Variant report

Variant	rs514459
Chromosome Location	chr2:20985528-20985529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:20980847..20983139-chr2:20984970..20986792,2	K562	blood:
2	chr2:20985087..20987533-chr2:20991199..20993590,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1098155	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12468977	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12472693	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16982026	0.87[LWK][hapmap];0.89[YRI][hapmap]
rs16988063	0.85[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16988078	0.85[EUR][1000 genomes]
rs340604	0.86[YRI][hapmap]
rs340606	0.86[YRI][hapmap]
rs490710	0.83[YRI][hapmap]
rs492399	0.82[YRI][hapmap]
rs518968	0.86[YRI][hapmap]
rs519025	0.86[YRI][hapmap]
rs535022	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs564896	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61662529	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs645150	0.81[YRI][hapmap]
rs649018	0.89[YRI][hapmap]
rs661929	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs666471	0.87[LWK][hapmap];0.93[YRI][hapmap]
rs685246	0.89[YRI][hapmap]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs514459	RHOB	cis	parietal	SCAN
rs514459	C2orf43	Cis_1M	lymphoblastoid	RTeQTL
rs514459	C2orf43	cis	parietal	SCAN
rs514459	C2orf43	cis	Frontal Cortex	GTEx
rs514459	MFSD2B	cis	parietal	SCAN
rs514459	C2orf43	cis	lymphoblastoid	seeQTL
rs514459	GEN1	cis	parietal	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20926400-20995000	Weak transcription	Hela-S3	cervix
2	chr2:20951800-20993200	Weak transcription	Colon Smooth Muscle	Colon
3	chr2:20952800-20990400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:20953000-20989400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr2:20954200-21001200	Weak transcription	NH-A	brain
6	chr2:20957800-20988400	Weak transcription	Left Ventricle	heart
7	chr2:20957800-20988800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:20958600-20995800	Weak transcription	HMEC	breast
9	chr2:20959000-20995400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:20959200-20997000	Weak transcription	Brain Substantia Nigra	brain
11	chr2:20960600-20989200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:20960800-20989000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:20960800-20996200	Weak transcription	HSMMtube	muscle
14	chr2:20964000-20996000	Weak transcription	Osteobl	bone
15	chr2:20965800-20993200	Weak transcription	Fetal Brain Female	brain
16	chr2:20965800-21003400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:20967800-20986400	Weak transcription	Placenta	Placenta
18	chr2:20968000-20988800	Weak transcription	Brain Germinal Matrix	brain
19	chr2:20968200-20988800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:20968400-20988600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr2:20968400-20988800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:20968400-20988800	Weak transcription	Ovary	ovary
23	chr2:20968400-20989000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:20968400-20993800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:20968400-21003000	Weak transcription	Pancreas	Pancrea
26	chr2:20968600-20993600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:20968600-20996200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:20968800-20992600	Weak transcription	Spleen	Spleen
29	chr2:20969000-20986200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:20969000-20988400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:20969000-20988600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:20969000-20994000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:20969000-21003000	Weak transcription	Gastric	stomach
34	chr2:20969200-20988200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr2:20970800-20992800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:20970800-20996400	Weak transcription	Brain Anterior Caudate	brain
37	chr2:20971400-20988800	Weak transcription	Fetal Lung	lung
38	chr2:20972200-20990000	Weak transcription	NHDF-Ad	bronchial
39	chr2:20972600-20988800	Weak transcription	Dnd41	blood
40	chr2:20972800-20987000	Weak transcription	Aorta	Aorta
41	chr2:20972800-20988400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:20972800-20988800	Weak transcription	Lung	lung
43	chr2:20973200-21003000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:20973800-20988400	Weak transcription	Esophagus	oesophagus
45	chr2:20973800-20988400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:20973800-20988800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:20973800-20989000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:20974200-20988200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:20974200-20989000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:20974400-20988600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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