Variant report

Variant	rs213512
Chromosome Location	chr5:95002121-95002122
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:95000023..95002431-chr5:95132048..95134203,2	K562	blood:
2	chr5:94982380..94983954-chr5:94999874..95002255,2	MCF-7	breast:
3	chr5:94851973..94854960-chr5:95001161..95003587,2	K562	blood:
4	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
5	chr5:95001354..95003054-chr5:95181008..95183990,2	K562	blood:
6	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
7	chr5:95001196..95004141-chr5:95016294..95019056,2	MCF-7	breast:
8	chr5:95000816..95004243-chr5:95066766..95069424,4	MCF-7	breast:
9	chr5:94998665..95005080-chr5:95065235..95073616,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164292	Chromatin interaction
ENSG00000145757	Chromatin interaction
ENSG00000198677	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000250240	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10063774	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12658215	0.81[JPT][hapmap]
rs13166682	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13172592	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13179768	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs150548	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs150549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs150550	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185313	0.81[JPT][hapmap]
rs213507	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs213508	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213509	0.89[CEU][hapmap];0.94[CHB][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213510	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213511	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213880	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213885	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213887	0.92[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.82[JPT][hapmap];0.81[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213888	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2548121	0.81[JPT][hapmap]
rs34901	0.81[JPT][hapmap]
rs411817	0.82[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs412026	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs440342	0.95[CHB][hapmap];0.91[CHD][hapmap];0.93[ASN][1000 genomes]
rs460697	0.81[JPT][hapmap]
rs461873	0.81[JPT][hapmap]
rs4869245	0.85[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.84[GIH][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.89[ASN][1000 genomes]
rs6865873	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6890832	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.93[ASN][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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers 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	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs213512	RHOBTB3	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
3	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
4	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
5	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:94989000-95004800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr5:94991600-95002400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:94991600-95005600	Weak transcription	Fetal Lung	lung
9	chr5:94992000-95004600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:95000400-95003200	Weak transcription	Fetal Stomach	stomach
11	chr5:95000400-95004000	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:95000400-95004200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:95000400-95004200	Weak transcription	HSMM	muscle
14	chr5:95000400-95004600	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:95000400-95004800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:95000400-95005000	Weak transcription	Brain Angular Gyrus	brain
17	chr5:95000400-95005200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr5:95000600-95002400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:95000600-95003000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr5:95000600-95003000	Weak transcription	K562	blood
21	chr5:95000600-95003400	Weak transcription	NHLF	lung
22	chr5:95000600-95004000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:95000600-95004000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:95000600-95004200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:95000600-95004200	Weak transcription	NH-A	brain
26	chr5:95000600-95004200	Weak transcription	NHDF-Ad	bronchial
27	chr5:95000600-95004200	Weak transcription	Osteobl	bone
28	chr5:95000600-95004400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:95000600-95004400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:95000600-95004400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:95000600-95004600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:95000600-95004600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:95000600-95004800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr5:95000600-95004800	Weak transcription	Liver	Liver
35	chr5:95000600-95004800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr5:95000600-95004800	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:95000600-95005000	Weak transcription	Ovary	ovary
38	chr5:95000600-95005200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:95000600-95005200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr5:95000600-95005200	Weak transcription	Fetal Heart	heart
41	chr5:95000800-95005000	Weak transcription	Brain Substantia Nigra	brain
42	chr5:95001000-95004400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:95001200-95004000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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