Variant report

Variant	rs11123137
Chromosome Location	chr2:113254146-113254147
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	chr2:113249787..113252523-chr2:113253686..113256564,2	K562	blood:
2	chr2:113249787..113252552-chr2:113252556..113255186,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10153558	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs10153801	0.91[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs1127264	0.91[ASN][1000 genomes]
rs11644	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs11899598	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12465241	0.91[ASN][1000 genomes]
rs12465446	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13030618	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1437673	0.83[CEU][hapmap]
rs1437675	0.86[CEU][hapmap];0.81[CHB][hapmap]
rs1545133	0.82[CEU][hapmap]
rs17043158	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17043167	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28542310	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34082454	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35419160	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3849314	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3910512	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4849073	0.82[CEU][hapmap]
rs4849074	0.82[CEU][hapmap]
rs56010201	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62157527	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6542059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542060	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6542061	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6717635	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6718241	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6718489	1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6760014	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7569407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7580213	0.81[EUR][1000 genomes];0.89[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	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11123137	TTL	cis	Skin Sun Exposed Lower leg	GTEx
rs11123137	RGPD8	cis	Artery Tibial	GTEx
rs11123137	RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL
rs11123137	RGPD4///RGPD5///RGPD6///RGPD8	N/A	lymphoblastoid	RTeQTL
rs11123137	RGPD8	cis	Nerve Tibial	GTEx
rs11123137	RGPD8	cis	Muscle Skeletal	GTEx
rs11123137	RGPD8	cis	lung	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113241000-113277200	Weak transcription	Gastric	stomach
2	chr2:113241000-113277800	Weak transcription	Colonic Mucosa	Colon
3	chr2:113241200-113259600	Weak transcription	Esophagus	oesophagus
4	chr2:113241200-113271600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:113241200-113277800	Weak transcription	Pancreas	Pancrea
6	chr2:113241200-113278000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:113241200-113286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:113241400-113279200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:113241600-113260600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:113241600-113277200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:113241600-113292400	Weak transcription	Small Intestine	intestine
12	chr2:113241800-113257800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:113241800-113286000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:113241800-113286200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:113242000-113259600	Weak transcription	Fetal Heart	heart
16	chr2:113242400-113255600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:113244200-113254200	Strong transcription	Dnd41	blood
18	chr2:113244800-113259600	Weak transcription	GM12878-XiMat	blood
19	chr2:113245800-113277200	Weak transcription	Right Ventricle	heart
20	chr2:113245800-113277200	Weak transcription	Spleen	Spleen
21	chr2:113246200-113271600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:113250600-113256200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:113250800-113254600	Strong transcription	Fetal Thymus	thymus
24	chr2:113251000-113254200	Strong transcription	Fetal Brain Female	brain
25	chr2:113251400-113254200	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr2:113251600-113259600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:113252000-113254200	Strong transcription	HepG2	liver
28	chr2:113252000-113259600	Weak transcription	Placenta	Placenta
29	chr2:113252000-113259600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:113252000-113271600	Weak transcription	Fetal Intestine Small	intestine
31	chr2:113252000-113277800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr2:113252200-113257000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:113252200-113259400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:113252200-113271800	Weak transcription	Hela-S3	cervix
35	chr2:113252200-113272200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr2:113252200-113276600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:113252200-113277800	Weak transcription	Psoas Muscle	Psoas
38	chr2:113252400-113254200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:113252400-113254800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:113252800-113254200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:113252800-113254800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:113252800-113277200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:113253000-113259400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr2:113253000-113259400	Weak transcription	HMEC	breast
45	chr2:113253000-113259600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:113253000-113259600	Weak transcription	Brain Anterior Caudate	brain
47	chr2:113253000-113259600	Weak transcription	Colon Smooth Muscle	Colon
48	chr2:113253000-113259600	Weak transcription	Fetal Lung	lung
49	chr2:113253000-113259600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:113253000-113259600	Weak transcription	NHLF	lung

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