Variant report

Variant	rs2512396
Chromosome Location	chr11:86785643-86785644
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12419551	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12576009	0.81[CHB][hapmap]
rs1378879	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1531146	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1531147	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1963952	0.90[CHB][hapmap]
rs1968740	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1968742	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2001411	0.94[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2077594	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2445535	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2445575	0.83[EUR][1000 genomes]
rs2445580	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2512330	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512332	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512356	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2512357	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2512358	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2512367	0.83[EUR][1000 genomes]
rs2512389	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512395	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2512397	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2512485	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2512499	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2513210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2513212	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2513214	0.84[EUR][1000 genomes]
rs2513215	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513216	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513218	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2513224	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513228	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2513233	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2513239	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2513240	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3133317	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3133319	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3133361	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4943971	0.94[CEU][hapmap];0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs496834	0.81[CHB][hapmap]
rs503939	0.82[CHB][hapmap]
rs521252	0.82[CHB][hapmap]
rs529564	0.81[CHB][hapmap]
rs581174	0.81[CHB][hapmap]
rs596912	0.84[CHB][hapmap]
rs605313	0.81[CHB][hapmap]
rs611538	0.84[CHB][hapmap]
rs676384	0.81[CHB][hapmap]

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:112 , 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	chr11:86751400-86786400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:86751600-86787000	Weak transcription	Aorta	Aorta
6	chr11:86758200-86786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:86769000-86786400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:86769200-86786400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:86769200-86786800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:86769200-86791200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:86769200-86792400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr11:86769600-86786600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:86770400-86808200	Weak transcription	HUVEC	blood vessel
14	chr11:86771000-86786600	Weak transcription	Fetal Brain Male	brain
15	chr11:86771200-86786800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr11:86771800-86786000	Weak transcription	Fetal Lung	lung
17	chr11:86773000-86790800	Weak transcription	NHLF	lung
18	chr11:86773000-86792000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:86774600-86792400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:86774800-86786400	Weak transcription	Lung	lung
21	chr11:86774800-86786800	Weak transcription	Pancreas	Pancrea
22	chr11:86774800-86786800	Weak transcription	Right Ventricle	heart
23	chr11:86774800-86787600	Weak transcription	NHEK	skin
24	chr11:86774800-86806400	Weak transcription	Small Intestine	intestine
25	chr11:86775000-86786600	Weak transcription	Colon Smooth Muscle	Colon
26	chr11:86775600-86786400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:86775600-86791400	Weak transcription	HSMM	muscle
28	chr11:86776200-86787000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr11:86776400-86786000	Weak transcription	Fetal Thymus	thymus
30	chr11:86776400-86792400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:86776600-86786600	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:86776600-86793000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:86776600-86815600	Weak transcription	HSMMtube	muscle
34	chr11:86777000-86787000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:86777200-86786400	Weak transcription	Fetal Intestine Large	intestine
36	chr11:86777200-86786600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr11:86777400-86786600	Weak transcription	HMEC	breast
38	chr11:86777400-86786800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:86777400-86787600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:86777400-86792400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr11:86778000-86786800	Weak transcription	Primary B cells from cord blood	blood
42	chr11:86778000-86786800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr11:86778400-86786000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr11:86778400-86792400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:86778800-86789000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:86778800-86789600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:86778800-86791800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:86778800-86792400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:86779000-86786600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr11:86779000-86786600	Weak transcription	Rectal Smooth Muscle	rectum

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