Variant report

Variant	rs4442522
Chromosome Location	chr11:45490208-45490209
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45488928..45491799-chr11:45499430..45501355,2	K562	blood:
2	chr11:45481521..45483456-chr11:45488873..45491103,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10742757	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10769152	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1157784	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1157785	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1488664	0.90[EUR][1000 genomes]
rs1994513	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1994514	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1994515	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2122839	0.95[EUR][1000 genomes]
rs2198152	0.90[EUR][1000 genomes]
rs2863702	0.90[EUR][1000 genomes]
rs4755989	0.90[EUR][1000 genomes]
rs4755990	1.00[EUR][1000 genomes]
rs4755994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6485626	0.90[EUR][1000 genomes]
rs7111035	1.00[EUR][1000 genomes]
rs7114666	1.00[EUR][1000 genomes]
rs7949832	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs896337	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs896341	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs896343	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs901899	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs901901	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs991986	0.90[EUR][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	nsv530619	chr11:45294176-45553928	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045831	chr11:45419113-45580407	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1049520	chr11:45430802-45494235	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	nsv541026	chr11:45430802-45494235	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1053919	chr11:45457920-45506491	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv541027	chr11:45457920-45506491	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv897310	chr11:45487041-45631953	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45485400-45492200	Weak transcription	Pancreas	Pancrea
2	chr11:45489400-45490400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:45489400-45490400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:45489400-45490400	Enhancers	Fetal Stomach	stomach
5	chr11:45489600-45490400	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr11:45489600-45490400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:45489600-45490400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:45489600-45490400	Enhancers	Fetal Muscle Leg	muscle
9	chr11:45489600-45490400	Enhancers	HUVEC	blood vessel
10	chr11:45489600-45490400	Enhancers	Osteobl	bone
11	chr11:45489600-45491600	Enhancers	Spleen	Spleen
12	chr11:45489600-45493000	Enhancers	Adipose Nuclei	Adipose
13	chr11:45489800-45490400	Enhancers	Fetal Heart	heart
14	chr11:45489800-45490400	Enhancers	Fetal Kidney	kidney
15	chr11:45489800-45490400	Enhancers	Fetal Lung	lung
16	chr11:45489800-45490600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:45490000-45490400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:45490000-45490400	Enhancers	Right Ventricle	heart
19	chr11:45490000-45491000	Weak transcription	Ovary	ovary
20	chr11:45490200-45490400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:45490200-45491400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:45490200-45491400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:45490200-45492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr11:45490200-45493000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr11:45490200-45494600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:45490200-45494600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:45490200-45495200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:45490200-45495200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:45490200-45510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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