Variant report

Variant	rs1939112
Chromosome Location	chr11:86525494-86525495
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86510061..86515412-chr11:86524967..86529841,8	MCF-7	breast:
2	chr11:86525218..86527255-chr11:86527296..86529166,3	MCF-7	breast:
3	chr11:86519601..86524011-chr11:86524298..86526997,5	MCF-7	breast:
4	chr11:86381955..86384212-chr11:86522586..86525573,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10751141	0.83[CHB][hapmap]
rs11601553	0.91[CHB][hapmap]
rs11602695	0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs12420039	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12421517	0.83[ASN][1000 genomes]
rs12421942	0.85[ASN][1000 genomes]
rs12574979	0.99[ASN][1000 genomes]
rs12802848	0.87[CHB][hapmap]
rs17211926	0.84[CHB][hapmap]
rs17212012	0.99[ASN][1000 genomes]
rs17819068	0.84[CHB][hapmap]
rs17819134	0.95[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs17819181	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]
rs17819187	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1939110	0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs1939111	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1939113	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1939114	0.95[CHB][hapmap];0.95[JPT][hapmap];0.99[ASN][1000 genomes]
rs1939115	0.83[ASN][1000 genomes]
rs1939116	0.92[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs1939117	0.85[EUR][1000 genomes]
rs1954769	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2155080	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2155081	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]
rs28517777	0.95[ASN][1000 genomes]
rs35902217	0.85[EUR][1000 genomes]
rs36061072	0.85[EUR][1000 genomes]
rs3809048	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4128368	0.87[CHB][hapmap]
rs4269941	0.83[CHB][hapmap]
rs4291699	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4304806	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4307743	0.88[CHB][hapmap]
rs4307748	0.97[ASN][1000 genomes]
rs4423210	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4485132	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4570601	0.87[CHB][hapmap]
rs4944630	0.88[CHB][hapmap]
rs6592315	0.87[CHB][hapmap]
rs6592317	0.82[CHB][hapmap]
rs7108490	0.97[ASN][1000 genomes]
rs7118751	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126492	0.94[CEU][hapmap];0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs7131625	0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7931274	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86512000-86527000	Weak transcription	Spleen	Spleen
2	chr11:86513600-86525600	Weak transcription	Colonic Mucosa	Colon
3	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:86514200-86525600	Weak transcription	Fetal Lung	lung
5	chr11:86516600-86527200	Weak transcription	Adipose Nuclei	Adipose
6	chr11:86516800-86527200	Weak transcription	Left Ventricle	heart
7	chr11:86517200-86529800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:86519800-86525800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr11:86520000-86526800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr11:86520000-86549200	Weak transcription	Ovary	ovary
11	chr11:86521000-86551400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:86521600-86528400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:86521800-86525600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:86521800-86527800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:86522400-86525600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:86522800-86544400	Weak transcription	Fetal Kidney	kidney
17	chr11:86523000-86525600	Weak transcription	Fetal Stomach	stomach
18	chr11:86523000-86525800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:86523200-86525600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:86523400-86525600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:86523400-86525600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:86523400-86525600	Weak transcription	Lung	lung
23	chr11:86523400-86525600	Weak transcription	Osteobl	bone
24	chr11:86523400-86525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr11:86523400-86525800	Weak transcription	Hela-S3	cervix
26	chr11:86523400-86526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:86523400-86526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr11:86523400-86526800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:86523400-86526800	Weak transcription	Gastric	stomach
30	chr11:86523400-86527200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:86523400-86527200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:86523600-86525600	Weak transcription	Psoas Muscle	Psoas
33	chr11:86523600-86525600	Weak transcription	NH-A	brain
34	chr11:86523800-86525600	Weak transcription	Right Atrium	heart
35	chr11:86523800-86528400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:86524200-86525800	Weak transcription	NHEK	skin
37	chr11:86524200-86526800	Enhancers	A549	lung
38	chr11:86524400-86525600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:86524400-86525600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr11:86524600-86525800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:86524800-86527400	Enhancers	HUVEC	blood vessel
42	chr11:86525000-86527600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr11:86525200-86528200	Enhancers	HMEC	breast
44	chr11:86525200-86528800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:86525200-86529200	Enhancers	HSMM	muscle
46	chr11:86525200-86530400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr11:86525200-86531000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:86525400-86525600	Flanking Active TSS	Colon Smooth Muscle	Colon
49	chr11:86525400-86525600	Enhancers	Stomach Smooth Muscle	stomach
50	chr11:86525400-86525800	Flanking Active TSS	Rectal Smooth Muscle	rectum

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