Variant report

Variant	rs62448549
Chromosome Location	chr7:47821668-47821669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47810003..47811923-chr7:47819425..47821850,2	MCF-7	breast:
2	chr7:47817549..47819162-chr7:47820902..47823876,2	MCF-7	breast:
3	chr7:47620215..47623501-chr7:47821573..47827272,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136205	Chromatin interaction

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

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

rs_ID	r²[population]
rs12666913	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12671226	0.82[ASN][1000 genomes]
rs12673415	0.82[ASN][1000 genomes]
rs1453288	0.88[ASN][1000 genomes]
rs17545292	0.88[ASN][1000 genomes]
rs17659711	0.83[ASN][1000 genomes]
rs17710633	0.84[ASN][1000 genomes]
rs17710675	0.83[ASN][1000 genomes]
rs1869322	0.83[ASN][1000 genomes]
rs1869323	0.83[ASN][1000 genomes]
rs3734933	0.83[ASN][1000 genomes]
rs4724645	0.84[ASN][1000 genomes]
rs57931259	0.88[ASN][1000 genomes]
rs58963857	0.88[ASN][1000 genomes]
rs62448545	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448548	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62448550	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62448553	0.84[ASN][1000 genomes]
rs62448554	0.84[ASN][1000 genomes]
rs6949512	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47814400-47823200	Enhancers	HepG2	liver
2	chr7:47816200-47826000	Weak transcription	Right Atrium	heart
3	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
4	chr7:47817800-47824600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:47818400-47822400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:47818600-47821800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:47819000-47821800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:47819000-47822000	Weak transcription	NHEK	skin
9	chr7:47819000-47826600	Weak transcription	Small Intestine	intestine
10	chr7:47819200-47821800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:47819400-47822400	Weak transcription	Fetal Intestine Large	intestine
12	chr7:47819400-47823200	Weak transcription	Fetal Intestine Small	intestine
13	chr7:47820000-47826000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr7:47821400-47822000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:47821400-47822000	Enhancers	A549	lung
16	chr7:47821400-47823200	Enhancers	Colon Smooth Muscle	Colon
17	chr7:47821400-47823200	Enhancers	Hela-S3	cervix
18	chr7:47821400-47827000	Enhancers	HSMMtube	muscle
19	chr7:47821400-47827600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:47821400-47827600	Enhancers	HSMM	muscle
21	chr7:47821600-47821800	Enhancers	Fetal Muscle Leg	muscle
22	chr7:47821600-47821800	Enhancers	Ovary	ovary
23	chr7:47821600-47821800	Enhancers	Pancreas	Pancrea
24	chr7:47821600-47822000	Enhancers	Aorta	Aorta
25	chr7:47821600-47822600	Enhancers	Fetal Stomach	stomach
26	chr7:47821600-47822800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr7:47821600-47823000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:47821600-47823200	Enhancers	Stomach Smooth Muscle	stomach
29	chr7:47821600-47823200	Enhancers	NH-A	brain
30	chr7:47821600-47823200	Enhancers	NHLF	lung
31	chr7:47821600-47823400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:47821600-47823600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:47821600-47823600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr7:47821600-47823600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:47821600-47827200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:47821600-47827200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:47821600-47827200	Enhancers	Rectal Smooth Muscle	rectum
38	chr7:47821600-47827200	Enhancers	NHDF-Ad	bronchial
39	chr7:47821600-47827600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:47821600-47827600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr7:47821600-47827600	Enhancers	Osteobl	bone
42	chr7:47821600-47827800	Enhancers	HMEC	breast

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