	Fetal Intestine Small	intestine
2	chr12:64570200-64578400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:64573800-64576600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:64573800-64576600	Enhancers	HMEC	breast
5	chr12:64573800-64576600	Enhancers	HSMM	muscle
6	chr12:64573800-64576800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:64574000-64576600	Enhancers	NHEK	skin
8	chr12:64574400-64576400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:64574400-64576600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:64574400-64576600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr12:64574600-64587600	Weak transcription	Left Ventricle	heart
12	chr12:64574600-64597000	Weak transcription	Esophagus	oesophagus
13	chr12:64574800-64586400	Weak transcription	Primary T cells from cord blood	blood
14	chr12:64575000-64615200	Weak transcription	Psoas Muscle	Psoas
15	chr12:64575200-64597000	Weak transcription	Aorta	Aorta
16	chr12:64575400-64576400	Enhancers	HSMMtube	muscle
17	chr12:64575400-64577200	Enhancers	NHDF-Ad	bronchial
18	chr12:64575400-64586000	Weak transcription	Ovary	ovary
19	chr12:64575400-64587600	Weak transcription	Spleen	Spleen
20	chr12:64575400-64590400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:64575600-64576600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:64575600-64576800	Enhancers	HUVEC	blood vessel
23	chr12:64575600-64586200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr12:64575600-64586800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:64575600-64587400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:64575600-64587600	Weak transcription	Brain Angular Gyrus	brain
27	chr12:64575600-64607600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:64575600-64615000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:64575800-64576400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:64575800-64576600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr12:64575800-64576800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr12:64575800-64577000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:64575800-64615200	Weak transcription	Fetal Stomach	stomach
34	chr12:64576000-64576400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr12:64576000-64576400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:64576000-64576800	Enhancers	Hela-S3	cervix
37	chr12:64576000-64581000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:64576000-64587400	Weak transcription	Brain Anterior Caudate	brain
39	chr12:64576000-64587600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:64576000-64587800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:64576000-64597200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:64576000-64615000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:64576200-64576400	Enhancers	A549	lung
44	chr12:64576200-64576400	Enhancers	NH-A	brain
45	chr12:64576200-64576400	Flanking Active TSS	NHLF	lung
46	chr12:64576200-64576600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr12:64576200-64576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:64576200-64576800	Enhancers	Osteobl	bone
49	chr12:64576200-64577000	Enhancers	Muscle Satellite Cultured Cells	--
50	chr12:64576200-64580800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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