Variant report

Variant	rs73341007
Chromosome Location	chr12:57233578-57233579
allele	A/C
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57228513..57230113-chr12:57232736..57234972,2	MCF-7	breast:
2	chr12:57232006..57233900-chr12:57381486..57383011,2	K562	blood:
3	chr12:57232719..57234859-chr12:57387913..57389787,2	MCF-7	breast:
4	chr12:57232587..57235478-chr12:57391420..57395425,3	MCF-7	breast:
5	chr12:57233578..57234246-chr12:57395048..57395757,2	MCF-7	breast:
6	chr12:57231833..57234361-chr12:57386932..57388503,2	MCF-7	breast:
7	chr12:57156552..57157078-chr12:57233390..57234197,2	MCF-7	breast:
8	chr12:57143341..57145088-chr12:57231516..57233756,2	K562	blood:
9	chr12:57232523..57234649-chr12:57320169..57322431,2	MCF-7	breast:
10	chr12:57226879..57229084-chr12:57231232..57233751,2	MCF-7	breast:
11	chr12:57233379..57233935-chr12:57351193..57351985,2	MCF-7	breast:
12	chr12:57233209..57234233-chr12:57393583..57394857,3	K562	blood:
13	chr12:57233423..57234236-chr12:57399484..57400785,3	K562	blood:
14	chr12:57233059..57234536-chr12:57380344..57382025,8	K562	blood:
15	chr12:57233353..57235203-chr12:57380743..57382388,18	MCF-7	breast:
16	chr12:57232928..57235574-chr12:57379321..57382266,3	MCF-7	breast:
17	chr12:57233430..57234373-chr12:57394911..57395835,6	K562	blood:
18	chr12:57233421..57234366-chr12:57381033..57382023,8	MCF-7	breast:
19	chr12:57233028..57233996-chr12:57382714..57383288,2	K562	blood:
20	chr12:57233493..57234317-chr12:57505766..57506292,2	K562	blood:
21	chr12:57233456..57234396-chr12:57394830..57395497,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166856	Chromatin interaction
ENSG00000166860	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11171953	1.00[AMR][1000 genomes]
rs11171963	1.00[AMR][1000 genomes]
rs11171964	1.00[AMR][1000 genomes]
rs11171969	1.00[AMR][1000 genomes]
rs11514185	1.00[AMR][1000 genomes]
rs12299402	1.00[AMR][1000 genomes]
rs12300453	1.00[AMR][1000 genomes]
rs12306275	1.00[AMR][1000 genomes]
rs12317052	1.00[AMR][1000 genomes]
rs12318649	1.00[AMR][1000 genomes]
rs57173883	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60396573	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73337095	1.00[AMR][1000 genomes]
rs73338912	1.00[AMR][1000 genomes]
rs73338962	1.00[AMR][1000 genomes]
rs73338975	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338977	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73338999	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73341003	0.89[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57227600-57234000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:57229400-57233600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:57229600-57234600	Enhancers	Fetal Lung	lung
4	chr12:57230200-57234600	Enhancers	Liver	Liver
5	chr12:57231000-57233600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:57231000-57235000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:57231000-57235400	Enhancers	HSMM	muscle
8	chr12:57231400-57234000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:57231600-57234800	Weak transcription	Esophagus	oesophagus
10	chr12:57231800-57233600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:57231800-57233600	Weak transcription	Lung	lung
12	chr12:57231800-57233600	Weak transcription	Spleen	Spleen
13	chr12:57231800-57233600	Weak transcription	K562	blood
14	chr12:57231800-57234600	Enhancers	Fetal Kidney	kidney
15	chr12:57231800-57234800	Weak transcription	Placenta	Placenta
16	chr12:57232000-57234800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:57232200-57233600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:57232200-57235200	Enhancers	HSMMtube	muscle
19	chr12:57232400-57234200	Enhancers	Adipose Nuclei	Adipose
20	chr12:57232400-57234200	Enhancers	Fetal Muscle Leg	muscle
21	chr12:57232400-57234400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr12:57232400-57235200	Enhancers	Ovary	ovary
23	chr12:57232600-57233800	Enhancers	Fetal Stomach	stomach
24	chr12:57232600-57235000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:57232600-57235200	Enhancers	Colon Smooth Muscle	Colon
26	chr12:57232800-57233600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:57232800-57234200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:57232800-57234800	Enhancers	HMEC	breast
29	chr12:57232800-57235000	Enhancers	NHEK	skin
30	chr12:57232800-57238400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:57233000-57233600	Weak transcription	Brain Anterior Caudate	brain
32	chr12:57233400-57233600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr12:57233400-57233600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:57233400-57233800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr12:57233400-57234200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:57233400-57234800	Enhancers	Skeletal Muscle Male	skeletal muscle

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