Variant report

Variant	rs2042677
Chromosome Location	chr11:108742450-108742451
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:108742339..108744507-chr11:108746363..108748537,2	K562	blood:
2	chr11:108658928..108659997-chr11:108741741..108742558,3	MCF-7	breast:
3	chr11:108568251..108569546-chr11:108741508..108742629,6	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10502103	0.81[ASN][1000 genomes]
rs12574721	0.82[ASN][1000 genomes]
rs12574758	0.82[ASN][1000 genomes]
rs12577382	0.82[ASN][1000 genomes]
rs12785398	0.81[ASN][1000 genomes]
rs12794597	0.81[ASN][1000 genomes]
rs12802313	0.82[ASN][1000 genomes]
rs12808674	0.82[ASN][1000 genomes]
rs1365046	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1365047	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1365048	0.99[ASN][1000 genomes]
rs17108703	0.81[ASN][1000 genomes]
rs2042678	0.97[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2553751	0.81[ASN][1000 genomes]
rs2553754	1.00[ASN][1000 genomes]
rs2553757	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2553758	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2553760	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2553761	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2615756	0.83[ASN][1000 genomes]
rs2726907	0.99[ASN][1000 genomes]
rs2726908	0.94[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs2726910	1.00[ASN][1000 genomes]
rs2726911	1.00[ASN][1000 genomes]
rs2726913	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2726914	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2726915	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2726916	0.94[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2726919	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2726920	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34350110	0.82[ASN][1000 genomes]
rs34354308	0.82[ASN][1000 genomes]
rs35244070	0.82[ASN][1000 genomes]
rs35430545	0.82[ASN][1000 genomes]
rs57014838	0.81[ASN][1000 genomes]
rs71489925	0.82[ASN][1000 genomes]
rs898972	0.82[ASN][1000 genomes]

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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108726200-108768400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr11:108728400-108810600	Weak transcription	Left Ventricle	heart
3	chr11:108734600-108753200	Weak transcription	GM12878-XiMat	blood
4	chr11:108734800-108743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:108739000-108744000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr11:108739400-108744400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr11:108739400-108745200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:108739600-108742600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr11:108739800-108744000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr11:108740600-108744800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:108740800-108742600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:108740800-108743800	Enhancers	NHLF	lung
13	chr11:108740800-108744200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr11:108740800-108744400	Enhancers	NHEK	skin
15	chr11:108741000-108743800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr11:108741400-108742600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:108741400-108742800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:108741400-108743600	Weak transcription	HSMMtube	muscle
19	chr11:108741600-108742600	Enhancers	NHDF-Ad	bronchial
20	chr11:108741600-108742800	Weak transcription	Brain Angular Gyrus	brain
21	chr11:108741800-108742600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr11:108741800-108743200	Enhancers	Osteobl	bone
23	chr11:108741800-108743400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:108741800-108743400	Enhancers	NH-A	brain
25	chr11:108741800-108743600	Weak transcription	HMEC	breast
26	chr11:108741800-108743600	Weak transcription	HSMM	muscle
27	chr11:108741800-108744400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:108741800-108750400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:108741800-108756600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:108742000-108743400	Enhancers	HUVEC	blood vessel
31	chr11:108742000-108743600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:108742000-108743600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:108742000-108743600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:108742000-108744200	Enhancers	A549	lung
35	chr11:108742200-108742600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:108742400-108743400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr11:108742400-108753400	Weak transcription	Ovary	ovary

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