Variant report

Variant	rs12288277
Chromosome Location	chr11:93129483-93129484
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1004417	0.86[CHB][hapmap]
rs10831029	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs10831032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10831033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10831046	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs11020298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs11020301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes]
rs11020303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs11020304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11020306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11020309	0.80[AMR][1000 genomes]
rs11020311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11020313	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11020314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11020315	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11020316	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs11020354	0.80[CHB][hapmap]
rs11020356	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs11020357	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs12270883	0.80[AMR][1000 genomes]
rs12271165	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12272743	0.80[AMR][1000 genomes]
rs12273033	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes]
rs12275682	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes]
rs12276463	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.82[AMR][1000 genomes]
rs12276820	0.82[AMR][1000 genomes]
rs12277063	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs12280126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs12281366	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs12282288	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12282377	0.82[AMR][1000 genomes]
rs12283758	0.82[AMR][1000 genomes]
rs12284477	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12284681	0.82[AMR][1000 genomes]
rs12285123	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs12285128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs12286273	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs12286814	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs12287849	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12288686	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs12289685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12289847	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12290433	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs12292127	0.87[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs12292451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12292876	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs12293300	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs12293344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap]
rs12295955	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs1456236	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2124561	0.80[AMR][1000 genomes]
rs2259469	0.87[CHB][hapmap]
rs2605576	0.86[CHB][hapmap]
rs2605578	0.87[CHB][hapmap]
rs2605579	0.87[CHB][hapmap]
rs2658774	0.87[CHB][hapmap]
rs2895469	0.80[AMR][1000 genomes]
rs2925353	0.87[CHB][hapmap]
rs61919178	0.82[AMR][1000 genomes]
rs61919180	0.85[AMR][1000 genomes]
rs72972371	0.80[AMR][1000 genomes]
rs7949734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7949990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs977255	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv468793	chr11:93068163-93129893	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
4	nsv1035530	chr11:93114111-93148948	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93121000-93130200	Weak transcription	K562	blood
2	chr11:93126400-93130000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:93126800-93129800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:93126800-93145200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:93127400-93129600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:93127400-93129800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:93127800-93129600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:93128400-93129600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr11:93128400-93130600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:93128400-93130600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:93128400-93130600	Weak transcription	Fetal Heart	heart
12	chr11:93128600-93129600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:93128600-93129600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:93128600-93129600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr11:93129200-93130400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:93129400-93129600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr11:93129400-93130000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:93129400-93130000	Enhancers	NHEK	skin

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