Variant report

Variant	rs17211115
Chromosome Location	chr11:86267633-86267634
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	chr11:86165495..86167878-chr11:86266316..86268174,2	MCF-7	breast:
2	chr11:86224603..86226586-chr11:86265087..86268010,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10792857	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs10792858	0.80[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10898500	0.94[ASN][1000 genomes]
rs10898501	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs11234691	0.92[CEU][hapmap];0.83[TSI][hapmap];0.84[EUR][1000 genomes]
rs12287767	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1350478	0.83[CHB][hapmap]
rs1458382	0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1945036	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs1945143	0.92[CEU][hapmap]
rs1945146	0.90[MEX][hapmap]
rs4144867	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs4391846	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs4943946	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.80[MKK][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4944595	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs4944596	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs7103271	0.95[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.95[MEX][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7109521	0.95[CHB][hapmap];0.91[JPT][hapmap];0.93[ASN][1000 genomes]
rs7109555	0.83[ASN][1000 genomes]
rs7126810	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7127944	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs7130902	0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7924879	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7951185	0.95[CHB][hapmap];0.98[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17211115	DPYD	trans	lymphoblastoid	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86259600-86269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:86259600-86270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:86259600-86270800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:86259800-86270800	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:86260000-86268800	Weak transcription	Fetal Kidney	kidney
6	chr11:86260000-86270200	Weak transcription	Brain Angular Gyrus	brain
7	chr11:86260000-86270200	Weak transcription	Brain Substantia Nigra	brain
8	chr11:86261200-86270800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:86262400-86268200	Weak transcription	Primary T cells from cord blood	blood
10	chr11:86262400-86270600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:86263000-86268600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:86263000-86269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:86263000-86269600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:86263200-86269400	Weak transcription	NHDF-Ad	bronchial
15	chr11:86263200-86269600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:86263200-86270000	Weak transcription	NHLF	lung
17	chr11:86263200-86270200	Weak transcription	Fetal Lung	lung
18	chr11:86263200-86270600	Weak transcription	Gastric	stomach
19	chr11:86263400-86268600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:86263400-86269000	Weak transcription	Osteobl	bone
21	chr11:86263400-86269200	Weak transcription	HMEC	breast
22	chr11:86263400-86269400	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:86263400-86269400	Weak transcription	Hela-S3	cervix
24	chr11:86263400-86269400	Weak transcription	HSMM	muscle
25	chr11:86263400-86270200	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr11:86263400-86270200	Weak transcription	NH-A	brain
27	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
28	chr11:86263600-86268800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr11:86263800-86269800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:86263800-86270600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr11:86264200-86271200	Weak transcription	Brain Germinal Matrix	brain
32	chr11:86264400-86268600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:86264400-86270200	Weak transcription	Brain Anterior Caudate	brain
34	chr11:86264600-86267800	Weak transcription	Right Atrium	heart
35	chr11:86264800-86269000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:86264800-86269000	Weak transcription	Stomach Mucosa	stomach
37	chr11:86265000-86268800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:86265000-86268800	Weak transcription	NHEK	skin
39	chr11:86265000-86269000	Weak transcription	Fetal Muscle Leg	muscle
40	chr11:86265000-86269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:86265000-86269400	Weak transcription	Fetal Intestine Large	intestine
42	chr11:86265000-86269600	Weak transcription	Colonic Mucosa	Colon
43	chr11:86265000-86270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:86265000-86270200	Weak transcription	Lung	lung
45	chr11:86265000-86270400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:86265000-86278800	Weak transcription	Pancreas	Pancrea
47	chr11:86265200-86269000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:86265200-86269400	Weak transcription	Fetal Intestine Small	intestine
49	chr11:86265400-86267800	Enhancers	Fetal Brain Male	brain
50	chr11:86265400-86269400	Weak transcription	Fetal Stomach	stomach

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