Variant report

Variant	rs213508
Chromosome Location	chr5:94988482-94988483
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:94988460-94988610	HPF	lung:	n/a	n/a
2	POLR2A	chr5:94986810-94989344	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
2	chr5:94986771..94989176-chr5:94992934..94994549,2	MCF-7	breast:
3	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
4	chr5:94890206..94891833-chr5:94987250..94989208,2	K562	blood:
5	chr5:94985102..94989085-chr5:95082725..95085350,5	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR150-1	chr5:94987841-94988519	NONHSAT102853
2	lnc-GPR150-1	chr5:94987841-94988567	NONHSAT102854

No data

Variant related genes	Relation type
RFESD	TF binding region
ENSG00000164292	Chromatin interaction
ENSG00000164291	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000175449	Chromatin interaction
ENSG00000198677	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10063774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13166682	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13172592	0.97[ASN][1000 genomes]
rs13179768	0.96[ASN][1000 genomes]
rs150548	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs150549	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs150550	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213507	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs213509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213510	0.87[CEU][hapmap];0.95[CHB][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213511	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213512	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]
rs213880	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs213885	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs213888	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411817	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs412026	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs440342	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4869245	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6865873	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6890832	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv598960	chr5:94975592-94988482	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs213508	RHOBTB3	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94983200-95005000	Weak transcription	Left Ventricle	heart
2	chr5:94983400-94990200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr5:94983400-95005000	Weak transcription	Placenta	Placenta
4	chr5:94983600-94991000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:94983600-94991000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:94983600-94991000	Weak transcription	Thymus	Thymus
7	chr5:94983600-94999800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:94983600-95000000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:94983600-95000000	Weak transcription	Brain Hippocampus Middle	brain
10	chr5:94983600-95000200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:94983600-95005000	Weak transcription	Adipose Nuclei	Adipose
12	chr5:94983800-94990200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:94983800-94990200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:94983800-94991000	Weak transcription	Fetal Thymus	thymus
15	chr5:94983800-94991200	Weak transcription	Fetal Lung	lung
16	chr5:94983800-94999800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:94983800-94999800	Weak transcription	Colon Smooth Muscle	Colon
18	chr5:94983800-95000000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr5:94983800-95004800	Weak transcription	Psoas Muscle	Psoas
20	chr5:94984200-94988600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr5:94984200-94990800	Weak transcription	Fetal Heart	heart
22	chr5:94984200-94991400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:94984200-94999800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:94984200-94999800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:94984200-95007800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr5:94984400-94988600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:94984600-94991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:94984600-94992600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr5:94984600-94999800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:94985200-94991000	Weak transcription	Dnd41	blood
31	chr5:94985400-94988600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr5:94987600-94989200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:94987800-94989400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:94987800-94990000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr5:94987800-94990400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr5:94987800-94992200	Strong transcription	Primary T cells from cord blood	blood
37	chr5:94988000-94988600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr5:94988000-94989000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr5:94988000-94989000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:94988000-94989400	Genic enhancers	K562	blood
41	chr5:94988000-94991600	Strong transcription	Primary B cells from cord blood	blood
42	chr5:94988400-94989000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:94988400-94989000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr5:94988400-94989000	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr5:94988400-94989200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:94988400-94989400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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