Variant report

Variant	rs72672718
Chromosome Location	chr4:96030564-96030565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96029649..96031586-chr4:96035562..96037521,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11934798	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11937369	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12645001	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13434647	0.85[EUR][1000 genomes]
rs1434549	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17412559	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17412982	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1863652	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1961224	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3796432	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3796434	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96016000-96060600	Weak transcription	Thymus	Thymus
2	chr4:96016600-96054200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr4:96024000-96044600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:96024200-96060600	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:96025000-96054600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:96025600-96042000	Strong transcription	Dnd41	blood
7	chr4:96026400-96057000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:96027200-96030600	Enhancers	Fetal Intestine Small	intestine
9	chr4:96027200-96030600	Enhancers	Hela-S3	cervix
10	chr4:96027200-96030600	Enhancers	NH-A	brain
11	chr4:96027200-96030600	Enhancers	Osteobl	bone
12	chr4:96027800-96030600	Enhancers	Fetal Intestine Large	intestine
13	chr4:96028200-96051600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:96028400-96035200	Weak transcription	Fetal Thymus	thymus
15	chr4:96029000-96031400	Enhancers	A549	lung
16	chr4:96029600-96050200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:96029600-96051000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:96029600-96051000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr4:96030000-96034400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr4:96030200-96030600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:96030200-96037600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:96030400-96054200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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