Variant report

Variant	rs45531233
Chromosome Location	chr14:31087899-31087900
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31080176..31082868-chr14:31086897..31089129,2	MCF-7	breast:
2	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:
3	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092140	Chromatin interaction

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

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

rs_ID	r²[population]
rs17348231	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17348259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17362475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17363198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17433265	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1884582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28483238	1.00[EUR][1000 genomes]
rs58653311	1.00[EUR][1000 genomes]
rs7157286	1.00[EUR][1000 genomes]
rs73253017	1.00[EUR][1000 genomes]
rs73254546	1.00[EUR][1000 genomes]
rs73254548	1.00[EUR][1000 genomes]
rs73254556	1.00[EUR][1000 genomes]
rs73254558	1.00[EUR][1000 genomes]
rs73254560	0.92[EUR][1000 genomes]
rs73254562	1.00[EUR][1000 genomes]
rs73254580	1.00[EUR][1000 genomes]
rs73254586	1.00[EUR][1000 genomes]
rs73254588	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
2	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr14:31069000-31090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:31069000-31090800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr14:31069600-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:31070400-31090600	Weak transcription	Spleen	Spleen
10	chr14:31071000-31090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:31071000-31090600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:31071400-31090200	Weak transcription	Fetal Brain Female	brain
13	chr14:31071400-31090400	Weak transcription	Colonic Mucosa	Colon
14	chr14:31071400-31090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:31072200-31090400	Weak transcription	Aorta	Aorta
16	chr14:31072200-31090400	Weak transcription	Colon Smooth Muscle	Colon
17	chr14:31072400-31090600	Weak transcription	Lung	lung
18	chr14:31073800-31090200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:31073800-31090200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:31073800-31090600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:31074400-31090200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:31074400-31090400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:31074400-31090400	Weak transcription	Fetal Intestine Small	intestine
24	chr14:31074400-31090400	Weak transcription	Fetal Stomach	stomach
25	chr14:31074400-31090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:31074600-31090200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr14:31074800-31090200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr14:31075000-31090200	Weak transcription	Fetal Intestine Large	intestine
29	chr14:31078000-31090400	Weak transcription	Adipose Nuclei	Adipose
30	chr14:31078000-31090400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr14:31078200-31090200	Weak transcription	Psoas Muscle	Psoas
32	chr14:31078200-31090200	Weak transcription	Thymus	Thymus
33	chr14:31078200-31090400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr14:31078200-31090400	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:31078400-31090400	Weak transcription	Fetal Kidney	kidney
36	chr14:31078600-31090200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:31080000-31090400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:31080000-31090600	Weak transcription	Fetal Brain Male	brain
39	chr14:31080200-31090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:31080200-31090400	Weak transcription	Left Ventricle	heart
41	chr14:31080400-31089600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:31080400-31090200	Weak transcription	Fetal Lung	lung
43	chr14:31080400-31090200	Weak transcription	Hela-S3	cervix
44	chr14:31080400-31090400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:31080400-31090400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:31080400-31090400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:31080400-31090400	Weak transcription	Brain Angular Gyrus	brain
48	chr14:31080400-31090400	Weak transcription	Brain Anterior Caudate	brain
49	chr14:31080400-31090400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:31080400-31090400	Weak transcription	Brain Germinal Matrix	brain

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