Variant report

Variant	rs2512486
Chromosome Location	chr11:86784114-86784115
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	chr11:86774381..86776873-chr11:86783192..86784791,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2124577	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2124579	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2374996	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2445537	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2445538	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2445543	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2445549	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2445552	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2445564	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2445565	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445570	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2445581	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2451066	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2512335	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2512347	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2512364	0.86[ASN][1000 genomes]
rs2512370	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2512371	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2512373	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2512379	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512392	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2512478	0.93[ASN][1000 genomes]
rs2512498	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2512502	0.88[ASN][1000 genomes]
rs2513206	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513208	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2513219	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513220	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2513225	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513232	0.84[AFR][1000 genomes]
rs2513234	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3740659	0.81[ASN][1000 genomes]
rs4944666	0.81[AMR][1000 genomes]
rs7481222	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs965467	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86750800-86787400	Weak transcription	A549	lung
2	chr11:86751000-86786800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:86751000-86787400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:86751200-86785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:86751400-86786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:86751600-86787000	Weak transcription	Aorta	Aorta
7	chr11:86758200-86786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:86769000-86786400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:86769200-86786400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:86769200-86786800	Weak transcription	Brain Anterior Caudate	brain
11	chr11:86769200-86791200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:86769200-86792400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:86769600-86784800	Weak transcription	Ovary	ovary
14	chr11:86769600-86786600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:86770200-86784200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:86770400-86808200	Weak transcription	HUVEC	blood vessel
17	chr11:86771000-86786600	Weak transcription	Fetal Brain Male	brain
18	chr11:86771200-86786800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:86771800-86786000	Weak transcription	Fetal Lung	lung
20	chr11:86773000-86790800	Weak transcription	NHLF	lung
21	chr11:86773000-86792000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr11:86774600-86792400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr11:86774800-86786400	Weak transcription	Lung	lung
24	chr11:86774800-86786800	Weak transcription	Pancreas	Pancrea
25	chr11:86774800-86786800	Weak transcription	Right Ventricle	heart
26	chr11:86774800-86787600	Weak transcription	NHEK	skin
27	chr11:86774800-86806400	Weak transcription	Small Intestine	intestine
28	chr11:86775000-86786600	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:86775600-86786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr11:86775600-86791400	Weak transcription	HSMM	muscle
31	chr11:86776200-86787000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr11:86776400-86786000	Weak transcription	Fetal Thymus	thymus
33	chr11:86776400-86792400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:86776600-86786600	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:86776600-86793000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:86776600-86815600	Weak transcription	HSMMtube	muscle
37	chr11:86777000-86785600	Weak transcription	Dnd41	blood
38	chr11:86777000-86787000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr11:86777200-86786400	Weak transcription	Fetal Intestine Large	intestine
40	chr11:86777200-86786600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:86777400-86786600	Weak transcription	HMEC	breast
42	chr11:86777400-86786800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:86777400-86787600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:86777400-86792400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr11:86778000-86786800	Weak transcription	Primary B cells from cord blood	blood
46	chr11:86778000-86786800	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:86778400-86786000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:86778400-86792400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:86778800-86789000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:86778800-86789600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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