Variant report

Variant	rs1615115
Chromosome Location	chr11:73838089-73838090
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	chr11:73834019..73836791-chr11:73837212..73839933,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10898954	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1614299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1685326	0.80[ASN][1000 genomes]
rs1726735	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1726744	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1726746	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1726751	0.83[EUR][1000 genomes]
rs1726752	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1726764	0.80[ASN][1000 genomes]
rs1783537	0.81[EUR][1000 genomes]
rs1790381	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1790398	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790399	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1790404	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2007567	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3018184	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4453265	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs474835	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4944036	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944038	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4944878	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs500608	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs575096	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592545	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592551	0.84[EUR][1000 genomes]
rs7121868	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7483884	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs826033	0.90[ASN][1000 genomes]
rs826039	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826056	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs826061	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs826062	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs826066	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[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	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1615115	P4HA3	cis	Thyroid	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
2	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
3	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
4	chr11:73809800-73844400	Weak transcription	HMEC	breast
5	chr11:73809800-73847200	Weak transcription	HepG2	liver
6	chr11:73812000-73849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:73814600-73845400	Weak transcription	Psoas Muscle	Psoas
8	chr11:73816800-73840000	Weak transcription	Fetal Intestine Small	intestine
9	chr11:73816800-73845400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:73817200-73846800	Weak transcription	Spleen	Spleen
11	chr11:73817400-73845400	Weak transcription	NHDF-Ad	bronchial
12	chr11:73817400-73846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:73817600-73842000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:73817600-73842000	Weak transcription	Gastric	stomach
15	chr11:73817600-73845800	Weak transcription	NHEK	skin
16	chr11:73817600-73849200	Weak transcription	NHLF	lung
17	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:73820400-73846400	Weak transcription	Osteobl	bone
19	chr11:73824400-73841200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr11:73824400-73852400	Weak transcription	Colonic Mucosa	Colon
21	chr11:73824600-73840000	Weak transcription	Fetal Intestine Large	intestine
22	chr11:73824600-73846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr11:73825200-73841200	Weak transcription	Brain Germinal Matrix	brain
25	chr11:73825200-73843800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:73825400-73841000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr11:73825400-73844200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr11:73825600-73841400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:73825600-73841600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:73825600-73842400	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr11:73825600-73843000	Weak transcription	Adipose Nuclei	Adipose
32	chr11:73825600-73843400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr11:73825600-73843600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:73825600-73845400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr11:73825600-73846600	Weak transcription	K562	blood
36	chr11:73825600-73847400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:73825800-73841000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:73825800-73841400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:73825800-73842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:73825800-73843400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:73825800-73843400	Weak transcription	GM12878-XiMat	blood
42	chr11:73825800-73843600	Weak transcription	Brain Substantia Nigra	brain
43	chr11:73825800-73844400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr11:73825800-73878600	Weak transcription	Fetal Brain Male	brain
45	chr11:73826000-73839800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:73826000-73841200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr11:73826000-73842000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:73826000-73843400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:73826600-73843400	Weak transcription	Hela-S3	cervix
50	chr11:73827800-73842600	Weak transcription	Primary monocytes fromperipheralblood	blood

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