Variant report

Variant	rs11940214
Chromosome Location	chr4:95850201-95850202
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	chr4:95848217..95850324-chr4:95853544..95856534,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10021303	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11943406	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13108056	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13142031	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1444929	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1444930	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28433320	0.86[ASN][1000 genomes]
rs28521217	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3775017	0.86[ASN][1000 genomes]
rs3775021	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775022	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775024	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3775025	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775026	0.86[ASN][1000 genomes]
rs41420348	0.86[ASN][1000 genomes]
rs6849425	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1005816	chr4:95573444-95902704	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95831000-95855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:95849000-95850400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:95849000-95850600	Enhancers	A549	lung
4	chr4:95849200-95850800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:95849200-95852400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:95849200-95852800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:95849200-95854600	Weak transcription	NH-A	brain
8	chr4:95849200-95855200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:95849200-95856400	Weak transcription	Aorta	Aorta
10	chr4:95849200-95861600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:95849400-95850400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:95849400-95850600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:95849600-95850800	Weak transcription	Ovary	ovary
14	chr4:95849600-95852600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr4:95849600-95853000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:95849600-95853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:95849600-95855000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:95849600-95856400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:95849800-95850400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:95849800-95850600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:95849800-95855000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:95850000-95850800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr4:95850000-95852800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr4:95850200-95851200	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr4:95850200-95852000	Enhancers	Fetal Kidney	kidney
26	chr4:95850200-95855000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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