Variant report

Variant	rs7182023
Chromosome Location	chr15:39726585-39726586
allele	G/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	chr15:39712002..39713506-chr15:39725005..39726661,2	MCF-7	breast:
3	chr15:39723566..39727788-chr15:39872507..39874775,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137801	Chromatin interaction
ENSG00000259345	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11631986	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12907034	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4462564	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4533261	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4622487	0.83[AFR][1000 genomes]
rs4924350	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8038785	0.81[AFR][1000 genomes]
rs8040081	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8040790	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9920130	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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
rs7182023	RP11-624L4.1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39713200-39727400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr15:39719200-39728200	Enhancers	HUVEC	blood vessel
3	chr15:39719400-39726800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:39719600-39727200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:39720200-39726800	Weak transcription	Adipose Nuclei	Adipose
6	chr15:39722400-39727800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:39722600-39726800	Weak transcription	Small Intestine	intestine
8	chr15:39722600-39727200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr15:39722800-39730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr15:39723000-39726800	Weak transcription	Stomach Mucosa	stomach
11	chr15:39723000-39727000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:39723800-39727400	Enhancers	Colon Smooth Muscle	Colon
13	chr15:39723800-39731200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:39724000-39727000	Weak transcription	NH-A	brain
15	chr15:39724000-39728000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr15:39724200-39727400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr15:39724200-39727400	Enhancers	Rectal Smooth Muscle	rectum
18	chr15:39724200-39727800	Enhancers	Fetal Muscle Leg	muscle
19	chr15:39724600-39726800	Weak transcription	Osteobl	bone
20	chr15:39724600-39729800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:39724800-39727400	Enhancers	Right Atrium	heart
22	chr15:39724800-39727800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr15:39725000-39726800	Enhancers	Thymus	Thymus
24	chr15:39725000-39727200	Enhancers	NHDF-Ad	bronchial
25	chr15:39725000-39728400	Enhancers	Fetal Stomach	stomach
26	chr15:39725000-39728800	Enhancers	HepG2	liver
27	chr15:39725200-39728800	Enhancers	Fetal Lung	lung
28	chr15:39725400-39727400	Enhancers	Ovary	ovary
29	chr15:39725400-39727800	Weak transcription	Fetal Heart	heart
30	chr15:39725800-39726800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr15:39725800-39726800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr15:39725800-39726800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr15:39725800-39726800	Weak transcription	Lung	lung
34	chr15:39725800-39726800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:39725800-39726800	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr15:39725800-39727000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:39725800-39727000	Weak transcription	Esophagus	oesophagus
38	chr15:39725800-39728200	Enhancers	Stomach Smooth Muscle	stomach
39	chr15:39725800-39730600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:39725800-39730600	Weak transcription	Fetal Thymus	thymus
41	chr15:39725800-39731200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr15:39725800-39731200	Weak transcription	Spleen	Spleen
43	chr15:39726000-39727000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr15:39726000-39730400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:39726200-39726600	Weak transcription	Left Ventricle	heart
46	chr15:39726200-39726600	Weak transcription	Right Ventricle	heart
47	chr15:39726400-39726600	Enhancers	Fetal Kidney	kidney
48	chr15:39726400-39726800	Enhancers	Duodenum Mucosa	Duodenum
49	chr15:39726400-39727800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:39726400-39728200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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