Variant report

Variant	rs27463
Chromosome Location	chr5:14214372-14214373
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14139699..14141424-chr5:14213975..14216525,2	MCF-7	breast:
2	chr5:14213925..14215636-chr5:14218273..14221061,2	MCF-7	breast:
3	chr5:14212915..14215891-chr5:14216884..14220454,4	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs149123	0.88[ASN][1000 genomes]
rs151899	0.94[ASN][1000 genomes]
rs151900	0.88[ASN][1000 genomes]
rs151924	0.92[ASN][1000 genomes]
rs164629	0.94[ASN][1000 genomes]
rs171592	0.94[ASN][1000 genomes]
rs245445	0.87[ASN][1000 genomes]
rs248899	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs26114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26136	0.96[ASN][1000 genomes]
rs26137	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs26281	0.92[ASN][1000 genomes]
rs26289	0.84[ASN][1000 genomes]
rs28030	0.88[ASN][1000 genomes]
rs32392	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs32548	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs32549	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs33004	0.92[ASN][1000 genomes]
rs33007	0.92[ASN][1000 genomes]
rs33027	0.81[ASN][1000 genomes]
rs352112	0.95[ASN][1000 genomes]
rs39617	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs544588	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14200600-14217000	Weak transcription	Fetal Brain Male	brain
2	chr5:14203800-14214600	Enhancers	Fetal Thymus	thymus
3	chr5:14204000-14216800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:14205000-14214400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:14205400-14215000	Enhancers	Fetal Intestine Large	intestine
6	chr5:14205400-14216000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:14205400-14218800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:14205600-14216000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:14205800-14215600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:14206800-14218800	Weak transcription	Esophagus	oesophagus
11	chr5:14207600-14214800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:14209000-14214600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:14209000-14218000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:14209200-14214400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:14209200-14214600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr5:14209200-14214600	Enhancers	NHLF	lung
17	chr5:14210200-14216800	Weak transcription	Placenta	Placenta
18	chr5:14210400-14215000	Enhancers	Fetal Intestine Small	intestine
19	chr5:14210400-14216600	Weak transcription	Fetal Stomach	stomach
20	chr5:14210600-14216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:14210600-14216800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:14210600-14217000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:14210600-14217000	Weak transcription	Pancreas	Pancrea
24	chr5:14210600-14217000	Weak transcription	Spleen	Spleen
25	chr5:14211400-14215000	Enhancers	Colon Smooth Muscle	Colon
26	chr5:14211400-14216200	Weak transcription	Hela-S3	cervix
27	chr5:14211800-14214400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:14212000-14214400	Enhancers	HMEC	breast
29	chr5:14212200-14214600	Enhancers	Fetal Lung	lung
30	chr5:14212200-14214800	Enhancers	Liver	Liver
31	chr5:14212200-14216600	Weak transcription	Fetal Brain Female	brain
32	chr5:14212200-14218000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:14212400-14214600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:14212400-14218400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr5:14212400-14219000	Genic enhancers	HSMM	muscle
36	chr5:14212600-14214800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr5:14212600-14215200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr5:14212800-14216800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:14212800-14216800	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:14213000-14214600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:14213000-14216800	Weak transcription	Adipose Nuclei	Adipose
42	chr5:14213000-14223600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:14213200-14214400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:14213200-14214600	Enhancers	Rectal Smooth Muscle	rectum
45	chr5:14213200-14215000	Enhancers	A549	lung
46	chr5:14213200-14215200	Weak transcription	HUVEC	blood vessel
47	chr5:14213200-14215600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:14213200-14216200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:14213200-14216200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:14213200-14216200	Weak transcription	Fetal Heart	heart

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