Variant report

Variant	rs4418255
Chromosome Location	chr7:47709440-47709441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:47682190..47683735-chr7:47709355..47711921,2	MCF-7	breast:
2	chr7:47672802..47676039-chr7:47707333..47710089,3	MCF-7	breast:
3	chr7:47620142..47622766-chr7:47707651..47710546,2	MCF-7	breast:
4	chr7:47662894..47665342-chr7:47707411..47709847,2	MCF-7	breast:
5	chr7:47691927..47694720-chr7:47708904..47710828,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136205	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10253479	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951917	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10951919	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10951920	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10951921	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11771997	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4398813	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4418256	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4428579	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4537224	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6463431	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73105223	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7786687	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7792269	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7807659	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7812217	0.88[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	esv3477663	chr7:47706827-47711425	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3477665	chr7:47706827-47711425	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1024392	chr7:47707023-47758976	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3413769	chr7:47707627-47710525	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	esv3326735	chr7:47708700-47709580	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47695000-47711000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:47704600-47710400	Weak transcription	Fetal Lung	lung
3	chr7:47706000-47721600	Enhancers	Placenta	Placenta
4	chr7:47707400-47713000	Weak transcription	Fetal Intestine Large	intestine
5	chr7:47707600-47714400	Enhancers	Primary B cells from peripheral blood	blood
6	chr7:47708400-47709600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:47708400-47710000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr7:47708400-47710600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:47708400-47711800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:47708600-47709600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:47708600-47709600	Enhancers	Adipose Nuclei	Adipose
12	chr7:47708600-47709600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:47708600-47709800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:47708600-47709800	Enhancers	Aorta	Aorta
15	chr7:47708600-47709800	Enhancers	K562	blood
16	chr7:47708600-47710000	Enhancers	A549	lung
17	chr7:47708600-47710000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr7:47708600-47710600	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr7:47708600-47710600	Enhancers	HSMM	muscle
20	chr7:47708600-47710800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:47708600-47711000	Enhancers	Primary hematopoietic stem cells	blood
22	chr7:47708600-47711000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr7:47708600-47711200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr7:47708600-47711600	Enhancers	Fetal Thymus	thymus
25	chr7:47708800-47709600	Enhancers	Colonic Mucosa	Colon
26	chr7:47708800-47709600	Enhancers	Esophagus	oesophagus
27	chr7:47708800-47709600	Enhancers	Stomach Mucosa	stomach
28	chr7:47708800-47709600	Flanking Active TSS	Hela-S3	cervix
29	chr7:47708800-47709600	Enhancers	HMEC	breast
30	chr7:47708800-47709800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:47708800-47709800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:47708800-47709800	Enhancers	Fetal Kidney	kidney
33	chr7:47708800-47709800	Enhancers	NHEK	skin
34	chr7:47708800-47710000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:47708800-47710000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:47708800-47710000	Enhancers	Fetal Muscle Leg	muscle
37	chr7:47708800-47710000	Flanking Active TSS	GM12878-XiMat	blood
38	chr7:47708800-47710000	Enhancers	NHDF-Ad	bronchial
39	chr7:47708800-47710200	Enhancers	NH-A	brain
40	chr7:47708800-47710800	Enhancers	HepG2	liver
41	chr7:47709000-47709600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:47709000-47709600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr7:47709000-47709600	Enhancers	Fetal Intestine Small	intestine
44	chr7:47709000-47709600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr7:47709000-47709600	Enhancers	Thymus	Thymus
46	chr7:47709000-47709800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr7:47709000-47709800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr7:47709000-47709800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr7:47709000-47710000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:47709000-47710000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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