Variant report

Variant	rs11070202
Chromosome Location	chr15:39727623-39727624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:39724781..39729630-chr15:39730304..39736268,5	MCF-7	breast:
2	chr15:39560119..39564394-chr15:39727167..39731091,3	MCF-7	breast:
3	chr15:39723566..39727788-chr15:39872507..39874775,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137801	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12906753	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12907239	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16969088	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4244569	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4306475	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4344715	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4405525	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4522393	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4923826	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4924354	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55638424	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57817952	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58084121	0.86[EUR][1000 genomes]
rs59238363	0.86[EUR][1000 genomes]
rs6492889	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs724098	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8026812	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8029673	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8032895	0.83[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11070202	RP11-624L4.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39719200-39728200	Enhancers	HUVEC	blood vessel
2	chr15:39722400-39727800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:39722800-39730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr15:39723800-39731200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr15:39724000-39728000	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr15:39724200-39727800	Enhancers	Fetal Muscle Leg	muscle
7	chr15:39724600-39729800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:39724800-39727800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr15:39725000-39728400	Enhancers	Fetal Stomach	stomach
10	chr15:39725000-39728800	Enhancers	HepG2	liver
11	chr15:39725200-39728800	Enhancers	Fetal Lung	lung
12	chr15:39725400-39727800	Weak transcription	Fetal Heart	heart
13	chr15:39725800-39728200	Enhancers	Stomach Smooth Muscle	stomach
14	chr15:39725800-39730600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr15:39725800-39730600	Weak transcription	Fetal Thymus	thymus
16	chr15:39725800-39731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr15:39725800-39731200	Weak transcription	Spleen	Spleen
18	chr15:39726000-39730400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr15:39726400-39727800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:39726400-39728200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr15:39726600-39728200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr15:39726600-39729000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr15:39726800-39728000	Enhancers	Stomach Mucosa	stomach
24	chr15:39726800-39728200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr15:39726800-39728400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr15:39727000-39728000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr15:39727000-39728200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr15:39727000-39728200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr15:39727200-39728000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:39727200-39728000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr15:39727200-39730000	Weak transcription	Left Ventricle	heart
32	chr15:39727200-39730800	Weak transcription	Small Intestine	intestine
33	chr15:39727200-39736600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr15:39727200-39746800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:39727400-39727800	Weak transcription	Adipose Nuclei	Adipose
36	chr15:39727400-39728000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr15:39727400-39728400	Weak transcription	Right Atrium	heart
38	chr15:39727400-39730000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr15:39727400-39730000	Weak transcription	Right Ventricle	heart
40	chr15:39727400-39730600	Weak transcription	Lung	lung
41	chr15:39727400-39730600	Weak transcription	Ovary	ovary
42	chr15:39727400-39731200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr15:39727600-39728000	Enhancers	Fetal Kidney	kidney

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