Variant report

Variant	rs612700
Chromosome Location	chr11:74127339-74127340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10793084	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10793085	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs10898988	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs10898989	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11236106	0.82[ASN][1000 genomes]
rs12274367	0.82[ASN][1000 genomes]
rs12281178	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2509535	0.85[ASN][1000 genomes]
rs3132849	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3862800	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs484447	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs515589	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs517303	0.82[ASN][1000 genomes]
rs520701	0.83[ASN][1000 genomes]
rs520837	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs537637	0.94[ASN][1000 genomes]
rs538805	0.85[ASN][1000 genomes]
rs539343	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs540279	0.82[ASN][1000 genomes]
rs544747	0.83[ASN][1000 genomes]
rs563722	0.95[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs56373920	0.82[ASN][1000 genomes]
rs591372	0.82[ASN][1000 genomes]
rs603502	0.82[ASN][1000 genomes]
rs612040	0.83[ASN][1000 genomes]
rs615593	0.83[ASN][1000 genomes]
rs618993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61901485	0.82[ASN][1000 genomes]
rs621109	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs621857	0.85[ASN][1000 genomes]
rs629134	0.85[ASN][1000 genomes]
rs633568	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs638656	0.81[ASN][1000 genomes]
rs640500	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs642033	0.90[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs642500	0.85[ASN][1000 genomes]
rs645184	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs658950	0.82[ASN][1000 genomes]
rs670722	0.85[ASN][1000 genomes]
rs670829	0.82[ASN][1000 genomes]
rs671946	0.82[ASN][1000 genomes]
rs684028	0.82[ASN][1000 genomes]
rs685684	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs692809	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs693884	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs694638	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7925353	0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs7947671	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv555443	chr11:74109166-74180489	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1041154	chr11:74114801-74177909	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74121400-74128600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:74124200-74128200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:74124200-74128400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:74124200-74128400	Weak transcription	Hela-S3	cervix
5	chr11:74124200-74128600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:74124200-74128600	Weak transcription	HSMM	muscle
7	chr11:74124400-74128800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:74124600-74128000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:74126600-74127400	Enhancers	Esophagus	oesophagus
10	chr11:74126800-74128600	Enhancers	NHEK	skin
11	chr11:74126800-74130800	Enhancers	Fetal Thymus	thymus
12	chr11:74126800-74131000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:74127000-74127400	Enhancers	HUVEC	blood vessel
14	chr11:74127000-74129400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:74127000-74129400	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr11:74127000-74129600	Enhancers	A549	lung
17	chr11:74127000-74129800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr11:74127000-74130000	Enhancers	Thymus	Thymus
19	chr11:74127200-74127400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr11:74127200-74127400	Enhancers	Dnd41	blood
21	chr11:74127200-74128000	Weak transcription	Aorta	Aorta
22	chr11:74127200-74128000	Weak transcription	Pancreas	Pancrea
23	chr11:74127200-74128600	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:74127200-74128800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:74127200-74130000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:74127200-74130400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:74127200-74130400	Enhancers	HMEC	breast
28	chr11:74127200-74130800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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