Variant report

Variant	rs62374730
Chromosome Location	chr5:124746653-124746654
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	chr5:124743495..124745271-chr5:124746549..124748849,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17465113	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374671	0.81[EUR][1000 genomes]
rs62374673	0.81[EUR][1000 genomes]
rs62374685	0.81[EUR][1000 genomes]
rs62374686	0.81[EUR][1000 genomes]
rs62374687	0.81[EUR][1000 genomes]
rs62374698	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374716	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374718	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374720	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374721	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374723	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374724	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374725	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374727	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62374731	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030992	chr5:124708549-125391503	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv537892	chr5:124708549-125391503	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124740800-124746800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:124743800-124750000	Enhancers	Fetal Intestine Large	intestine
3	chr5:124743800-124750400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:124744000-124746800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:124744000-124746800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:124744000-124746800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:124744000-124747000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:124744000-124747000	Enhancers	Rectal Smooth Muscle	rectum
9	chr5:124744000-124747000	Enhancers	HMEC	breast
10	chr5:124744000-124747600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr5:124744000-124749000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:124744000-124750000	Enhancers	Stomach Mucosa	stomach
13	chr5:124744200-124747000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr5:124744200-124747000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:124744200-124747200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:124744200-124747400	Enhancers	Brain Angular Gyrus	brain
17	chr5:124744200-124747400	Enhancers	NHLF	lung
18	chr5:124744200-124747600	Enhancers	Dnd41	blood
19	chr5:124744200-124748600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:124744200-124749800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:124744200-124750000	Enhancers	Fetal Intestine Small	intestine
22	chr5:124744200-124750000	Enhancers	Fetal Stomach	stomach
23	chr5:124744200-124750200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:124744200-124751200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:124744400-124746800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:124744400-124747200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:124744400-124747400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:124744400-124750000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:124744600-124747000	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr5:124744600-124747000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr5:124744600-124747200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr5:124744600-124748200	Enhancers	Placenta Amnion	Placenta Amnion
33	chr5:124744600-124749000	Enhancers	Small Intestine	intestine
34	chr5:124744800-124746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr5:124744800-124747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:124744800-124747600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:124744800-124747600	Enhancers	Colonic Mucosa	Colon
38	chr5:124744800-124750400	Enhancers	Fetal Heart	heart
39	chr5:124745000-124746800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr5:124745200-124747200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr5:124745200-124747200	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr5:124745400-124747000	Enhancers	Duodenum Mucosa	Duodenum
43	chr5:124745400-124747000	Enhancers	Ovary	ovary
44	chr5:124745400-124748600	Enhancers	Fetal Muscle Leg	muscle
45	chr5:124745600-124746800	Enhancers	NH-A	brain
46	chr5:124745600-124747000	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr5:124745800-124746800	Weak transcription	Placenta	Placenta
48	chr5:124745800-124746800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:124745800-124746800	Active TSS	Stomach Smooth Muscle	stomach
50	chr5:124745800-124747000	Enhancers	Fetal Brain Female	brain

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