Variant report

Variant	rs2512978
Chromosome Location	chr11:86457532-86457533
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86454835..86456464-chr11:86456517..86458512,2	K562	blood:
2	chr11:86456277..86457862-chr11:86528085..86530264,2	MCF-7	breast:
3	chr11:86457023..86458729-chr11:86462565..86464794,3	MCF-7	breast:
4	chr11:86346528..86348844-chr11:86457417..86460033,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1075702	0.92[ASN][1000 genomes]
rs10898534	0.80[ASN][1000 genomes]
rs11234783	0.92[ASN][1000 genomes]
rs12576018	0.81[ASN][1000 genomes]
rs2433425	0.80[ASN][1000 genomes]
rs2433428	0.81[ASN][1000 genomes]
rs2433429	0.81[ASN][1000 genomes]
rs2433431	0.83[ASN][1000 genomes]
rs2433432	0.81[ASN][1000 genomes]
rs2433433	0.98[ASN][1000 genomes]
rs2433434	0.98[ASN][1000 genomes]
rs2433435	0.99[ASN][1000 genomes]
rs2433436	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433438	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2433439	0.99[ASN][1000 genomes]
rs2433440	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2433441	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512979	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512996	0.82[ASN][1000 genomes]
rs2512997	0.82[ASN][1000 genomes]
rs2512999	0.80[ASN][1000 genomes]
rs2513000	0.82[ASN][1000 genomes]
rs2513001	0.82[ASN][1000 genomes]
rs2513003	0.82[ASN][1000 genomes]
rs2513004	0.89[ASN][1000 genomes]
rs2513005	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2513018	0.94[ASN][1000 genomes]
rs2513019	0.88[ASN][1000 genomes]
rs3096715	0.95[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs3096716	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3096717	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3096718	0.90[ASN][1000 genomes]
rs4245426	0.94[ASN][1000 genomes]
rs4943957	0.92[ASN][1000 genomes]
rs4944629	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv468775	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv555705	chr11:86453415-86480716	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	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

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86446000-86458000	Enhancers	HMEC	breast
2	chr11:86450200-86459800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr11:86452200-86458000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:86452400-86457600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:86453000-86457600	Weak transcription	Fetal Heart	heart
6	chr11:86453400-86459200	Weak transcription	Brain Anterior Caudate	brain
7	chr11:86453400-86459600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr11:86453800-86459200	Weak transcription	Ovary	ovary
9	chr11:86454000-86474000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:86454400-86457600	Weak transcription	Lung	lung
11	chr11:86454400-86459200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:86454800-86460600	Weak transcription	Adipose Nuclei	Adipose
13	chr11:86455000-86457800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:86455000-86460400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:86455000-86461000	Weak transcription	Fetal Lung	lung
16	chr11:86455000-86461200	Enhancers	Osteobl	bone
17	chr11:86455000-86461600	Enhancers	NHDF-Ad	bronchial
18	chr11:86455000-86462400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:86455200-86458000	Enhancers	Hela-S3	cervix
20	chr11:86455200-86458000	Weak transcription	NHLF	lung
21	chr11:86455200-86459000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr11:86455200-86460600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:86455200-86460800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:86455200-86464600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr11:86456200-86459800	Enhancers	NH-A	brain
26	chr11:86456200-86462400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:86456400-86458200	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr11:86456400-86461400	Enhancers	HSMM	muscle
29	chr11:86456600-86458200	Enhancers	NHEK	skin
30	chr11:86456600-86461400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr11:86456600-86461600	Enhancers	HSMMtube	muscle
32	chr11:86456600-86478000	Weak transcription	Aorta	Aorta
33	chr11:86456800-86458200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr11:86456800-86459200	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr11:86456800-86459800	Enhancers	A549	lung
36	chr11:86456800-86461200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:86457000-86458000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:86457000-86459000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:86457000-86460600	Weak transcription	Psoas Muscle	Psoas
40	chr11:86457200-86457600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:86457200-86458000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr11:86457200-86458200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:86457200-86460000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:86457400-86458000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:86457400-86458400	Enhancers	Fetal Stomach	stomach
46	chr11:86457400-86461400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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