Variant report

Variant	rs2465262
Chromosome Location	chr4:48871109-48871110
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:149222104..149224886-chr4:48870472..48871972,2	MCF-7	breast:
2	chr1:149223438..149225056-chr4:48870492..48871992,2	K562	blood:

Variant related genes	Relation type
ENSG00000206737	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10938545	1.00[AFR][1000 genomes]
rs11729557	0.89[AFR][1000 genomes]
rs12500570	1.00[EUR][1000 genomes]
rs12507475	0.81[AFR][1000 genomes]
rs2354939	0.89[AFR][1000 genomes]
rs2354942	0.97[AFR][1000 genomes]
rs2572340	1.00[AFR][1000 genomes]
rs2572341	0.86[AFR][1000 genomes]
rs2572342	1.00[AFR][1000 genomes]
rs2572347	0.90[AFR][1000 genomes]
rs2605253	0.84[AFR][1000 genomes]
rs2712155	1.00[AFR][1000 genomes]
rs2925213	0.88[AFR][1000 genomes]
rs4274819	0.84[AFR][1000 genomes]
rs4694905	0.89[AFR][1000 genomes]
rs4695406	0.89[AFR][1000 genomes]
rs6815932	1.00[AFR][1000 genomes]
rs6824209	1.00[AFR][1000 genomes]
rs6839713	1.00[AFR][1000 genomes]
rs6844579	1.00[AFR][1000 genomes]
rs7654729	1.00[AFR][1000 genomes]
rs7669831	0.89[AFR][1000 genomes]
rs7686458	0.87[AFR][1000 genomes]
rs7698768	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv916809	chr4:48784318-49083302	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1011910	chr4:48784332-49154757	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv879010	chr4:48794403-49061141	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1008733	chr4:48827603-48971172	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
13	nsv427680	chr4:48829607-49660117	ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48848200-48880000	Weak transcription	Brain Substantia Nigra	brain
2	chr4:48860400-48882200	Weak transcription	Gastric	stomach
3	chr4:48860400-48901400	Weak transcription	Brain Hippocampus Middle	brain
4	chr4:48860600-48872600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr4:48860600-48873600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:48860800-48871800	Weak transcription	Ovary	ovary
7	chr4:48860800-48871800	Weak transcription	Pancreas	Pancrea
8	chr4:48860800-48872000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:48860800-48872400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:48860800-48873000	Weak transcription	Primary T cells from cord blood	blood
11	chr4:48860800-48892000	Weak transcription	Thymus	Thymus
12	chr4:48860800-48892800	Weak transcription	Aorta	Aorta
13	chr4:48860800-48892800	Weak transcription	Left Ventricle	heart
14	chr4:48860800-48895000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:48860800-48895000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:48863200-48871600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:48863600-48871800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:48863600-48892000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr4:48864200-48872600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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