Variant report

Variant	rs2148079
Chromosome Location	chr13:111191413-111191414
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111189062..111191604-chr13:111205599..111208435,2	MCF-7	breast:
2	chr13:111189757..111192699-chr13:111197488..111200352,2	MCF-7	breast:
3	chr13:111190119..111192322-chr13:111194362..111196366,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs2148080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2391835	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2391836	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2391838	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2391839	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2391840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2391841	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2477910	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2477911	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2479431	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2479434	0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs331596	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs34890574	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35691072	0.90[ASN][1000 genomes]
rs377380	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs394559	0.92[ASN][1000 genomes]
rs4267185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4268628	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4393429	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4448791	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492282	0.92[ASN][1000 genomes]
rs7140104	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7339017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7339377	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9515251	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9515252	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9521823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521824	0.94[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521825	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9521826	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9559839	0.92[ASN][1000 genomes]
rs9588184	0.84[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats 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	28 gene(s)	inside rSNPs	diseases
2	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1046291	chr13:111125747-111257861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1045143	chr13:111126822-111242791	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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	16 gene(s)	inside rSNPs	diseases
5	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
6	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
7	nsv901010	chr13:111165390-111286592	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
11	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	nsv901011	chr13:111168951-111280002	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2148079	RAB20	cis	Thyroid	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111160800-111209600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr13:111182000-111192200	Weak transcription	Fetal Heart	heart
3	chr13:111182200-111193400	Weak transcription	Aorta	Aorta
4	chr13:111182400-111193800	Weak transcription	HepG2	liver
5	chr13:111182400-111203600	Weak transcription	Brain Substantia Nigra	brain
6	chr13:111184000-111193200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:111184000-111199600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:111184000-111211800	Weak transcription	HMEC	breast
9	chr13:111184200-111193200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:111184200-111196400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:111184200-111197000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:111184600-111209800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:111185800-111193600	Weak transcription	Colon Smooth Muscle	Colon
14	chr13:111186400-111193200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:111186600-111192400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr13:111186800-111192200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:111188200-111192600	Enhancers	GM12878-XiMat	blood
18	chr13:111188200-111193200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:111188200-111194000	Weak transcription	Brain Hippocampus Middle	brain
20	chr13:111188400-111191600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:111188400-111191600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr13:111188400-111191800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr13:111188400-111196400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:111188400-111203600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr13:111188600-111193200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr13:111188800-111193200	Weak transcription	Right Atrium	heart
27	chr13:111188800-111193400	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr13:111189000-111193200	Weak transcription	Fetal Stomach	stomach
29	chr13:111189000-111193200	Weak transcription	Right Ventricle	heart
30	chr13:111189000-111193800	Weak transcription	Fetal Intestine Large	intestine
31	chr13:111189000-111198600	Weak transcription	NHLF	lung
32	chr13:111189000-111198800	Weak transcription	Small Intestine	intestine
33	chr13:111189000-111201600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr13:111189600-111191800	Enhancers	Adipose Nuclei	Adipose
35	chr13:111189600-111191800	Enhancers	Colonic Mucosa	Colon
36	chr13:111190000-111193800	Weak transcription	K562	blood
37	chr13:111190200-111193200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr13:111190400-111191800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr13:111190400-111193200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr13:111190400-111193200	Weak transcription	Fetal Intestine Small	intestine
41	chr13:111190400-111199400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr13:111191000-111191600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:111191000-111191600	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr13:111191000-111191800	Enhancers	Stomach Mucosa	stomach
45	chr13:111191200-111191600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr13:111191200-111193200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr13:111191200-111193200	Weak transcription	Liver	Liver
48	chr13:111191200-111193200	Weak transcription	Gastric	stomach
49	chr13:111191200-111193200	Weak transcription	Left Ventricle	heart
50	chr13:111191200-111193400	Weak transcription	Spleen	Spleen

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