Variant report

Variant	rs10515229
Chromosome Location	chr5:95136019-95136020
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95133829..95136692-chr5:95138240..95141156,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12518592	0.82[EUR][1000 genomes]
rs12522843	1.00[GIH][hapmap];0.94[MKK][hapmap];0.83[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12522899	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41276257	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6894498	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7726424	1.00[MEX][hapmap]
rs871775	1.00[MEX][hapmap]
rs9784676	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1015180	chr5:95134357-95286446	Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10515229	RHOBTB3	cis	lymphoblastoid	seeQTL

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95115400-95137800	Weak transcription	Right Atrium	heart
2	chr5:95115400-95138600	Weak transcription	Gastric	stomach
3	chr5:95115400-95139000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
5	chr5:95117200-95143000	Weak transcription	Primary B cells from cord blood	blood
6	chr5:95117200-95143200	Weak transcription	Primary T cells from cord blood	blood
7	chr5:95117200-95143400	Weak transcription	Thymus	Thymus
8	chr5:95117400-95144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:95120800-95138600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:95120800-95138600	Weak transcription	Psoas Muscle	Psoas
11	chr5:95120800-95143400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr5:95121000-95137600	Weak transcription	Fetal Thymus	thymus
13	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
14	chr5:95124400-95138600	Weak transcription	Right Ventricle	heart
15	chr5:95124400-95143800	Weak transcription	Colon Smooth Muscle	Colon
16	chr5:95124600-95139600	Weak transcription	Fetal Lung	lung
17	chr5:95124600-95143800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr5:95124600-95144000	Weak transcription	Brain Substantia Nigra	brain
19	chr5:95124600-95154400	Weak transcription	Brain Angular Gyrus	brain
20	chr5:95125000-95154400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:95125600-95136800	Weak transcription	Small Intestine	intestine
22	chr5:95125600-95140800	Weak transcription	GM12878-XiMat	blood
23	chr5:95126400-95143600	Weak transcription	Dnd41	blood
24	chr5:95126800-95139000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:95127800-95149200	Weak transcription	Fetal Brain Female	brain
26	chr5:95128000-95136800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr5:95128000-95143600	Weak transcription	Spleen	Spleen
28	chr5:95128000-95143800	Weak transcription	Lung	lung
29	chr5:95129600-95136600	Weak transcription	Pancreas	Pancrea
30	chr5:95129800-95136200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:95129800-95138800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr5:95129800-95140200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:95129800-95143600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr5:95130000-95143600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:95130000-95145000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:95130000-95145000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr5:95130000-95157400	Weak transcription	Ovary	ovary
38	chr5:95130200-95137400	Weak transcription	Fetal Heart	heart
39	chr5:95130200-95138800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:95130200-95140800	Weak transcription	Brain Hippocampus Middle	brain
41	chr5:95130200-95143600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:95130200-95143600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr5:95130200-95143600	Weak transcription	Hela-S3	cervix
44	chr5:95130400-95137000	Weak transcription	Adipose Nuclei	Adipose
45	chr5:95130400-95139000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:95130400-95139000	Weak transcription	NHDF-Ad	bronchial
47	chr5:95130400-95146000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr5:95130600-95138400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:95131600-95138600	Weak transcription	NH-A	brain
50	chr5:95132800-95143600	Weak transcription	Fetal Stomach	stomach

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