Variant report

Variant	rs13224987
Chromosome Location	chr7:27962090-27962091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27956076..27958841-chr7:27959567..27962104,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17621988	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs195	0.86[AFR][1000 genomes]
rs1989908	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1989909	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs202	0.88[AFR][1000 genomes]
rs203	0.89[AFR][1000 genomes]
rs206	0.90[AFR][1000 genomes]
rs209	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs212	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34634838	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758109	chr7:27793616-27972869	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2759520	chr7:27793616-27972869	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27941400-27990800	Weak transcription	Primary T cells from cord blood	blood
2	chr7:27941600-27962800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:27942400-28005600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:27950400-27963000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:27951400-27963000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:27954600-27962600	Weak transcription	Right Ventricle	heart
7	chr7:27954600-27963000	Weak transcription	Left Ventricle	heart
8	chr7:27955200-27962600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:27956600-27979800	Weak transcription	Aorta	Aorta
10	chr7:27957000-27962800	Weak transcription	Primary B cells from cord blood	blood
11	chr7:27957200-27979000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:27957400-27962600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:27957400-27963200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr7:27957600-27969200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:27957600-28000800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:27957800-27973400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:27958600-27962800	Weak transcription	Fetal Heart	heart
18	chr7:27959600-27962600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:27960200-27964400	Enhancers	Dnd41	blood
20	chr7:27960600-27962400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:27960800-27962400	Weak transcription	HSMMtube	muscle
22	chr7:27961000-27962400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:27961000-27962400	Weak transcription	Placenta	Placenta
24	chr7:27961000-27962400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr7:27961000-27962400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr7:27961000-27962600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:27961000-27962600	Weak transcription	Adipose Nuclei	Adipose
28	chr7:27961000-27962600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:27961000-27962600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:27961000-27962800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr7:27961000-27962800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:27961000-27963000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:27961000-27963000	Weak transcription	Fetal Brain Female	brain
34	chr7:27961000-27963000	Weak transcription	HSMM	muscle
35	chr7:27961000-27963200	Weak transcription	Psoas Muscle	Psoas
36	chr7:27961000-27968000	Weak transcription	Brain Substantia Nigra	brain
37	chr7:27961000-27976000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr7:27961000-27983400	Weak transcription	NH-A	brain
39	chr7:27961200-27962400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:27961200-27962400	Weak transcription	Fetal Muscle Leg	muscle
41	chr7:27961200-27962400	Weak transcription	GM12878-XiMat	blood
42	chr7:27961200-27962600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:27961200-27962600	Weak transcription	Osteobl	bone
44	chr7:27961200-27962800	Weak transcription	Fetal Stomach	stomach
45	chr7:27961200-27963000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:27961200-27963400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:27961200-27964200	Weak transcription	NHLF	lung
48	chr7:27961400-27962400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:27961400-27962400	Weak transcription	Colon Smooth Muscle	Colon
50	chr7:27961400-27962400	Weak transcription	A549	lung

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