Variant report

Variant	rs4485132
Chromosome Location	chr11:86524427-86524428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86339668..86341867-chr11:86523137..86524970,2	MCF-7	breast:
2	chr11:86516893..86519182-chr11:86522443..86524775,2	K562	blood:
3	chr11:86352364..86354456-chr11:86522479..86524729,2	MCF-7	breast:
4	chr11:86519601..86524011-chr11:86524298..86526997,5	MCF-7	breast:
5	chr11:86381955..86384212-chr11:86522586..86525573,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10751141	0.86[CHB][hapmap]
rs11234834	0.81[CHB][hapmap]
rs11601553	0.91[CHB][hapmap]
rs11602695	1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs12420039	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12421517	0.84[ASN][1000 genomes]
rs12421942	0.86[ASN][1000 genomes]
rs12574979	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12802848	0.86[CHB][hapmap]
rs17211926	0.83[CHB][hapmap]
rs17212012	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17819068	0.83[CHB][hapmap]
rs17819134	0.95[CHB][hapmap];0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs17819181	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]
rs17819187	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1939109	0.81[CHB][hapmap]
rs1939110	0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs1939111	0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1939112	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]
rs1939113	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1939114	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1939115	0.83[ASN][1000 genomes]
rs1939116	0.95[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs1939117	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1954769	0.91[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs2005192	0.82[CHB][hapmap]
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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2555537	0.85[CHB][hapmap]
rs28517777	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs35902217	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36061072	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3809048	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs4128368	0.86[CHB][hapmap]
rs4269941	0.82[CHB][hapmap]
rs4291699	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4304806	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4307743	0.87[CHB][hapmap]
rs4307748	0.98[ASN][1000 genomes]
rs4423210	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs4570601	0.86[CHB][hapmap]
rs4944630	0.87[CHB][hapmap]
rs6592315	0.86[CHB][hapmap]
rs6592317	0.85[CHB][hapmap]
rs7104692	0.81[CHB][hapmap]
rs7108490	0.98[ASN][1000 genomes]
rs7118751	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126492	0.94[CEU][hapmap];0.91[CHB][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7131625	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7931274	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7940201	0.82[EUR][1000 genomes]
rs7948063	0.86[CHB][hapmap]
rs7951582	0.86[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	chr11:86514000-86525400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:86514200-86525600	Weak transcription	Fetal Lung	lung
6	chr11:86515800-86525200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:86516600-86525400	Weak transcription	Fetal Heart	heart
8	chr11:86516600-86527200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:86516800-86527200	Weak transcription	Left Ventricle	heart
10	chr11:86517200-86525400	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:86517200-86529800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:86519200-86525400	Weak transcription	Aorta	Aorta
13	chr11:86519800-86525800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:86520000-86526800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:86520000-86549200	Weak transcription	Ovary	ovary
16	chr11:86521000-86551400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:86521600-86528400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:86521800-86525600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:86521800-86527800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:86522000-86524600	Enhancers	Colon Smooth Muscle	Colon
21	chr11:86522400-86525600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:86522800-86544400	Weak transcription	Fetal Kidney	kidney
23	chr11:86523000-86525600	Weak transcription	Fetal Stomach	stomach
24	chr11:86523000-86525800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:86523200-86525200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:86523200-86525400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr11:86523200-86525600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr11:86523400-86525200	Weak transcription	HSMM	muscle
29	chr11:86523400-86525400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:86523400-86525600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:86523400-86525600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:86523400-86525600	Weak transcription	Lung	lung
33	chr11:86523400-86525600	Weak transcription	Osteobl	bone
34	chr11:86523400-86525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:86523400-86525800	Weak transcription	Hela-S3	cervix
36	chr11:86523400-86526600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:86523400-86526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:86523400-86526800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:86523400-86526800	Weak transcription	Gastric	stomach
40	chr11:86523400-86527200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr11:86523400-86527200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr11:86523600-86524600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:86523600-86525600	Weak transcription	Psoas Muscle	Psoas
44	chr11:86523600-86525600	Weak transcription	NH-A	brain
45	chr11:86523800-86525600	Weak transcription	Right Atrium	heart
46	chr11:86523800-86528400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:86524000-86525000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr11:86524000-86525400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:86524000-86525400	Weak transcription	NHLF	lung
50	chr11:86524200-86525200	Weak transcription	HMEC	breast

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