Variant report

Variant	rs74008200
Chromosome Location	chr15:39727913-39727914
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	chr15:39724781..39729630-chr15:39730304..39736268,5	MCF-7	breast:
2	chr15:39560119..39564394-chr15:39727167..39731091,3	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11070204	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1158918	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11633970	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11857561	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12438465	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12593294	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12899217	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1812583	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1947782	0.85[ASN][1000 genomes]
rs1993892	0.85[ASN][1000 genomes]
rs1993893	0.82[ASN][1000 genomes]
rs2086166	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2127029	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2411293	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34329697	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4244571	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4486853	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4924361	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4924363	0.86[ASN][1000 genomes]
rs59431794	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60697424	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6492888	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7171244	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7178351	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7180041	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7350779	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74010438	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8030260	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8032900	0.89[ASN][1000 genomes]
rs8033214	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9888722	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9920539	0.90[EUR][1000 genomes];0.85[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	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats 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
3	nsv1042824	chr15:39676039-39757222	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv542362	chr15:39676039-39757222	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1052908	chr15:39692049-39750193	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1044082	chr15:39693241-39750193	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1036091	chr15:39699841-39750193	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39719200-39728200	Enhancers	HUVEC	blood vessel
2	chr15:39722800-39730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:39723800-39731200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:39724000-39728000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr15:39724600-39729800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:39725000-39728400	Enhancers	Fetal Stomach	stomach
7	chr15:39725000-39728800	Enhancers	HepG2	liver
8	chr15:39725200-39728800	Enhancers	Fetal Lung	lung
9	chr15:39725800-39728200	Enhancers	Stomach Smooth Muscle	stomach
10	chr15:39725800-39730600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr15:39725800-39730600	Weak transcription	Fetal Thymus	thymus
12	chr15:39725800-39731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr15:39725800-39731200	Weak transcription	Spleen	Spleen
14	chr15:39726000-39730400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:39726400-39728200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:39726600-39728200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr15:39726600-39729000	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:39726800-39728000	Enhancers	Stomach Mucosa	stomach
19	chr15:39726800-39728200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr15:39726800-39728400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr15:39727000-39728000	Enhancers	H9 Cell Line	embryonic stem cell
22	chr15:39727000-39728200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr15:39727000-39728200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr15:39727200-39728000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:39727200-39728000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr15:39727200-39730000	Weak transcription	Left Ventricle	heart
27	chr15:39727200-39730800	Weak transcription	Small Intestine	intestine
28	chr15:39727200-39736600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:39727200-39746800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:39727400-39728000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr15:39727400-39728400	Weak transcription	Right Atrium	heart
32	chr15:39727400-39730000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr15:39727400-39730000	Weak transcription	Right Ventricle	heart
34	chr15:39727400-39730600	Weak transcription	Lung	lung
35	chr15:39727400-39730600	Weak transcription	Ovary	ovary
36	chr15:39727400-39731200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr15:39727600-39728000	Enhancers	Fetal Kidney	kidney
38	chr15:39727800-39728000	Enhancers	Adipose Nuclei	Adipose
39	chr15:39727800-39728800	Enhancers	Fetal Heart	heart
40	chr15:39727800-39730400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr15:39727800-39740200	Weak transcription	Fetal Muscle Leg	muscle

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