Variant report

Variant	rs7103271
Chromosome Location	chr11:86264881-86264882
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	chr11:86262717..86267306-chr11:86267852..86270580,5	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10792857	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs10792858	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898500	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10898501	0.95[JPT][hapmap]
rs12287767	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];0.99[ASN][1000 genomes]
rs1350478	0.87[CHB][hapmap]
rs1458382	0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17211115	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]
rs1824279	0.80[ASN][1000 genomes]
rs1945036	0.95[JPT][hapmap]
rs1945146	0.86[MEX][hapmap]
rs4144867	0.95[JPT][hapmap]
rs4391846	0.95[JPT][hapmap]
rs4943946	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4944595	0.91[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap]
rs4944596	0.95[JPT][hapmap];0.84[YRI][hapmap]
rs7109521	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs7109555	0.81[ASN][1000 genomes]
rs7126810	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7127944	0.95[JPT][hapmap];0.84[YRI][hapmap]
rs7130902	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924879	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7951185	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7103271	DPYD	trans	lymphoblastoid	seeQTL
rs7103271	ADAM23	trans	lymphoblastoid	seeQTL

Chromatin state (count:73 , 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	chr11:86260000-86266200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr11:86260000-86268800	Weak transcription	Fetal Kidney	kidney
7	chr11:86260000-86270200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:86260000-86270200	Weak transcription	Brain Substantia Nigra	brain
9	chr11:86260800-86265000	Enhancers	Fetal Intestine Large	intestine
10	chr11:86260800-86265000	Enhancers	Left Ventricle	heart
11	chr11:86260800-86265000	Enhancers	Pancreas	Pancrea
12	chr11:86261000-86265600	Weak transcription	Fetal Brain Female	brain
13	chr11:86261200-86270800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:86261600-86265000	Enhancers	Right Ventricle	heart
15	chr11:86261800-86265000	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr11:86262200-86265000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr11:86262200-86265200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:86262200-86265400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr11:86262400-86268200	Weak transcription	Primary T cells from cord blood	blood
20	chr11:86262400-86270600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:86263000-86266000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:86263000-86268600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:86263000-86269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:86263000-86269600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:86263200-86266000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:86263200-86266200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:86263200-86266400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr11:86263200-86267200	Weak transcription	Fetal Heart	heart
29	chr11:86263200-86267400	Weak transcription	HSMMtube	muscle
30	chr11:86263200-86269400	Weak transcription	NHDF-Ad	bronchial
31	chr11:86263200-86269600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr11:86263200-86270000	Weak transcription	NHLF	lung
33	chr11:86263200-86270200	Weak transcription	Fetal Lung	lung
34	chr11:86263200-86270600	Weak transcription	Gastric	stomach
35	chr11:86263400-86265400	Strong transcription	Adipose Nuclei	Adipose
36	chr11:86263400-86265400	Strong transcription	Fetal Stomach	stomach
37	chr11:86263400-86266000	Weak transcription	Psoas Muscle	Psoas
38	chr11:86263400-86266200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:86263400-86266600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:86263400-86268600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr11:86263400-86269000	Weak transcription	Osteobl	bone
42	chr11:86263400-86269200	Weak transcription	HMEC	breast
43	chr11:86263400-86269400	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:86263400-86269400	Weak transcription	Hela-S3	cervix
45	chr11:86263400-86269400	Weak transcription	HSMM	muscle
46	chr11:86263400-86270200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:86263400-86270200	Weak transcription	NH-A	brain
48	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
49	chr11:86263600-86265000	Strong transcription	Fetal Muscle Leg	muscle
50	chr11:86263600-86266000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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