Variant report

Variant	rs2155081
Chromosome Location	chr11:86520752-86520753
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	chr11:86519601..86524011-chr11:86524298..86526997,5	MCF-7	breast:
2	chr11:86313579..86315805-chr11:86518203..86520987,2	MCF-7	breast:

Extended variants
information (count: 53 )
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];0.81[CHD][hapmap]
rs11602695	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs12420039	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12421517	0.85[ASN][1000 genomes]
rs12421942	0.87[ASN][1000 genomes]
rs12574979	0.97[ASN][1000 genomes]
rs12802848	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs17211926	0.83[CHB][hapmap]
rs17212012	0.97[ASN][1000 genomes]
rs17819068	0.83[CHB][hapmap]
rs17819134	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs17819181	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]
rs17819187	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1939110	0.95[CHB][hapmap];0.85[CHD][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs1939111	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1939112	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1939113	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1939114	0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs1939115	0.84[ASN][1000 genomes]
rs1939116	0.91[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1939117	0.85[EUR][1000 genomes]
rs1954769	0.91[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs2155080	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28517777	0.94[ASN][1000 genomes]
rs35902217	0.85[EUR][1000 genomes]
rs36061072	0.85[EUR][1000 genomes]
rs3809048	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4128368	0.87[CHB][hapmap]
rs4269941	0.83[CHB][hapmap]
rs4291699	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4304806	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4307743	0.87[CHB][hapmap]
rs4307748	0.99[ASN][1000 genomes]
rs4423210	0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4485132	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4570601	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs4944630	0.87[CHB][hapmap]
rs6592315	0.87[CHB][hapmap];0.81[CHD][hapmap]
rs6592317	0.82[CHB][hapmap]
rs7108490	0.99[ASN][1000 genomes]
rs7118751	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7126492	0.88[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.85[GIH][hapmap];0.83[TSI][hapmap];0.88[EUR][1000 genomes]
rs7131625	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7931274	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7940201	0.82[EUR][1000 genomes]
rs7948063	0.87[CHB][hapmap]
rs7951582	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv523704	chr11:86508928-86528437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	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
rs2155081	TYR	cis	parietal	SCAN
rs2155081	TYR	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86512000-86527000	Weak transcription	Spleen	Spleen
2	chr11:86512800-86522800	Weak transcription	Pancreas	Pancrea
3	chr11:86513600-86525600	Weak transcription	Colonic Mucosa	Colon
4	chr11:86513800-86522200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:86513800-86522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:86514000-86523200	Weak transcription	Psoas Muscle	Psoas
7	chr11:86514000-86525400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:86514200-86525600	Weak transcription	Fetal Lung	lung
10	chr11:86514600-86521400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:86515600-86521600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:86515800-86525200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:86516200-86523400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:86516600-86522800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:86516600-86525400	Weak transcription	Fetal Heart	heart
16	chr11:86516600-86527200	Weak transcription	Adipose Nuclei	Adipose
17	chr11:86516800-86521600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:86516800-86527200	Weak transcription	Left Ventricle	heart
19	chr11:86517200-86521200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:86517200-86523000	Weak transcription	Right Atrium	heart
21	chr11:86517200-86525400	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:86517200-86529800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:86517400-86521000	Strong transcription	NH-A	brain
24	chr11:86517600-86521000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr11:86517600-86521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:86517600-86522800	Weak transcription	Stomach Mucosa	stomach
27	chr11:86517800-86521400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:86517800-86521400	Strong transcription	HMEC	breast
29	chr11:86517800-86521600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:86517800-86522200	Strong transcription	HSMM	muscle
31	chr11:86518200-86520800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:86518800-86520800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:86518800-86522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:86519200-86520800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:86519200-86520800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr11:86519200-86521000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr11:86519200-86525400	Weak transcription	Aorta	Aorta
38	chr11:86519400-86523400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:86519600-86520800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:86519600-86521000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:86519600-86521000	Enhancers	Colon Smooth Muscle	Colon
42	chr11:86519800-86521200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:86519800-86521600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:86519800-86521800	Genic enhancers	A549	lung
45	chr11:86519800-86522400	Weak transcription	NHLF	lung
46	chr11:86519800-86522600	Weak transcription	Fetal Stomach	stomach
47	chr11:86519800-86522800	Weak transcription	Fetal Intestine Small	intestine
48	chr11:86519800-86523200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:86519800-86523200	Weak transcription	Lung	lung
50	chr11:86519800-86523400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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