Variant report

Variant	rs17819181
Chromosome Location	chr11:86529128-86529129
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:45823561..45828126-chr11:86528256..86531993,4	MCF-7	breast:
2	chr11:86166713..86167839-chr11:86528876..86530191,9	MCF-7	breast:
3	chr11:86510061..86515412-chr11:86524967..86529841,8	MCF-7	breast:
4	chr11:86319149..86319859-chr11:86528932..86529935,3	K562	blood:
5	chr11:86487507..86489179-chr11:86528205..86530836,2	MCF-7	breast:
6	chr11:86527774..86530543-chr11:86627685..86629323,2	MCF-7	breast:
7	chr11:86525218..86527255-chr11:86527296..86529166,3	MCF-7	breast:
8	chr11:86456277..86457862-chr11:86528085..86530264,2	MCF-7	breast:
9	chr11:86318542..86319850-chr11:86528941..86530646,11	MCF-7	breast:
10	chr11:86316921..86319182-chr11:86528850..86531026,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000181830	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10751141	0.82[CHB][hapmap]
rs11601553	0.91[CHB][hapmap];0.82[CHD][hapmap]
rs11602695	0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs12420039	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12421517	0.81[ASN][1000 genomes]
rs12421942	0.83[ASN][1000 genomes]
rs12574979	0.96[ASN][1000 genomes]
rs12802848	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs17211926	0.83[CHB][hapmap]
rs17212012	0.96[ASN][1000 genomes]
rs17819068	0.83[CHB][hapmap]
rs17819134	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs17819187	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1939110	0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs1939111	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1939112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939113	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1939114	0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs1939115	0.80[ASN][1000 genomes]
rs1939116	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs1939117	0.85[EUR][1000 genomes]
rs1954769	0.91[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs2155080	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155081	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28517777	0.98[ASN][1000 genomes]
rs35902217	0.85[EUR][1000 genomes]
rs36061072	0.85[EUR][1000 genomes]
rs3809048	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs4128368	0.87[CHB][hapmap]
rs4269941	0.83[CHB][hapmap]
rs4291699	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4304806	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4307743	0.87[CHB][hapmap]
rs4307748	0.94[ASN][1000 genomes]
rs4423210	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4485132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4570601	0.87[CHB][hapmap];0.82[CHD][hapmap]
rs4944630	0.87[CHB][hapmap]
rs6592315	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs6592317	0.82[CHB][hapmap];0.81[MEX][hapmap]
rs7108490	0.94[ASN][1000 genomes]
rs7118751	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7126492	0.94[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs7131625	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7931274	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7940201	0.82[EUR][1000 genomes]
rs7948063	0.87[CHB][hapmap]
rs7951582	0.87[CHB][hapmap]

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	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2760199	chr11:86512312-86531118	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17819181	TYR	cis	parietal	SCAN
rs17819181	TYR	cis	cerebellum	SCAN

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr11:86517200-86529800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:86520000-86549200	Weak transcription	Ovary	ovary
4	chr11:86521000-86551400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:86522800-86544400	Weak transcription	Fetal Kidney	kidney
6	chr11:86525200-86529200	Enhancers	HSMM	muscle
7	chr11:86525200-86530400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:86525200-86531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:86525600-86529400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:86525800-86530200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:86525800-86530400	Enhancers	Hela-S3	cervix
12	chr11:86525800-86530800	Enhancers	Rectal Smooth Muscle	rectum
13	chr11:86526000-86529400	Weak transcription	Fetal Heart	heart
14	chr11:86526000-86529400	Weak transcription	Fetal Lung	lung
15	chr11:86526800-86530200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:86526800-86531000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:86527400-86529800	Weak transcription	Aorta	Aorta
18	chr11:86527400-86530000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:86527400-86530000	Weak transcription	Right Atrium	heart
20	chr11:86527400-86530200	Enhancers	HSMMtube	muscle
21	chr11:86527400-86530400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:86527400-86531000	Enhancers	Colon Smooth Muscle	Colon
23	chr11:86527600-86529800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:86527800-86529400	Weak transcription	Fetal Stomach	stomach
25	chr11:86527800-86529800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:86527800-86530400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:86527800-86534400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:86528000-86529800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:86528000-86530200	Enhancers	HUVEC	blood vessel
30	chr11:86528000-86530400	Enhancers	NH-A	brain
31	chr11:86528000-86542600	Weak transcription	Adipose Nuclei	Adipose
32	chr11:86528400-86529200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:86528400-86529400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:86528600-86530200	Enhancers	HMEC	breast
35	chr11:86528600-86530400	Enhancers	Osteobl	bone
36	chr11:86528800-86529800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr11:86528800-86529800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr11:86528800-86530000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:86528800-86530200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr11:86528800-86530200	Enhancers	NHDF-Ad	bronchial
41	chr11:86528800-86530200	Enhancers	NHLF	lung
42	chr11:86528800-86545400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:86529000-86529200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr11:86529000-86529200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:86529000-86529200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:86529000-86529200	Enhancers	Fetal Muscle Leg	muscle
47	chr11:86529000-86529200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr11:86529000-86529200	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:86529000-86529600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr11:86529000-86529600	Flanking Active TSS	A549	lung

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