Variant report

Variant	rs4283624
Chromosome Location	chr4:87478995-87478996
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	chr4:87442312..87445005-chr4:87478694..87481365,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17011682	0.88[AFR][1000 genomes]
rs17011708	0.88[AFR][1000 genomes]
rs17011764	0.88[AFR][1000 genomes]
rs17011766	0.88[AFR][1000 genomes]
rs17011767	0.88[AFR][1000 genomes]
rs17011774	0.88[AFR][1000 genomes]
rs17011806	0.88[AFR][1000 genomes]
rs17011819	0.88[AFR][1000 genomes]
rs17011845	0.82[AFR][1000 genomes]
rs17011853	0.82[AFR][1000 genomes]
rs17011872	0.82[AFR][1000 genomes]
rs17011923	0.82[AFR][1000 genomes]
rs2001612	0.82[AFR][1000 genomes]
rs6844636	0.88[AFR][1000 genomes]
rs6844802	0.88[AFR][1000 genomes]
rs7661679	0.88[AFR][1000 genomes]
rs7667204	0.88[AFR][1000 genomes]
rs7675381	0.88[AFR][1000 genomes]
rs7678691	0.82[AFR][1000 genomes]
rs7691277	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
8	nsv879522	chr4:87473776-87644842	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	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	chr4:87466600-87479400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:87474400-87479200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:87474600-87479000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:87477000-87479000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:87477200-87479200	Enhancers	Hela-S3	cervix
6	chr4:87477600-87479000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:87477600-87479200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:87477800-87479200	Enhancers	Osteobl	bone
9	chr4:87477800-87480600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:87478000-87479000	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:87478000-87479000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:87478000-87479200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr4:87478000-87479600	Enhancers	NHEK	skin
14	chr4:87478000-87480200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:87478000-87480800	Enhancers	HMEC	breast
16	chr4:87478200-87481400	Weak transcription	Fetal Intestine Small	intestine
17	chr4:87478400-87479000	Enhancers	NHDF-Ad	bronchial
18	chr4:87478600-87479200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:87478600-87479600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:87478600-87479800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr4:87478600-87480000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:87478600-87482000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:87478800-87479000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:87478800-87479000	Enhancers	Fetal Kidney	kidney
25	chr4:87478800-87479000	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr4:87478800-87479600	Enhancers	GM12878-XiMat	blood
27	chr4:87478800-87480600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr4:87478800-87480800	Enhancers	Muscle Satellite Cultured Cells	--
29	chr4:87478800-87482000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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