Variant report

Variant	rs62448550
Chromosome Location	chr7:47826807-47826808
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47478891..47481808-chr7:47825195..47826977,2	MCF-7	breast:
2	chr7:47620215..47623501-chr7:47821573..47827272,7	MCF-7	breast:
3	chr7:47672004..47676377-chr7:47825197..47828520,6	MCF-7	breast:
4	chr7:47730789..47733579-chr7:47824840..47827791,2	MCF-7	breast:
5	chr7:47673413..47676550-chr7:47822059..47827530,9	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];0.92[AMR][1000 genomes];0.86[EUR][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	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17710675	0.83[ASN][1000 genomes]
rs1869322	0.83[ASN][1000 genomes]
rs1869323	0.83[ASN][1000 genomes]
rs3734933	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4724645	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57931259	0.88[ASN][1000 genomes]
rs58963857	0.88[ASN][1000 genomes]
rs62448545	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62448548	1.00[ASN][1000 genomes]
rs62448549	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62448553	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62448554	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6949512	1.00[AFR][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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47817200-47846600	Weak transcription	Left Ventricle	heart
2	chr7:47821400-47827000	Enhancers	HSMMtube	muscle
3	chr7:47821400-47827600	Enhancers	Muscle Satellite Cultured Cells	--
4	chr7:47821400-47827600	Enhancers	HSMM	muscle
5	chr7:47821600-47827200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:47821600-47827200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:47821600-47827200	Enhancers	Rectal Smooth Muscle	rectum
8	chr7:47821600-47827200	Enhancers	NHDF-Ad	bronchial
9	chr7:47821600-47827600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:47821600-47827600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:47821600-47827600	Enhancers	Osteobl	bone
12	chr7:47821600-47827800	Enhancers	HMEC	breast
13	chr7:47822200-47827400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:47822400-47827600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr7:47823000-47827600	Enhancers	Fetal Stomach	stomach
16	chr7:47823200-47827000	Enhancers	Fetal Muscle Leg	muscle
17	chr7:47823200-47827200	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:47823400-47827400	Enhancers	Stomach Smooth Muscle	stomach
19	chr7:47823400-47847200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:47823400-47849400	Weak transcription	Psoas Muscle	Psoas
21	chr7:47823400-47852200	Weak transcription	Right Ventricle	heart
22	chr7:47823600-47827000	Enhancers	Colon Smooth Muscle	Colon
23	chr7:47823600-47827200	Enhancers	NHLF	lung
24	chr7:47823800-47827600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:47824000-47827600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:47824200-47827000	Enhancers	Ovary	ovary
27	chr7:47824400-47827400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:47824400-47827600	Enhancers	Placenta	Placenta
29	chr7:47824600-47827000	Enhancers	Fetal Intestine Large	intestine
30	chr7:47824600-47827400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:47824600-47827600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr7:47824600-47827600	Enhancers	Fetal Intestine Small	intestine
33	chr7:47825600-47827000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr7:47825600-47827000	Enhancers	Aorta	Aorta
35	chr7:47825600-47827200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr7:47825600-47827400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:47825600-47827600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:47825800-47827000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:47825800-47827000	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr7:47825800-47827000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:47825800-47827000	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr7:47825800-47827000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr7:47825800-47827000	Flanking Active TSS	NHEK	skin
44	chr7:47825800-47827200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:47825800-47827400	Flanking Active TSS	HepG2	liver
46	chr7:47826000-47827000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:47826200-47827000	Enhancers	Fetal Lung	lung
48	chr7:47826200-47827200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:47826200-47827200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:47826200-47827600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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