Variant report

Variant	rs7128963
Chromosome Location	chr11:33599446-33599447
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	chr11:33596599..33600481-chr11:33606542..33609139,3	K562	blood:
2	chr11:33596418..33599960-chr11:33602202..33605438,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10768008	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10768011	0.85[JPT][hapmap]
rs10836072	0.87[CHB][hapmap];0.85[EUR][1000 genomes]
rs10836077	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10836078	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032295	0.83[EUR][1000 genomes]
rs11032300	1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032305	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032306	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032307	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11032309	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11032310	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032311	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032317	0.81[EUR][1000 genomes]
rs11823713	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12277742	1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12806278	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1321013	1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16924469	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2076625	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2076626	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2273115	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2273117	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2901321	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34316641	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34418271	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34862267	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34960900	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35112514	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35867834	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35882323	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35916089	0.84[EUR][1000 genomes]
rs35917507	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4755201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4755207	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4755718	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55891606	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61888295	0.86[EUR][1000 genomes]
rs61888322	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6484658	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7102647	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104844	0.81[CHB][hapmap]
rs7109146	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7110105	0.94[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7119677	1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7122768	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7123643	0.89[EUR][1000 genomes]
rs735327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7939586	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7945168	0.94[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][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	nsv1044478	chr11:33008435-33656273	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1050944	chr11:33043155-33656273	Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv540993	chr11:33043155-33656273	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529212	chr11:33053073-33641691	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv869418	chr11:33053073-33662479	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv521130	chr11:33068389-33602913	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	nsv1041680	chr11:33249367-33637249	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv540997	chr11:33249367-33637249	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv832112	chr11:33469782-33683052	Enhancers Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33555200-33617600	Weak transcription	Fetal Brain Male	brain
2	chr11:33568200-33606600	Weak transcription	HUVEC	blood vessel
3	chr11:33569800-33605000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:33578800-33599600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:33579400-33605000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:33579600-33605600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr11:33579600-33607000	Weak transcription	Osteobl	bone
8	chr11:33587000-33615400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr11:33587000-33615600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr11:33588200-33610600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr11:33591400-33615400	Weak transcription	A549	lung
12	chr11:33593400-33604400	Weak transcription	Brain Germinal Matrix	brain
13	chr11:33594400-33600200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:33594600-33605800	Weak transcription	NH-A	brain
15	chr11:33594600-33607200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:33594600-33608000	Weak transcription	Brain Anterior Caudate	brain
17	chr11:33594600-33615600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:33594600-33615600	Weak transcription	Brain Angular Gyrus	brain
19	chr11:33594600-33644000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:33594800-33604600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:33597000-33604600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:33597200-33600800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:33597600-33600000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:33597800-33600600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:33598200-33599800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:33598400-33604600	Weak transcription	Fetal Brain Female	brain
27	chr11:33598800-33599600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:33598800-33606200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:33599200-33601600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:33599200-33607400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr11:33599200-33615400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:33599400-33604600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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